XSS27 - Paediatrics

SYMPTOM SUMMARIES

PAEDIATRICS

DARWIN’S NOTEBOOK

TABLE OF CONTENTS

FEVER 1

RASH 3

CARDIOVASCULAR SYMPTOMS 6

RESPIRATORY SYMPTOMS 10

GASTROINTESTINAL SYMPTOMS 13

HAEMATURIA & PROTEINURIA 20

NEUROLOGICAL SYMPTOMS 23

MUSCULOSKELETAL SYMPTOMS 28

HAEMATOLOGICAL SYMPTOMS 31

SHORT STATURE 37

DEVELOPMENTAL DELAY 39

NEONATAL PROBLEMS 42

PAEDIATRICS – FEVER

DARWIN’S NOTEBOOK 1

• Fever is defined as a central temperature of >38oC

• Most fevers are due to benign, self-limiting viral infections ® but serious infections have the potential to

deteriorate rapidly, so it is essential to identify and treat them as early as possible

History

• Duration of fever ® prolonged fever ≥5 days will require further investigation, and diseases such as

tuberculosis, Kawasaki’s disease, malaria, typhoid, autoimmune non-infectious disorders, and malignancy should be excluded

• Localising symptoms ® an infection in certain systems will advertise itself:

o Cough / coryza, SOB, chest / upper abdominal pain ® respiratory tract infection

o Vomiting & diarrhoea, abdominal pain ® gastrointestinal tract infection, although

vomiting alone is non-specific

o Painful limb, limp / non-weight bearing ® septic arthritis / osteomyelitis

o Vomiting, lower abdominal pain, dysuria, foul-smelling urine ® urinary tract infection

o Headache, photophobia, neck pain / stiffness ® meningism

o Ear pain / discharge ® otitis media

§ NB: Younger children (<2yrs) might not localise symptoms, and therefore fever might

be the only presentation of serious infection

• Recent foreign travel ® malaria or typhoid can be overlooked if recent travel abroad is not disclosed

Examination

• Is the child systemically unwell? ® an active, playing, and communicative child is unlikely to have

sepsis, but any febrile child should be examined to look for a source

• Look for localising signs of infection ® tonsillitis, otitis media, pneumonia, meningitis, and septic arthritis

can all be revealed on examination

• Assess for signs of serious sepsis ® these include:

o Poor peripheral perfusion o Persistent tachycardia o Lethargy or irritability

• A set of observations are an important part of the examination ® important clinical signs include:

o Tachycardia ® >160bpm in <1yr, >150bpm in 1-2yr, >140bpm in 2-5yr

o Tachypnoea ® >60 breaths/min in neonates, >50 in infants, >40 in <5yr, >30 in older children

o Temperature ® ≥38oC in 0-3mo, ≥39oC in 3-6mo

• RED FLAGS for serious bacterial sepsis: o Children <3 months

o Bulging fontanelle

o White cell count >20 or <4 x 109/L o CRP >100 mg/L

o Shock

o Decreased consciousness or lethargy

o Irritability

o Persistent tachycardia ® in the

absence of fever

o Cold extremities o Poor capillary refill time

o Apnoea

o Non-blanching rash ® particularly

spreading petechiae or purpura

§ NB: Remember ILLNESS ® Irritability, Lethargy, Low capillary refill, Neutropaenia /

neutrophilia, Elevated or low temperature suggest Serious Sepsis

PAEDIATRICS – FEVER


Investigations

• In a well child in whom a confident clinical diagnosis has been possible, no investigation is required

• In children <3 months, or in older children with a fever who are clinically unwell without clear localising

signs ® a septic screen should be performed:

o FBC

o CRP

o Blood culture / PCR o Urine dipstick & culture

o Chest X-ray ® if respiratory signs

o Stool culture ® if diarrhoea

• A throat swab may be helpful

• Lumbar puncture ® should be performed if there is a fever in a child under 1 month, a child aged 1-3

months who looks unwell or has a WCC <5 or >15 x 109/L

Management • If a benign viral illness is suspected ® only symptomatic therapy is needed

• In the very young, or those who are very unwell ® broad-spectrum IV antibiotics are started before the

results of investigations are available because quickly ruling out serious infection is often impossible

• Treating the fever with antipyretics can be useful

Pyrexia of unknown origin

• The designation PUO should be reserved for a child with a documented protracted fever (>7 days) and no diagnosis despite initial investigation

• Most are infectious, and 40-60% will resolve without diagnosis

• Particular patterns of fever and response to treatment can be helpful in making important diagnoses ®

e.g. Kawasaki disease, juvenile idiopathic arthritis

• Causes of PUO include:

Infection Pyelonephritis Osteomyelitis Abscess Endocarditis Tuberculosis Typhoid Cytomegalovirus HIV Hepatitis Malaria

Inflammation Kawasaki disease Rheumatoid arthritis IBD

Malignancy Leukaemia Lymphoma

Factitious By parent or child / young person

PAEDIATRICS – RASH


• Children often present with a rash that might, or might not, be associated with systemic signs

• The majority are harmless, and they can occur with any underlying viral illness

• An exact diagnosis is often not possible ® but a few rashes are associated with serious systemic

disease

• Careful clinical history & examination are essential ® investigation is needed occasionally

Causes

• Infection ® viral, bacterial, toxin-associated

• Infestation ® e.g. scabies

• Dermatitis ® eczema, psoriasis

• Allergy • Vasculitis & bleeding disorders ® rare

History

• Duration, site of onset, evolution & spread

• Does it come and go? ® e.g. urticaria

• Does the rash itch? ® e.g. eczema, scabies

• Has there been any recent drug ingestion or exposure to potentially provocative agents ® e.g. sunlight,

food, allergens, detergents

• Are there any other associated symptoms ® e.g. sore throat, URTI

• Are there any other family members or contacts affected ® e.g. viral exanthems, infestations

• Is there any family history? ® e.g. atopy, psoriasis

Examination

• Assess for systemic features including: o Fever

o Lymphadenopathy o Splenomegaly

o Arthropathy

• Examine all of the skin, including the mucous

membranes, nails, and hair ® describe the

rash systematically

SITE & DISTRIBUTION • Generalised or localised

• Number of lesions

• Patterns of lesions ® discrete, grouped,

confluent

MORPHOLOGY • Describe the size, shape, and colour of

lesions

• Describe the surrounding skin

• Palpate the rash for scale, thickness, texture & temperature ® dry skin suggests eczema



Type of rash Description Examples Maculopapular Macules - flat, non-palpable, pigmented lesions

Papules – palpable, raised lesions Viral exanthems – e.g. measles, rubella, roseola infantum Scarlet fever Kawasaki disease

Vesicular Fluid-filled, palpable, raised lesions Chickenpox Eczema herpeticum

Haemorrhagic Caused by extravasation of blood ® therefore no blanching on pressure May be petechiae, purpura, or ecchymoses

Meningococcal sepsis Acute leukaemia ITP HSP ® usually on legs & buttocks Bleeding disorders ® haemophilia, von Willebrand disease

Urticarial Transient, itchy rash characterised by raised weals Appears rapidly and fades

Food allergy Drug allergy Contact allergy Hereditary urticaria ® e.g. C1 esterase deficiency

Investigations • Investigations are rarely required ® but might include skin scrapings for fungi or scabies

• If the skin looks infected ® a swab of any discharge can be helpful

• If there are signs of systemic illness ® other investigations including blood tests or cultures might be

needed, including a full septic screen

• NB: Non-blanching or rapidly spreading rash should be treated as meningococcal sepsis until proven

otherwise ® principles of management are:

o Oxygen

o IV access & immediate fluid resuscitation

o 3rd generation cephalosporin ® cefotaxime 50mg/kg or ceftriaxone 80mg/kg

o Early senior intensive care input

o Investigations:

§ FBC § Blood culture

§ Coagulation screen

§ Meningococcal PCR

§ CRP § U&Es

§ LFTs

§ Throat swab

Diagnostic features of common rashes MACULOPAPULAR

• Measles ® prodrome of fever, coryza & cough ® just before the rash appears, Koplik’s spots appear in

the mouth ® the rash tends to coalesce

• Rubella ® discrete, pink macular rash starting on the scalp & face ® occipital & cervical

lymphadenopathy may precede the rash

• Roseola infantum ® occurs in infants <3yr ® after 3 days of sustained fever, a pink morbilliform

eruption appears as the temperature subsides ® it is caused by HHV-6/7

• Enteroviral infection ® causes a generalised, pleomorphic rash, and produces a mild fever

• Glandular fever ® symptoms include malaise, fever & exudative tonsillitis ® lymphadenopathy &

splenomegaly are commonly found



• Kawasaki disease ® causes a protracted fever, generalised rash, red lips, lymphadenopathy, and

conjunctival inflammation

• Scarlet fever ® causes fever & sore throat ® the rash starts on the face and can include a ‘strawberry’

tongue

VESICULAR RASH • Chickenpox ® successive crops of papulovesicles on an erythematous base ® the lesions become

encrusted ® the mucous membranes are involved

• Eczema herpeticum ® exacerbation of eczema with vesicular spots

HAEMORRHAGIC RASH • Meningococcal septicaemia ® petechial or purpuric rash (might be preceded by maculopapular rash)

• Acute leukaemia ® look for pallor & hepatosplenomegaly

• Idiopathic thrombocytopaenic purpura ® the child looks well, but might have petechial rash with or

without nose bleeds

• Henoch-Schönlein purpura ® distribution is usually on the legs & buttocks ® arthralgia & abdominal

pain might be present

• Bleeding disorders ® haemophilia, von Willebrand disease & Ehler’s-Danlos usually present with

easy bruising and prolonged bleeding following trivial trauma

URTICARIAL RASH • Food allergy ® e.g. shellfish, eggs, cows’ milk

• Drug allergy ® e.g. penicillin

• Infections ® e.g. viral ® this is the most common and is often self-limiting

• Contact allergy ® e.g. plants, grasses, animal hair

OTHERS • Erythema multiforme:

o A distinctive, symmetrical rash characterised by annular target lesions, and various other

lesions including macules, papules, and bullae o The severe form with mucous membrane involvement is Steven’s-Johnson syndrome

o Causes include infections (most commonly HSV, mycoplasma or EBV) and drugs

o Mostly it is idiopathic & self-limiting

• Erythema nodosum: o Red, tender, nodular lesions o Usually occur on the shins

o Important causes include streptococcal infections and TB

PAEDIATRICS – CARDIOVASCULAR SYMPTOMS


• Congenital heart malformations account for most of the cardiovascular disease seen in paediatrics

• Rare causes include: o Rheumatic fever o Viral myocarditis / pericarditis o Arrhythmias

• Kawasaki disease is now the leading cause of acquired heart disease in children in the developed

world

• Heart disease presents in a limited number of ways:

o An abnormality detected on prenatal ultrasound o A murmur noted on examination in an asymptomatic infant / child

o Arrhythmia and/or syncope

o Sudden collapse o Cardiac failure ® with or without low cardiac output (shock)

History

• Cardiac symptoms vary with age

• Young infants may present with: o Poor feeding o Cough o Difficulty breathing o Sweating

o Faltering growth / inappropriate weight gain

o Recurrent chest infections

• Older children may present with: o Syncope o Palpitations o Chest pain ® although this

rarely signifies cardiac disease

o Shortness of breath o Exercise intolerance

• Important associations with congenital heart disease include:

Genetic disorders Down syndrome Atrioventricular septal defect Turner syndrome Coarctation of the aorta

Bicuspid aortic valve DiGeorge syndrome Tetralogy of Fallot

Truncus arteriosus Interrupted aortic arch

Williams syndrome Supravalvular aortic stenosis Noonan syndrome Pulmonary stenosis Teratogens Alcohol Atrial septal defect

Ventricular septal defect Lithium Ebstein anomaly Infections Congenital rubella Patent ductus arteriosus

Pulmonary stenosis Maternal conditions Diabetes Mellitus Transposition of the great arteries

Truncus arteriosus



Examination

• The major physical signs are: o Cyanosis

o Murmurs o Signs of cardiac failure

o Signs of cardiogenic shock

o Finger clubbing ® rare

CYANOSIS • Several varieties of CHD may present with central cyanosis at, or soon after, birth ® it is visible if

deoxygenated haemoglobin exceeds 5 g/dL

• Central cyanosis describes blue lips & tongue ® it is ALWAYS pathological

• Peripheral cyanosis describes blueness of the hands & feet due to a sluggish peripheral circulation ®

this can be a normal finding in newborn babies (acrocyanosis) within the first 24hrs of birth, or in babies who are cold, crying, or unwell from some non-cardiac cause

• Central cyanosis due to CHD is distinguished from that due to respiratory disease by the failure of right radial artery pO2 to rise above 15kPa after breathing 100% O2 for 10min ® this is known as the

nitrogen washout test • Differential cyanosis in the limbs indicates a patent ductus arteriosus with right-to-left shunting ®

measure the preductal O2 saturation using the right hand, and compare with the postductal O2 using the

left hand or either foot

• Causes: o In most patients, there is an abnormality that allows a right-to-left shunt

o These can be classified as:

§ Lesions with abnormal mixing ® e.g. transposition of the great arteries

§ Lesions with inadequate pulmonary blood flow (duct-dependent lesions) ® e.g.

tetralogy of Fallot

• Not all CHDs produce cyanosis ® these are:

Acyanotic heart defects Ventricular septal defect Patent ductus arteriosus Pulmonary stenosis Atrial septal defect Coarctation of aorta Aortic stenosis

32% 12% 8% 6% 6% 5%

Cyanotic heart defect Tetralogy of Fallot Transposition of great arteries

6% 5%

MURMURS • Cardiac murmurs are common in children of all ages ® the majority of these are innocent murmurs

• Evaluation of a murmur:

o Timing ® diastolic murmurs are rare in children and are ALWAYS pathological

o Character ® pansystolic / ejection systolic / continuous

o Loudness ® graded out of 6, where grade 4 and above can be palpated as a thrill

o Radiation ® radiation from the site of maximal loudness is more likely to be significant



• The hallmarks of an innocent murmur are: o An asymptomatic child

o A normal cardiovascular exam ® including normal heart sounds

o Present at sternal edge o Systolic or continuous o No radiation o Variation with posture

• Innocent murmurs are generated by turbulent from in a structurally normal CVS

• There are two main varieties of innocent murmur ® ejection murmurs and venous hums

• The ejection murmurs are: o Generated in the outflow tract of either side of the heart

o Soft, blowing, systolic o Heard in the 2nd or 4th left intercostal space

• The venous hums are: o Generated in the head and neck veins

o Continuous low-pitched rumbles o Heard beneath the clavicle

o Disappear on lying flat

• An innocent murmur is more likely to be noted during tachycardia (e.g. with fever, anaemia, or exercise)

® it is therefore important to reassess for persistence at a later stage

• A murmur with any of the following features is significant:

o Symptoms ® syncope, episodic cyanosis

o CVS signs ® abnormal pulses, heart sounds, BP, or cardiac impulse

o Murmur ® diastolic, pansystolic, radiating to the back, or associated with a thrill

• Significant murmurs include those caused by pulmonary stenosis and PDA

• Refer for echocardiography if a significant murmur is suspected

CARDIAC FAILURE • This is less commonly seen in paediatrics and is usually encountered during infancy

• The clinical features are different from those in adults ® they develop respiratory distress and become

exhausted during feeds, and oedema is a rare finding and does not appear in the ankles as they are

non-ambulatory

• Clinical features:

o Symptoms ® poor feeding and breathlessness, faltering growth, excessive sweating &

recurrent chest infections

o Signs ® tachycardia, cool peripheries, tachypnoea & hepatomegaly ® CVS signs can

include a third heart sound, murmur & abnormal pulses

• Differential ® sepsis

• Causes: o This may be due to pressure overload (obstructive lesions) or volume overload (left-to-right

shunts):

§ Obstructive lesions typically present in neonates ® e.g. severe coarctation of the

aorta or hypoplastic left heart syndrome



§ Volume overload presents later in infancy ® the left-to-right shunt (e.g. VSD, PDA)

increases as the pulmonary vascular resistance falls

o Cardiac failure can be confused with the more common respiratory causes of tachypnoea o Less common causes of cardiac failure include supraventricular tachycardia & viral myocarditis

Investigations

• Initial evaluation should include:

o CXR and ECG ® although these do not usually provide a lesion diagnosis

o Definitive diagnosis is usually achieved by echocardiography

• Common investigations & results include:

Investigation Findings Chest X-ray Cardiac shadow may be enlarged or abnormal in shape:

• ‘Boot shape” ® tetralogy of Fallot • ‘Egg on side’ ® transposition of the great arteries

Lung fields – pulmonary vascular markings may be: • Increased (plethoric) ® signifies right-to-left shunt

(e.g. VSD) • Decreased (oligaemic) ® signifies reduced

pulmonary blood flow (e.g. PS) Electrocardiogram Rate & rhythm of heart

Mean QRS axis Hypertrophy of either ventricle

Echocardiogram Precise anatomical abnormality Cardiac catheterisation Physiological / haemodynamic status (rather than anatomy)

PAEDIATRICS – RESPIRATORY SYMPTOMS


Respiratory distress

• This term is loosely applied to indicate and increased work of breathing

• This may be in the form of: o Tachypnoea o Use of accessory muscles of breathing ® intercostal & subcostal recessions

o Flaring of alae nasi

o Cyanosis o Grunting

• Tachypnoea is usually a rate (in breaths/min) of: o >60 in neonates

o >50 in infants o >40 in under 5s

o >30 in older children

• Respiratory distress may be due to a cardiac cause ® history of an underlying heart problem, failure to

thrive, presence of murmurs, abnormal position of the cardiac apex, hepatomegaly, and cyanosis not improving despite 100% O2 should alert to the possibility of a heart defect

Cough

• In most cases, cough is due to an acute upper respiratory viral infection ® but there are important

causes of chronic cough

• The cough itself is rarely diagnostic ® EXCEPT in two instances:

o A ‘barking’ cough ® croup (acute laryngotracheobronchitis)

o Paroxysmal prolonged bouts of coughing, sometimes ending in a sharp intake of breath ®

pertussis (whooping cough) and certain viral infections

HISTORY OF COUGH • Duration of cough:

o This is usually brief ® e.g. <1 week

o Chronic cough (>3 weeks duration) ® indicates chronic infection, suppurative lung disease

post-viral cough, receptor sensitivity, asthma, whooping cough, inhaled foreign body, or TB

o Abrupt onset of symptoms, sometimes with a history of choking ® suggests inhaled foreign

body

• Type of cough: o Dry, moist, or productive

o The majority are dry ® e.g. post-viral cough, asthma

o A moist of productive cough ® raises the possibility of LRTI or suppurative lung disease

(e.g. CF)

• Association with wheeze ® cough without wheeze in children is rarely due to asthma

• Trigger factors ® passive smoking, exposure to day care, nocturnal cough, cough on exposure to

animals, unwell contacts

• NB: Many children with neurological disorders (e.g. severe cerebral palsy) cannot cough well, and this is one of their reasons for their susceptibility to respiratory infections

• Common causes of cough include:



Type of cough Cause Clues to diagnosis Acute Viral respiratory infection Coryzal symptoms

Bronchiolitis Wheeze in <1yr Pneumonia Fever

Dyspnoea Foreign body Sudden onset

Chronic Asthma Associated wheeze Tuberculosis TB contact Pertussis Lymphocytosis

Apnoea Suppurative lung disease (e.g. CF) Productive cough

Apnoea

• Apnoea is the cessation of breathing for at least 10 seconds, or associated with a fall in heart rate

• Its presence can signify significant respiratory disease, neurological disease, or acute life-threatening events ® especially in infants

• It is common in preterm infants due to immaturity of the respiratory centres

Stridor & wheeze

• Stridor is a noise associated with breathing due to narrowing of the upper airway

• Wheeze is a noise associated when breathing due to narrowing of the lower airway

• Either noise can occur at any phase of the respiratory cycle

• The differences are:

o Stridor is usually worse on inspiration ® when the upper airways naturally collapse

o Wheeze is usually worse on expiration ® when the lower airways naturally collapse

• It is very important to make a clear distinction between these signs ® stridor implies upper airway

obstruction, which could be life-threatening

Stridor • There are two types of stridor ® acute and persistent

• Causes of acute stridor are:

o Acute laryngotracheobronchitis (croup) o Acute epiglottitis o Bacterial tracheitis o Inhaled foreign body o Angioneurotic oedema (rare), anaphylaxis

• Causes of persistent stridor in an infant are: o Laryngomalacia o Anatomical obstructions ® e.g. vascular ring (rare)

• The different features of epiglottitis & croup reflect the differences in pathology:

o Epiglottitis ® there is a rapid onset of supraglottic swelling (painful & difficulty swallowing) and

bacteraemia

o Croup ® involvement of the larynx generates the characteristic hoarse voice & barking cough

• The important clinical features of epiglottitis, bacterial tracheitis, and croup are:



Croup Bacterial tracheitis Epiglottitis Systemically well Toxic Toxic Barking cough Barking cough Mild / absent cough Hoarse voice Very hoarse voice Muffled voice Can swallow Can swallow Intensely sore throat –

cannot swallow ® drooling & cannot drink

Wheeze • The usual causes of wheeze are viral LRTIs & asthma

• In children >5yr ® asthma is the most common cause of wheeze

• Less common causes of recurrent or acute wheezing in childhood include:

o Cystic fibrosis ® associated with failure to thrive & frequent chest infections

o Laryngeal pathology ® abnormal voice or cry

o GORD ® excessive vomiting

o Inhaled foreign body ® sudden onset

PAEDIATRICS – GASTROINTESTINAL SYMPTOMS


Acute abdominal pain

• The most important issue is to identify conditions needing urgent surgical or medical intervention

HISTORY • In babies ® abdominal pain is inferred from episodic screaming & drawing up of the legs

• In order children ® important features are:

o Duration ® pain lasting more than 4 hours is likely to be significant

o Location ® pain further away from the umbilicus is more likely to be significant

§ NB: Early appendicitis is an exception to this

o Nature ® constant or intermittent / colicky

o Associated symptoms:

§ Vomiting ® bilious suggests obstruction

§ Stools ® pain & bloody stools suggest intussusception in an infant, IBD in older

children

§ Dysuria ® UTI

§ Cough ® pneumonia

§ Anorexia ® a normal appetite is reassuring

EXAMINATION • Fever ® may be present in appendicitis, mesenteric adenitis, UTI & pneumonia

• Jaundice ® infectious hepatitis or biliary colic

• Rash ® Henoch-Schönlein purpura

• Respiratory tract ® pneumonia

• Hernial orifices ® strangulated hernia

• Genitalia ® testicular torsion

INVESTIGATIONS • Urinalysis ® dipstick for glucose & ketones, urine MC&S

• FBC ® neutrophilia may be present in pneumonia or UTI, or mildly raised in appendicitis

• Sickling test ® in children of African or Afro-Caribbean origin

• U&Es and glucose ® abnormalities must be identified, and DKA excluded

• Imaging ® a plain abdominal film is rarely helpful unless obstruction is suspected ® abdominal USS /

CT may be used to aid the diagnosis of appendicitis

Surgical causes of acute abdominal pain Medical causes of acute abdominal pain Acute appendicitis Abdominal causes Systemic causes Malrotation & volvulus Colic (diagnosis of exclusion) DKA

Intussusception Constipation Sickle cell disease

Testicular torsion Mesenteric adenitis HSP

Strangulated inguinal hernia Gastroenteritis Lower lobe pneumonia

Acute pyelonephritis / UTI

Pancreatitis



Recurrent abdominal pain

• In most children ® recurrent abdominal pain does not have an organic cause, and a diagnosis of

‘functional abdominal pain’ can be made without investigations

• If a diagnosis of functional abdominal pain is made ® it is important to emphasize that the pain is often

real, but without an identifiable physical cause

• Features of ‘functional’ recurrent abdominal pain include: o Pain usually periumbilical

o No associated appetite loss or bowel disturbance

o Family history of migraine, IBS, or recurrent abdominal pain o Healthy, thriving child with normal physical examination

• There is a long list of rare causes of recurrent abdominal pain, including:

Rare ‘organic’ causes of recurrent abdominal pain Recurrent UTI

Urinary calculus

H. pylori gastritis

Inflammatory bowel disease

Malrotation with intermittent volvulus

Recurrent pancreatitis

• Further investigations to exclude a possible organic cause may include: o Urine MC&S

o Plain abdominal film o Abdominal ultrasound

o FBC & inflammatory markers

o H. pylori stool antigen

Vomiting

• Vomiting is a non-specific symptom associated with a variety of conditions ® but can also be a normal

finding in babies

• Vomiting may also indicate disease outside the gastrointestinal tract

HISTORY • Does the vomit contain blood or bile? ® bilious vomiting suggests obstruction until proven

otherwise

• Is it projectile? ® may indicate pyloric stenosis

• Duration ® is vomiting acute or a persistent problem?

• Associated symptoms ® is it accompanied by fever, abdominal pain, constipation, or diarrhoea?

EXAMINATION • Examine for the following:

o Signs of dehydration

o Fever



o Abdominal distension (visible peristalsis), tenderness or masses

o Hernial orifices & genitalia

VOMITING IN NEONATES • Vomiting can be a sign of systemic infection (e.g. meningitis, UTI) or an inborn error of metabolism

• Surgical causes include bowel obstruction ® this is often associated with abdominal distension and

no bowel motions

• Causes of small bowel obstruction include:

o Duodenal atresia ® associated with Down syndrome

o Malrotation with volvulus o Strangulated inguinal hernia o Meconium ileus due to CF

• Causes of large bowel obstruction include:

o Hirschsprung’s disease ® absence of the myenteric plexus in the rectum & colon

o Imperforate anus or rectal atresia

• Necrotising enterocolitis tends to occur in pre-term neonates and can affect small or large bowel

VOMITING IN INFANTS • The commonest cause of persistent vomiting in infants is GORD due to functional immaturity of the

lower oesophageal sphincter that resolves spontaneously ® thickened feeds may help

• Severe reflux may be complicated by failure to thrive, oesophagitis & recurrent aspiration pneumonia

• Acute causes of vomiting include: o Gastroenteritis o Respiratory tract infections, tonsillitis & otitis media o UTI o Meningitis

• Important surgical causes include:

o Pyloric stenosis ® causes non-bilious projectile vomiting, more common in boys between a

few weeks and 3 months

o Intussusception ® the peak age is around 6-9mo ® associated with episodic severe

abdominal pain, irritability, and eventually pallor, shock, and passage of bloodstained

‘redcurrant jelly’ stools

VOMITING IN OLDER CHILDREN • Acute vomiting can occur in infections as described, or might be one of the symptoms of acute

appendicitis or abdominal migraine

• Rare but important causes include:

o Raised ICP o Malrotation of the intestine

o Inborn errors of metabolism

• A more chronic picture is seen in eating disorders & cyclical vomiting



Haematemesis

• The differential diagnosis for haematemesis varies with age

• In the first few days of life ® may be caused by swallowed maternal blood

• Later on ® can be due to oesophagitis & gastritis

• Haematemesis can also occur due to a tear in the oesophageal mucosa due to forceful vomiting (Mallory-Weiss syndrome) or may be following a nosebleed due to swallowed blood

Diarrhoea ACUTE DIARRHOEA

• The most common cause is infective viral gastroenteritis ® it commonly occurs in combination with

vomiting o NB: Always take a travel history

• Some infections cause pathology in the lower GI tract ® in this case, there might be no vomiting, and

diarrhoea will dominate the clinical presentation, often with blood & mucus • Bloody diarrhoea should raise suspicion of specific pathogens, and of non-infective conditions:

o Infective causes ® Campylobacter, Shigella, amoeba

o Intussusception ® especially 6-9mo

o Haemolytic-uraemic syndrome ® check renal function & blood pressure o Inflammatory bowel disease

• On examination ® high fever suggests a bacterial gastroenteritis

• Assessment of dehydration is vital

CHRONIC DIARRHOEA • The most common cause of persistent loose stools in a well preschool child is so-called ‘toddler

diarrhoea’ ® a maturational delay in intestinal motility causes intermittent explosive loose stools, with

undigested vegetables often present • An acute diarrhoeal episode might become protracted (duration >2 weeks) because of transient

secondary lactose intolerance ® watery diarrhoea returns when a normal diet is reintroduced, and

stools give a positive Clinitest result for reducing substances • Chronic diarrhoea in a child who has faltering growth raises the possibility of several important

diagnoses, including: o Infective causes ® giardiasis, amoebiasis

o Food allergy / intolerance ® cow’s milk protein allergy, lactose intolerance

o Malabsorption ® coeliac disease, cystic fibrosis

o Inflammatory bowel disease ® Crohn’s disease, ulcerative colitis

EXAMINATION • This includes assessment of dehydration (including weight), and then identifying the cause of diarrhoea • Look for any evidence of malabsorption ® anaemia, poor weight gain, abdominal distension &

buttock wasting • A thriving child with no associated symptomatology is unlikely to have significant disease • Faecal soiling due to constipation & overflow can be mistaken for diarrhoea



INVESTIGATION • These are directed towards the suspected cause:

o Stool microscopy & culture ® if bacterial cause is suspected

o Tests for reducing substances & faecal fats ® if considering malabsorption

o Coeliac antibodies (TTG) o Endoscopy & colonoscopy ® if IBD is suspected

Constipation

• The term ‘constipation’ refers to delay or difficulty in passing stools for more than 2 weeks

• It might be accompanied by soiling caused by involuntary overflow incontinence

• In infants & children, constipation is often acute & transient ® constipation might follow an acute febrile

illness, and can be prolonged if the hard stools cause a small, superficial anal tear • Organic causes of constipation are rare ® these are more likely in infants, with onset at birth or when

accompanied by faltering growth, and include:

o Local causes ® Hirschsprung’s disease, neuromuscular disorders (e.g. cerebral palsy)

o Systemic causes ® hypothyroidism, coeliac disease, food allergies (non-IgE mediated)

• In childhood, a common cause of chronic constipation is so called simple constipation associated with acquired megacolon

• Short-segment Hirschsprung’s disease might present late, and should be considered in severe or

intractable constipation ® RED FLAG signs & symptoms include:

o Symptoms started within first few weeks of life o Passage of meconium >24 hours

o Faltering growth

o Delayed walking or lower limb abnormal neurology o Abdominal distension and/or vomiting

o Child protection concerns

HISTORY • Enquire about:

o Frequency & consistency of stools o Presence of pain or blood on defecation

o Presence or absence of soiling

o Any history of delay in passage of meconium

EXAMINATION • Check for the following:

o Systemic signs of faltering growth

o Abdominal distension, palpable descending colon

o Presence of anal fissure

• Digital rectal examination is not a routine part of the examination ® it should only be performed if there

is suspicion of an underlying disorder

Faltering growth

• Faltering growth is used to describe a child who is not meeting their expected growth potential ® it

usually related to weight gain, but may also include linear growth



• The rate of weight gain over time is more important, since a single observation is difficult to interpret

• It is important to remember that birth weight is determined by the intrauterine environment ® the weight

of a large infant may drop from its birth centile to a lower centile (catch down) in the first year

• Causes of faltering growth include:

• Globally, the most common cause is inadequate food intake ® in the UK, many cases have a non-

organic cause, and are associated with psychosocial and environmental deprivation

• Organic causes include inadequate intake, malabsorption, and increased energy expenditure

• Following a thorough assessment, investigations should be targeted towards the most likely cause

• A constitutionally small normal child should be recognised ® e.g. small parents, low birth weight,

proportionally small, normal height & weight velocities, healthy child

• A brief hospital admission to document weight gain on a measured dietary intake might be helpful

Liver symptoms • Liver disease is uncommon in childhood ® it usually manifests as jaundice or hepatomegaly

JAUNDICE • Jaundice is caused by an increase in circulating bilirubin ® the bilirubin can be conjugated or

unconjugated, depending on the aetiology

• Mild jaundice is best detected in the sclerae than then skin

• Jaundice is most common in the newborn period ® at this time, the usual cause is physiological liver disease, but occasionally may be severe liver disease requiring early recognition & intervention

• Infectious hepatitis is the most common cause of acute jaundice in the older child ® viral hepatitis

accounts for most, but other pathogens can involve the liver, including:

o Hepatitis viruses ® hepatitis A is the most common cause of jaundice after the neonatal

period

o Epstein-Barr virus (EBV) o Malaria or bilharzia

• Liver injury can be caused by a variety of drugs (e.g. sodium valproate, halothane), and in overdose, paracetamol & iron are toxic to the liver

• Jaundice with pallor suggest a haemolytic episode ® e.g. glucose-6-phosphate dehydrogenase deficiency, sickle cell disease, or haemolytic-uraemic syndrome



HEPATOMEGALY • Isolated hepatomegaly is uncommon ® in association with jaundice, the causes include biliary atresia

and infective hepatitis

• In babies, hepatomegaly is an important feature of cardiac failure

• Hepatosplenomegaly can occur in malaria, advanced liver disease, and a number of important

haematological disorders (e.g. leukaemia, sickle cell disease, thalassaemia) and rare storage disorders (e.g. mucopolysaccharidosis)

PAEDIATRICS – HAEMATURIA & PROTEINURIA


Introduction

• In the infant or younger child, UTI is the most common disorder encountered ® it often presents without

specific symptoms or signs

• Urine abnormalities might also indicate a renal pathology

• Important symptoms are:

o Polyuria or enuresis ® suggesting UTI or diabetes mellitus

o Dysuria ® suggesting UTI

o Oliguria ® suggesting dehydration or acute renal failure

o Discoloured urine

o Fever (with or without rigors) ® rule out UTI or pyelonephritis

• Important signs are:

o Hypertension ® suggesting glomerulonephritis

o Oedema ® suggesting nephrotic syndrome

o Palpable bladder or kidneys ® suggesting anatomical abnormalities

Haematuria

• Urine dipsticks are very sensitive ® haematuria should be confirmed by urine microscopy, and is

defined as >10 RBCs per high power field

• The causes of haematuria include:

HISTORY • Find out the following:

o Duration

o Dysuria & frequency ® suggest UTI

o Associated loin pain ® suggests renal stones or pyelonephritis (if associated with fever)

o Recent foreign travel ® suggests schistosomiasis or malaria

o Recent sore throat or skin infection ® suggests post-streptococcal glomerulonephritis

o Family history of haematuria or deafness ® suggests Alport syndrome

EXAMINATION • Examine for:

o Fever ® suggests UTI

o Oedema ® suggests nephrotic syndrome



o Hypertension ® suggests acute nephritis, chronic renal scarring or chronic renal insufficiency

o Rash & joint swelling ® suggests Henoch-Schönlein purpura

o Bruises & purpura ® suggests idiopathic thrombocytopaenic purpura

o Abdominal mass ® suggests Wilm’s tumour

INVESTIGATION • The choice of investigations depends on the renal pathology suspected:

o Urine MC&S

o Nuclear medicine & USS

o FBC, coagulation screen & sickle cell screen o U&Es, creatinine, Ca2+, PO43-, and urate

o Throat swab

o Antistreptolysin O titre (ASO), C3 & hepatitis B antigen

• Transient, benign haematuria can occur ® but it is a diagnosis of exclusion

• A renal biopsy might be indicated in the following situations: o Persistent haematuria for >6 months

o Unexplained abnormal renal function

o Chronic glomerulonephritis

Proteinuria

• Transient, mild proteinuria frequently occurs in children with viral infections and is self-limiting ® in

contrast, nephrotic syndrome causes persistent heavy proteinuria

• Children normally produce <60 mg/m2/24h of urinary protein ® proteinuria is defined as either:

o Early morning urine protein:creatinine ratio ® >20 mg/mmol

o 24 hour urine sample ® >5 mg/kg

• The causes of proteinuria include:

EXAMINATION • Physical examination should evaluate for signs of renal disease, including:

o Oedema ® especially periorbital, scrotal & ankle

o Ascites

o Pleural effusion ® uncommon

o Hypo- / hypertension

INVESTIGATION • Appropriate investigations include:

o Urine dipstick

o Early morning protein:creatinine ratio



o U&E and creatinine

o Serum albumin & lipids o MSU for MC&S

o Throat swab, ASO titre, anti-DNaseB

o Complement C3, C4

PAEDIATRICS – NEUROLOGICAL SYMPTOMS


Introduction

• Important neurological symptoms in children are:

o Paroxysmal episodes ® ‘fits, faints & funny turns’

o Headache

o Vomiting & ataxia

• Important signs are:

o Focal neurology o Altered consciousness or coma

• Global or specific developmental delay can be a manifestation of neurological disease ® as can

abnormalities of head size or shape

Paroxysmal episodes • Transient episodes of altered consciousness, abnormal movements or abnormal behaviour are a

common presenting problem

• The first task is to distinguish true epileptic seizures from faints and funny turns ® an accurate witness

account is essential

HISTORY • Provoking events ® exactly when and where the episode occurred, and what the child was doing just

before

• Description of the episodes: o Any altered consciousness or awareness?

o Abnormal movements involving limbs or face ® unilateral or bilateral?

o Altered tone ® rigidity or sudden fall?

o Altered colour ® pallor or cyanosis?

o Eye movements o Duration of the episode

o Any trigger? ® e.g. flashing lights or breath-holding

• Other important features to establish include: o Birth history, any developmental delay, or any recent head injury

o Family history ® both epilepsy and febrile convulsions run in families

• The key differential diagnoses of epileptic seizures include:



• Causes of acute seizures include:

GENERALISED TONIC CLONIC SEIZURES • These are characterised by:

o Tonic phase of rigidity with loss of posture ® followed by clonic movements of all four limbs

o Loss of consciousness o Duration ® 2–20 minutes

o Postictal drowsiness

• Febrile convulsions are usually of this sort

ABSENCE SEIZURES • These are characterised by:

o Brief unawareness lasting a few seconds

o No loss of posture

o Immediate recovery o Might be very frequent

o Associated with automatisms ® e.g. blinking, lip-smacking

PARTIAL SEIZURES • These are characterised by:

o Involvement of only a part of the body o May be associated with an aura

o May spread to involve the entire body ® secondary generalisation

o Consciousness may be retained (simple partial seizure) or impaired (complex partial seizure)

FAINTS (VASOVAGAL SYNCOPE) • Features include:

o Usually occur in teenagers

o Provoked by emotion, hot environment

o Preceded by nausea & dizziness o Sudden loss of consciousness and posture

o Rapid recovery

BREATH-HOLDING ATTACKS • These have the following characteristics:

o They are provoked by temper or frustration ® usually in children between 6 months and 6

years of age



o The screaming toddler holds his or her breath in expiration, goes blue, then limp, and then

makes a spontaneous recovery

REFLEX ANOXIC SEIZURES • These have the following characteristics:

o They are provoked by pain (usually a mild head injury) or fear o The infant or toddler becomes pale and loses consciousness ® reflective syncope,

secondary to vagal-induced bradycardia

o The subsequent hypoxia may induce a tonic-clonic seizure

RIGORS • Rigors are transient exaggerated shivering in association with a high fever

EXAMINATION • The well child:

o Physical examination is often normal in idiopathic epilepsy

o However, particular attention should be paid to:

§ Skin ® neurocutaneous syndromes are associated with epilepsy, particularly

tuberous sclerosis and neurofibromatosis

§ Optic fundi ® fundal changes may occur in congenital infections &

neurodegenerative disease

• The convulsing child: o Physical examination of an infant or child presenting acutely with generalised tonic-clonic

seizures has a different emphasis ® reflecting the likely causes

o Important features include:

§ Fever ® febrile convulsions or intracranial infection

§ Anterior fontanelle ® tense or bulging in raised ICP

§ Meningism

§ Optic fundi ® papilloedema in raised ICP

§ Focal neurological signs

§ Altered level of consciousness

o NB: Always measure blood glucose urgently in a convulsing child to identify and treat hypoglycaemia

Headache

• An acute headache commonly occurs as a non-specific feature of any febrile illness, but can be a feature of meningitis

• Recurrent headaches are very common in children ® but serious causes are rare

• RED FLAG symptoms for headaches in children may indicate the need for imaging, and include: o Sudden onset, severe headache

o Headache lasting several days or progressing in severity o Weight loss

o Associated with straining ® e.g. coughing, or increased by lying down

o Morning headache ® especially associated with vomiting

o Seizures or focal neurology



• Common differential diagnoses for headache in children include:

HISTORY • Important features include:

o Site ® frontal, temporal, bilateral or unilateral

o Intensity ® e.g. severe, throbbing

o Duration and frequency

o Provoking factors ® e.g. stress, food

o Associated symptoms ® e.g. weakness, paraesthesia, nausea or vomiting

o Ongoing illness ® e.g. fever (meningitis), diabetic ketoacidosis (cerebral oedema)

SIMPLE TENSION HEADACHES • These are characterised by the following:

o Symmetrical and band-like in nature

o Gradual onset

o Duration ® <24 hours

o No associated nausea or vomiting

o Often recur frequently

o Affect ~10% of school children

MIGRAINE • Can be unilateral and throbbing in nature

• With or without visual aura, area of visual loss or fortification spectra

• Associated nausea, vomiting & abdominal pain

• Duration ® several hours

• Trigger factors ® stress or relaxation, foods (e.g. cheese, chocolate)

• Family history o NB: Migraine can be classified as:

§ Common ® no aura

§ Classical ® aura preceding headache

§ Complex ® associated neurological deficit (e.g. hemiplegia, ophthalmoplegia)



HEADACHE FROM RAISED ICP • Worse in recumbent position ® i.e. during the night or early morning

• Associated with nausea & vomiting • Pain is usually mild and diffuse • Personality changes may develop

EXAMINATION • Attention should be paid to the following signs in a child with recurrent headache:

o Blood pressure ® e.g. hypertension can occur in aortic coarctation

o Pulse ® radio-femoral delay indicates aortic coarctation

o Visual acuity ® refractive errors cause headaches

o Papilloedema ® a late sign of raised ICP

o Focal neurological deficit ® especially cerebellar signs (e.g. posterior fossa tumour)

Loss of consciousness

• The acute development of a diminished level of consciousness is a medical emergency

• In the majority of cases, a systemic problem (rather than a primary brain disorder) is responsible

• Common causes of loss of consciousness include:

• The cause might be evident from the history ® but if not, clinical evaluation is the key after emergency

management (ABC approach)

• NB: It is important not to perform lumbar puncture in an acutely comatose child, as raised ICP is likely

EXAMINATION • Systemic examination:

o ABC

o Temperature

o Blood glucose

o Signs of coning ® hypertension, bradycardia, irregular respiration

o Signs of physical abuse or injury

• Neurological examination: o AVPU score / GCS score

o Pupils:

§ Small ® suggests opiate or barbiturate poisoning

§ Large ® suggests postictal state

§ Unequal ® suggests severe head injury or intracranial haemorrhage

o For meningism

o The fontanelle

PAEDIATRICS – MUSCULOSKELETAL SYMPTOMS


Introduction

• Disorders of the musculoskeletal system can present in a variety of ways

• The common presenting symptoms include: o Limb or joint pain o Fever

• Important signs are: o Limp o Altered posture o Point tenderness o Reduced range of movement

Limp • A limp is an abnormality of gait

• It can be painful or painless, and the cause varies with age:

• The most common cause of an acute limp in a well child is transient synovitis (‘irritable hip’)

• The must-not-miss diagnoses are septic arthritis, osteomyelitis, and slipped upper femoral epiphysis

HISTORY • The history should establish:

o Duration ® chronic limp is unlikely to be caused by infection

o Any prodromal illness (e.g. sore throat) or trauma o Presence and location of any pain

EXAMINATION • Physical examination can begin by observing the child walking ® if this can be done without distress

• Important physical signs include:

o Fever ® suggests bone or joint infection

o Skin rashes o Range of movement

o Point tenderness or signs of inflammation



o Unequal leg length o Spinal abnormality ® e.g. hairy patch

o Neurological signs ® check tone, power & tendon reflexes

INVESTIGATION • Useful investigations may include:

o Imaging ® X-rays above and below the focal point, USS of the joint, MRI

o Nuclear medicine ® isotope bone scans

o FBC / CRP

o Blood cultures ® if febrile

o Joint aspiration

Limb pain

• Pain in a limb can arise from the bone, joint, or soft tissue ® in the lower limbs, pain might be

associated with a limp

RECURRENT LIMB PAIN • So-called ‘growing pains’ are common in the lower limbs ® features include:

o Common between 3-5 yrs and 8-12 yrs o Occurs in evening and night

o Predominantly lower limbs

o Normal examination o They NEVER feature:

§ Functional disability

§ Limp § Morning symptoms

§ Always in one leg only

• An important rare cause of limb pain, especially at night, is malignant deposits in the bone (e.g. leukaemia)

• Vitamin D deficiency may also be a cause of non-specific limb pain in children ® especially in at-risk

ethnic groups

ACUTE LIMB PAIN • In a young infant this might present as pseudoparalysis

• Important causes include: o Trauma

o Osteomyelitis or septic arthritis

o Sickle cell disease ® ‘painful crisis’

o Meningococcal sepsis

• Trauma is usually accidental ® but non-accidental injury should also be considered

• Osteomyelitis usually presents with a painful, immobile limb in a febrile child ® the long bones around

the knee are the most common site of infection



Joint pain

• Arthralgia usually reflects inflammation ® i.e. arthritis

• Diagnostic possibilities depend on whether the presentation is acute or insidious, and whether one or several joints are involved

• Causes of acute monoarthralgia (and associated clinical clues) include:

o Septic arthritis ® fever & inability to move

o Transient synovitis (‘irritable hip’) ® recent cold

o Haemophilia ® easy bruising

o Juvenile idiopathic arthritis (JIA) ® chronic pain & swelling

o Trauma ® immediate symptoms with no chronicity

• Polyarthritis might have an acute onset, but it is more likely to run a chronic & relapsing course

• Common causes of polyarthritis include: o Inflammatory:

§ JIA § SLE

§ Henoch-Schönlein purpura

o Infectious / reactive: § Viral § Mycoplsma

§ Rheumatic fever

Inequalities of limb length

• This is caused by shortening or overgrowth in one or more bones in the limb

• Causes include trauma, neuromuscular disorders & congenital malformations

• Treatment is surgical

Normal postural variants

• These are common and may resolve without treatment

• These include:

o Genu varum (‘bow legs’) ® common in infants and toddlers up to 2 yrs

o Genu valgum (‘knock knees’) ® physiologically seen during the third and fourth years

o Pes planus (‘flat feet’) ® often present in toddlers

o Intoeing: § Infants ® metatarsus varus

§ Toddlers ® medial tibial torsion

§ Children ® femoral anteversion

• Pathology should be suspected if there is: o Rapid or severe progression

o A positive family history

o Asymmetry

o Association with any abnormal signs o A posture variant outside the limits of normal age range

PAEDIATRICS – HAEMATOLOGICAL SYMPTOMS


Introduction

• In childhood, disorders of the blood or bone marrow often present with striking physical signs, rather than complex symptomatology

• The pallor of anaemia is the most common sign ® but abnormal bruising or bleeding, splenomegaly / hepatomegaly, or a propensity to infection can reflect an underlying haematological problem

Pallor

• It is easy to miss mild anaemia ® especially in patients with pigmented skin

• Pallor is best observed in the conjunctiva and palmar creases

o NB: Peripheral vasoconstriction also causes pallor ® e.g. in hypovolaemic shock

ANAEMIA • The history and physical examination will often provide an idea of the likely cause ® causes include:

• Few symptoms will occur with haemoglobin above 7-8 g/dL ® except in acute blood loss

• Mean haemoglobin values in infancy and childhood are:

o 2 weeks ® 13.0–20.0

o 3 months to 6 years ® 9.5–14.5

o 7–12 years ® 11.0–16.0

HISTORY • This should include enquiry about:

o Presence of chronic disease (especially renal), or prematurity

o Gastrointestinal symptoms

o Dietary history ® adequate iron intake?

o Family history ® relatives with inherited disorders (e.g. sickle cell disease, thalassaemia, or

hereditary spherocytosis)

o Place of birth ® sickle cell screening has been part of the Guthrie test in the UK since 2002

EXAMINATION • Age and ethnic group:

o Afro-Caribbean ancestry ® sickle cell disease

o Mediterranean & Asian ancestry ® thalassaemia



• Associated signs:

o Jaundice ® suggests acute haemolysis

o Petechiae / bruising ® suggests bone marrow failure

o Splenomegaly ® suggests haemolysis, haemoglobinopathy, or marrow failure

INVESTIGATION • The most important initial investigation is a FBC to confirm reduced haemoglobin, and document red

cell indices:

o ¯ MCV ® suggests iron deficiency, thalassaemia

o MCV ® suggests folate / B12 deficiency

o ¯ MCHC ® suggests iron deficiency, thalassaemia

o Additional valuable information from the FBC includes:

§ Reticulocytes ® increase suggests haemolytic anaemia, decrease suggests

marrow aplasia

§ Pancytopaenia ® suggests marrow failure or hypersplenism

o Peripheral blood film can also reveal blasts commonly seen in leukaemias

• Depending on the initial results, further investigations to clarify the cause might include:

o Iron studies ® serum iron, ferritin, and total iron-binding capacity

o Coombs’ test (aka direct antiglobulin test) ® positive in immume0mediated haemolysis

o Folate / vitamin B12

o Haemoglobin electrophoresis

o Red cell enzymes ® glucose-6-phosphate dehydrogenase (G6PD), pyruvate kinase

o Bone marrow aspiration

Bleeding disorders

• Normal haemostasis requires integrity of the coagulation factors, functional platelets, and their interaction with the vessels

• Disorders of coagulation may be hereditary or acquired

CLINICAL EVALUATION • The history and examination aim to establish:

o Is there a generalised haemostatic problem?

o Is it inherited or acquired?

o What is the likely mechanism> ® vascular, platelets, coagulation, or a combination

• Investigations will be required to establish the precise nature of the underlying abnormality

CAUSE OF BLEEDING DISORDERS • The causes of bleeding disorders can be divided into vascular defects, platelet defects, or

coagulation defects

• The most common vascular problem is Henoch-Schönlein purpura

• Bruising with thrombocytopaenia in a well child is commonly due to idiopathic thrombocytopaenic purpura

• Inherited coagulation disorders are uncommon ® but haemophilia must be considered in a male infant

or child with a bleeding tendency



• NB: It is important to rule out bleeding disorders when considering bruising in the context of non-accidental injury

• Causes of bleeding disorders include:

HISTORY • Age of onset ® inherited disorders usually present in infancy but, if mild, may not be detected until

adulthood

• If the child has had a haemostatic challenge (e.g. tonsillectomy) without excessive bleeding ® then a

bleeding disorder is unlikely

• Family history ® note that up to 1/3 of cases of haemophilia are from spontaneous mutation

EXAMINATION • The most common clinical manifestation is excessive bleeding into the skin ® but spontaneous

bleeding into other sites such as epistaxis, haemarthrosis, and haematuria can also occur

• Generally speaking:

o Bleeding into skin and mucous membranes ® platelet or vascular disorder

o Bleeding into muscles or joints ® coagulation disorder • Spontaneous bleeding from multiple sites suggests a generalised haemostatic disorder

INVESTIGATION • Laboratory investigation of a suspected bleeding disorder initially includes:

o Blood film o U&Es / LFTs

o Platelet count ® normal is 150–450 x 109 /L, and spontaneous bleeding occurs <30

o Coagulation screen ® prothrombin time, activated thromboplastin time, and thrombin time

• Further investigation for tissue factors should be done by a tertiary haematological centre



Splenomegaly

• In neonates and very thin children, the tip of the spleen is often palpable

• The spleen can enlarge during acute infections, and in various haematological disorders

• Hepatosplenomegaly suggests a different aetiology from that associated with isolated splenomegaly:

Type of cause Splenomegaly Hepatosplenomegaly Infective Viral ® EBV, CMV

Bacterial ® septicaemia, typhoid Protozoal ® malaria, toxoplasmosis, leishmaniasis

Congenital infections Infectious mononucleosis Hepatitis

Haematological Haemolytic anaemia ® spherocytosis, G6PD-d Haemoglobinopathy ® b-thalassaemia, sickle cell Idiopathic thrombocytopaenic purpura

Haemoglobinopathy ® b-thalassaemia

Malignancy Lymphoma Leukaemia

Lymphoma Leukaemia

Collagen disorders Juvenile chronic arthritis Systemic lupus erythematosus

-

Storage disorders - Glycogen Lipid Mucopolysaccharidosis

Liver disease - Portal hypertension

• Differential diagnosis of a left-sided abdominal mass includes: o Splenomegaly

o Renal masses ® Wilms’ tumour, hydronephrosis

o Neoplasia ® neuroblastoma (non-renal), lymphoma

• In sickle cell disease:

o Splenomegaly is present in early life ® but splenic infarction reduces the size of the spleen

o A sudden increase in spleen size suggests a sequestration crisis

HISTORY • Systems review ® this might elicit symptoms related to the many infective causes

• Family history ® ask about inherited anaemias, storage disorders (e.g. Gaucher’s disease)

EXAMINATION • Look for coexistent signs, such as:

o Lymphadenopathy

o Hepatomegaly o Pallor o Fever o Rash

INVESTIGATION • Haematological ® FBC, blood film, reticulocyte count

• Infective ® serology (e.g. EBV), blood cultures, film for malaria parasites

• Malignancy ® bone marrow aspiration

• Liver disease ® LFTs, hepatitis serology

• Abdominal USS



Lymphadenopathy

• Lymph node enlargement, particularly in the cervical region, is a common problem in children, and may be normal

• Local infection is the most common cause of regional lymphadenopathy, but uncommon sinister causes of persistent or progressive lymphadenopathy do exist

• Causes of cervical lymphadenopathy include: o Acute, short duration:

§ Reactive and secondary to local infection in throat or scalp § Cervical adenitis

o Persistent, non-inflamed:

§ Reactive and secondary to local infection § Tuberculous adenitis

§ Neoplasia ® lymphoma, neuroblastoma

• Causes of generalised lymphadenopathy include:

Type of cause Example Infective Infectious mononucleosis

Rubella Toxoplasmosis CMV HIV infection

Malignancy Acute leukaemia Lymphoma

Immunological Juvenile chronic arthritis Kawasaki disease Atopic eczema Sarcoidosis

• RED FLAGS for worrying lymph nodes include:

o Rapid growth o Skin ulceration

o Fixation to skin or fascia

o >3cm with hard consistency o >3cm for more than 6 weeks despite treatment

HISTORY • The history should establish:

o Duration ® <4 weeks in most infections, >1 yr less likely to be neoplastic

o Constitutional symptoms ® e.g. weight loss, fever, night sweats

o Rash ® associated rash suggests viral exanthems

o Pets ® toxoplasmosis or cat scratch fever

o Travel contacts and family history ® tuberculosis

o Drugs ® phenytoin, carbamazepine

EXAMINATION • Palpate all nodal sites ® look for regional or generalised lymphadenopathy

• Examine the nodes:

o Size ® more likely to be significant if large (>1 cm), firm, or fixed



o Erythema & tenderness ® suggest bacterial adenitis

o Drainage region ® ENT & scalp for cervical nodes

o Skin ® infective lesions, atopic eczema & exanthems

o Abdomen ® hepatosplenomegaly

• Also note systemic signs ® e.g. weight loss and pallor

INVESTIGATION • The diagnosis is apparent in most children, and further investigations are unnecessary in transient node

enlargement with local infection, or in the context of diagnosed systemic illnesses ® e.g. EBV, atopic eczema, and Kawasaki disease

• By contrast, lymphadenopathy presenting in the following contexts requires investigation to establish an underlying diagnosis:

o Persistent significant cervical lymphadenopathy: § FBC ® to determine infection

§ Chest X-ray ® to check for TB, lymphoma

§ Tuberculin skin test ® positive suggests tuberculosis, but weak false positives can

be caused by non-tuberculous mycobacteria

§ If malignancy is suspected ® a lymph node biopsy might be indicated

o Generalised lymphadenopathy: § FBC ® plus differential

§ Monospot & EBV IgM antibodies § Chest X-ray

§ Abdominal USS

§ Bone marrow aspiration should be considered § Lymph node biopsy should be considered

• NB: Constitutional symptoms & hepatosplenomegaly might or might not be present

o Lymphadenitis: § Acutely infected nodes are tender with associated erythema and heat

§ If untreated, they can form an abscess ® indicated by the presence of fluctuance

§ An USS of the node will help to identify an abscess ® which may need surgical

drainage

§ Uncomplicated lymphadenitis is treated with antibiotics

PAEDIATRICS – SHORT STATURE


Growth

• Four phases of growth are recognised:

o Infantile phase (birth to 1 yr) ® dependent on nutrition; insulin and thyroxine also play a

crucial role

o Childhood phase (1 yr to 5 yrs) ® dependent on growth hormone & thyroxine

o Mid-childhood phase (5 yrs to puberty) ® increased levels of adrenal androgens influence

growth

o Pubertal phase ® growth spurt caused by increased levels of sex steroids

• Growth is assessed by measuring three specific parameters: o Height (or length in children unable to stand)

o Weight o Head circumference

• Centile charts showing the normal range of values for these measurements from before birth to

adulthood are available ® in preterm infants, the corrected age should be used until 2 yrs

Definition

• A definition of short stature requiring further evaluation is:

o A height below the 0.4th centile for age o A predicted height less than the mid-parental target height

o An abnormal growth velocity ® height changing by more than the width of one centile band

over 1–2 years

• Causes of short stature include:

o Familial short stature o Constitutional delay of pubertal growth spurt o Endocrine disorders:

§ Growth hormone deficiency § Hypopituitarism

§ Hypothyroidism

§ Cushing syndrome / steroid excess o Chromosomal disorders:

§ Turner syndrome ® neck webbing, wide-spaced nipples, low hairline in girl

§ Silver-Russell syndrome

§ Prader-Willi syndrome ® obesity, hypotonia, small genitals in boys

o Skeletal dysplasias:

§ Achondroplasia ® disproportionate limbs & trunk

§ Mucopolysaccharidosis ® short trunnk

o Emotional / psychosocial deprivation

o Chronic illness:

§ Congenital heart disease § Cystic fibrosis

§ Cerebral palsy

§ Chronic renal failure

• NB: Endocrine causes of short stature are often associated with increased weight

PAEDIATRICS – SHORT STATURE


History

• This should elicit information about: o Early childhood illness & systemic disorders

o Parental height ® the genetic height potential is estimated by calculating the target centile

range (TCR) from the mid-parental height (MPH)

§ MPH = father’s height + mother’s height / 2 ® plus 7 cm for boys / minus 7 cm for

girls

§ TCR = MPH centile ±10 cm in boys / ±8.5cm in girls

o Family history ® of inherited skeletal dysplasias

Examination • Height ® measure accurately with a wall-mounted, calibrated stadiometer

• Growth velocity ® a minimum of two measurements, 6 months apart

• Dysmorphic features ® these might identify a syndrome

• Weight

• Visual fields and fundi ® might indicate a pituitary tumour

• Stage of puberty

Investigation

• Bone age ® estimated from X-rays of the left wrist ® delayed skeletal maturity in constitutional pubertal delay

• Karyotype ® to identify Turner syndrome

• Skeletal survey ® in disproportion (skeletal dysplasias)

• Endocrine investigations ® TFTs & growth hormone provocation test

• CT / MRI ® for suspected craniopharyngioma

• MRI ® of pituitary

• NB: Height should be monitored over 6–12 months in response to parental concern ® regardless of

current centile

Summary

PAEDIATRICS – DEVELOPMENTAL DELAY


Introduction

• Normal development depends on genetic potential and on the environment

• There is a wide variation in normal rates of development in all spheres: o Gross motor o Vision & fine motor o Hearing & speech o Social behaviours

• Delay can be global or specific

• Delay can present through: o Parental concern

o Routine surveillance

o Concern of teacher, health visitor, etc.

• Warning signs of developmental delay include:

Age Sign 8 weeks Not smiling in response

Poor eye contact Head lag Silent baby ® no coos / gurgles

8 months Poor interaction Not sitting with support Not babbling

18 months Not recognising own name Not walking three steps alone Not using first words

24 months Not giving / receiving affection Unable to build a three-brick tower Not linking two words

3 years Unable to play Unsteady gait Not using more than 50 words

Global delay

• An intellectually impaired child is delayed in all aspects of development ® but not all children with

general delay are intellectually impaired:

o ~40% will have a chromosomal abnormality o 5–10% will have developmental malformations

o 4% will have a metabolic cause

• Causes of global developmental delay include:



HISTORY • Birth history ® details of pregnancy and birth including prematurity, hypoxia, and significant perinatal

events

• Family history ® of learning disability

• Developmental milestones

• Social history ® risk factors (e.g. psychosocial deprivation)

• NB: It is important to distinguish developmental delay from developmental regression ® the latter

suggests a serious inherited neurodegenerative disorder

EXAMINATION • Developmental assessment • Appearance ® dysmorphic features in syndromes associated with delay (e.g. Down syndrome,

Williams syndrome, fragile X syndrome)

• Head circumference ® microcephaly

INVESTIGATION • These are directed towards identifying a specific aetiology, and will include:

o Karyotype ® Down syndrome, fragile X syndrome

o TFTs

o Congenital infection screen o Serum and urine amino & organic acids

o Brain MR spectroscopy

Specific developmental delay

• Two common and important examples of delayed development in specific areas are walking and speech

DELAYED WALKING • The percentage of children who are walking unsupported is:

o 50% by 12 months

o 90% by 15 months

• Further assessment is indicated if a child is not walking unsupported by age 18 months

• Many will be normal late walkers, especially if a ‘bottom shuffler’ ® but a small percentage will have

an underlying problem:

Normal variants Organic causes Familial ‘Bottom shuffler’ ‘Commando crawler’

Cerebral palsy Congenital dislocation of the hip Duchenne muscular dystrophy (in boys)

• Examination:

o Hips ® signs of dislocation (e.g. waddling gait, leg length discrepancy, limited abduction)

o Tone, power, and tendon reflexes in all limbs

o Locomotion ® ‘commando crawler’ or ‘bottom shuffler’?

• Investigations:

o Imaging ® of hips or spine



o Creatine kinase ® for Duchenne muscular dystrophy

o Vitamin D level & bone profile

SPEECH & LANGUAGE DELAY • Speech refers to the meaningful sounds that are made, whereas language encompasses the complex

rules governing the use of these sounds for communication

• Language can be further divided into language comprehension and language expression ®

independent delays can occur in either aspect

• The development of language is highly dependent on general intellectual development

• Normal speech & language development:

o 6 months ® babbles

o 12 months ® says ‘mama’ or ‘dada’, understands simple commands, and responds to name

o 18 months ® single words with meaning

o 2 years ® speaks in phrases

o 4 years ® conversation

• The causes of delay in speech & language development include: o Hearing impairment o Environmental factors ® lack of stimulus

o Global delay ® the most common cause

o Psychiatric disorders ® e.g. autism

o Familial

o Bilingual household

• NB: Check the hearing in any child with delayed speech

• It is worth distinguishing between delay and actual disorders of speech and language ® such as

stammering, or dysarthria due to mechanical problems (e.g. cleft palate) or neuromuscular problems

(e.g. cerebral palsy)

PAEDIATRICS – NEONATAL PROBLEMS


Feeding difficulties

• Difficulties in establishing feeding can occur with both breast- and bottle-fed newborn infants

• Poor feeding in an infant (especially one who has previously fed normally) might indicate severe disease

® it is important to note the quantity & frequency of feeds, and plot the baby’s weight on a centile chart

WEIGHT GAIN IN INFANTS • All babies lose weight in the first week

• Full term infants should regain their birth weight by day 7–10 ® preterm babies by day 14

BREAST FEEDING • Breast feeding should be encouraged by antenatal education ® and then supported until it is

established

• Potential problems include:

o Latching on (chin forward & head tilted back) ® the areola should be in the baby’s mouth as

this encourages successful feeding and avoids damage to the nipple

o Cracked nipples ® occur commonly and are more likely if the baby does not latch on well

o Breast engorgement ® prevented by demand feeding and alleviated by expression after

feeding

o Intestinal hurry ® frequent loose stools are common on day 4 or 5, when the supply of milk is

plentiful ® this is normal

BOTTLE FEEDING • Problems that might occur include:

o Incorrect reconstitution ® electrolyte abnormalities

o Inadequate sterilisation ® gastroenteritis

o Allergy to cow’s milk protein in formula

• Milks differ in composition, and age-specific milks should be used

Vomiting

• Babies often regurgitate (posset) small amounts of milk during and between feeds ® this is of no

pathological significance, and should not be confused with vomiting (the forceful expulsion of gastric contents through the mouth)

• Vomiting in the newborn might reflect systemic disease or intestinal obstruction ® it is important to

establish whether the vomit is:

o Bile-stained o Blood-stained

o Frothy / mucoid o Milk

• Bile-stained vomit indicates intestinal obstruction until proven otherwise

• Blood in the vomit might be of maternal or infant origin ® it could be due to swallowed maternal blood,

trauma from a feeding tube, or haemorrhagic disease of the newborn (vitamin K deficiency)

• Plain abdominal X-ray is the most useful investigation ® important findings include:

o Dilated loops in obstruction (atresia, malrotation) or ileus (e.g. sepsis)

o ‘Double bubble’ ® in duodenal atresia

o Pneumatosis (gas in bowel wall) ® in necrotising enterocolitis

o Free air ® in perforation (may require lateral decubitus view)



• Important causes of vomiting in the newborn include:

Jaundice

• Physiological jaundice occurs in most newborns ® especially preterms

• A combination of increased red cell breakdown & immaturity of hepatic enzymes causes unconjugated hyperbilirubinaemia

• It is exacerbated by dehydration ® which can occur if establishment of feeding is delayed

• Features of physiological jaundice are: o Onset AFTER 24 HRS of birth

o Resolves within 2 weeks

o Unconjugated bilirubin

o Total bilirubin <350 µmol/L

• Onset of jaundice in the first 24 hours of life is ALWAYS pathological ® causes include:



• Recognition and treatment of severe neonatal unconjugated hyperbilirubinaemia is important to avoid bilirubin encephalopathy or kernicterus (brain damage due to deposition of bilirubin in the basal

ganglia)

• Early evaluation of conjugated hyperbilirubinaemia (>20 µmol/L) is important to allow early (<6

weeks) diagnosis and treatment of biliary atresia ® pale stools may also be present

• Jaundice persisting for >2 weeks also requires investigation

JAUNDICE IN THE FIRST 24 HOURS • This is always pathological

• The most common cause is haemolysis, which can be due to:

o Haemolytic disease of the newborn ® rhesus or ABO incompatibility

o Intrinsic red cell defects ® spherocytosis, G6PD deficiency, pyruvate kinase deficiency

• Congenital infection can also cause jaundice at this time

JAUNDICE BETWEEN 2 DAYS & 2 WEEKS • The most common cause is physiological jaundice ® due to liver enzyme immaturity & red cell

breakdown

• Prematurity, bruising, or polycythaemia (haematocrit >0.65) can exacerbate it

• Physiological jaundice usually peaks on the third day of life

• Infection can also cause unconjugated hyperbilirubinaemia at this time

PROLONGED JAUNDICE • Prolonged jaundice (>2 weeks in term infants, >3 weeks in premature infants) is usually an

unconjugated hyperbilirubinaemia, which can be due to:

o Breast milk jaundice ® affects ~15% of healthy breast-fed infants; the cause is unknown, and

it usually resolves by 3–4 weeks of age

o Infection ® particularly UTI

o Congenital hypothyroidism ® this should be detected on neonatal screening

• Investigations for babies presenting with prolonged jaundice include: o Conjugated fraction

o FBC

o Blood group ® mother and baby

o Coombs’ test (DAT) o Urine culture

o TFTs ® if routine screening has not been performed

• Conjugated hyperbilirubinaemia is associated with dark urine & pale stools ® causes include

hepatitis and biliary atresia o NB: Early diagnosis of biliary atresia is important, as delay in surgical treatment beyond 6

weeks of age compromises outcome

MANAGEMENT OF NEONATAL JAUNDICE • Investigations are directed towards establishing the cause

• Clinical estimation of the severity is unreliable, and a transcutaneous or plasma bilirubin must be measured in any significantly jaundiced infant



• Bilirubin encephalopathy occurs when unconjugated bilirubin is deposited in the brain ® especially in

the basal ganglia & cerebellum

o This presents initially with lethargy, rigidity, eye-rolling, and seizures ® long-term sequelae

include choreoathetoid cerebral palsy, sensorineural deafness & learning difficulties o Many factors in addition to the bilirubin level influence this risk, including:

§ Gestational age ® risk increases for preterm infants

§ Postnatal age ® risk decreases with increasing age

§ Serum albumin level ® risk increases with hypoalbuminaemia

§ Coexistent asphyxia, acidosis, or hypoglycaemia

• Consensus charts exist indicating levels at which treatment should be initiated, bearing those factors in mind

• Treatment options are: o Phototherapy

o Exchange transfusion

• Phototherapy: o Blue light of wavelength 450 nm converts the bilirubin in the skin and superficial capillaries into

harmless water-soluble metabolites ® these are excreted in urine and through the bowel

o The eyes are covered to prevent discomfort o Additional fluids are given to counteract increased losses from the skin

• Exchange transfusion: o This is required if the bilirubin rises to levels considered dangerous despite phototherapy

o It rapidly reduces the level of circulating bilirubin o In haemolytic disease, it also removes circulating antibodies and corrects anaemia

o Techniques vary, but conventionally the exchange is done via umbilical artery & vein catheters

® twice the infant’s blood volume (i.e. 2 x 80 mL/kg) is exchanged over ~2 hours

o It carries associated with transfusion, fluid overload, electrolyte imbalance, and depletion of coagulation factors

o In immune-mediated haemolysis, administration of immunoglobulin is recommended as it

may avoid the need for exchange transfusion

Breathing difficulties

• In the newborn, breathing difficulties are referred to as respiratory distress

• The signs of respiratory distress are:

o Tachypnoea ® >60 /min

o Recession ® subcostal or intercostal

o Nasal flaring o Expiratory grunting

o Cyanosis

• The most common cause of breathing difficulties in the newborn is respiratory distress syndrome due

to surfactant deficiency ® usually confined to preterm infants

• The major causes of respiratory distress in term infants include:



RESPIRATORY DISTRESS SYNDROME • Only ~1% of cases of RDS occur in the term neonate ® such infants are often difficult to ventilate, but

do respond to surfactant therapy, in a similar manner to the preterm with RDS

TRANSIENT TACHYPNOEA OF THE NEWBORN • Transient tachypnoea of the newborn (TTN) is a benign self-limiting condition believed to be caused

by a delay in the normal reabsorption of lung fluid at birth

• It is more common after caesarean section, and in infants of diabetic mothers

• Chest X-ray might show a streaky appearance with fluid in the horizontal fissure

• It usually resolves within 48 hours

MECONIUM ASPIRATION • ~10% of term neonates pass meconium before birth ® it is rare in preterm babies

• It is associated with foetal distress (e.g. hypoxic insult)

• Inhalation of meconium results in bronchial obstruction and collapse, chemical pneumonitis, and

secondary infection ® all leading to respiratory distress

• There is also a high incidence of pneumothorax / pneumomediastinum) & pulmonary hypertension

PNEUMONIA • Risk factors include premature labour and prolonged rupture of membranes (>24 hrs)

• Group B streptococcal infection is an important cause of early onset pneumonia

PNEUMOTHORAX • Spontaneous pneumothorax occurs in ~1% of term infants and does not usually require intervention

• In ventilated babies it is commonly iatrogenic

• Diagnosis is by CXR and chest transillumination

PERSISTENT PULMONARY HYPERTENSION OF THE NEWBORN • This is where pulmonary vascular resistance remains high after birth, causing right to left shunting at

both atrial & ductal levels with severe cyanosis

• It can occur as a primary disorder, but is more commonly a complication of perinatal asphyxia, meconium aspiration, severe sepsis, or RDS

• CXR might should pulmonary oligaemia

• Diagnosis is suggested by differences in PaO2 on pre- and post-ductal ABGs, and confirmed by echocardiography

DIAPHRAGMATIC HERNIA • In this uncommon malformation (~1:2000–4000 births), a hole in the diaphragm (usually on the left)

allows the abdominal contents to herniate into the chest

• Most are diagnosed on antenatal USS ® intubation and nasogastric aspiration (to avoid inflammation

of the bowel) are the early management

• Surgical repair is then undertaken once the neonate is stable

• If not antenatally diagnosed ® it usually presents with failure to respond to resuscitation at birth

• The apex beat & heart sounds are displaced to the right, with poor air entry on the left

• The relatively high mortality is caused by pulmonary hypoplasia due to compression of the foetal lung



CONGENITAL MALFORMATIONS OF THE LUNG • Respiratory distress may arise from various congenital malformations, including:

o Pulmonary hypoplasia ® poor lung development may occur with oligohydramnios or

neuromuscular abnormalities

o Bronchopulmonary sequestration ® development of a section of lung tissue not connected

to the pulmonary vasculature

o Cystic adenomatoid malformation ® presence of a cystic, non-functioning area of lung

o Congenital lobar emphysema

CHYLOTHORAX • A rare cause of respiratory distress ® due to accumulation of lymphatic fluid in the pleural cavity

• Can be spontaneous (due to an anomaly of lymphatic drainage) or iatrogenic (from birth trauma or thoracotomy)

Neonatal seizures

• Seizures are more common in the neonatal period than at any other time of life ® as the neonatal brain

is mostly excitatory

• The manifestations of neonatal seizures are different from those in older children ® and it can be

difficult to distinguish true seizures from normal baby movements

• The main types of seizure are:

o Subtle seizures ® eve deviation, apnoeas, autonomic phenomena, and oral movements

o Clonic seizures ® seen as focal rhythmic & slow jerking (generalised clonic seizures are not

seen in neonates)

o Myoclonic seizures ® rapid isolated jerks

o Tonic seizures ® manifest as flexor or extensor posturing

• The causes of neonatal seizures include:

• The perinatal & birth history together with physical examination will often indicate the cause

INITIAL INVESTIGATIONS • Blood glucose, electrolytes, Ca2+, Mg2+ • CSF analysis ® for infection

• Cranial USS ® for haemorrhages

• Further investigations as indicated include:

o Inborn error of metabolism ® serum ammonia, lactate & amino acids

o Congenital infection screen



o Cranial CT / MRI • A detectable cause is present in the majority, and varies with the time of onset • The most common causes are hypoxic ischaemic encephalopathy, intracranial haemorrhage, CNS

infection, and congenital abnormality

Congenital malformations

• Up to 70% of major congenital malformations can now be detected antenatally using USS, and can affect any of the major organ systems

CRANIOFACIAL DISORDERS • Cleft lip & palate:

o This affects about 1:1000 babies

o It manifests as:

§ Cleft lip alone ® 35%

§ Cleft lip & palate ® 25%

§ Cleft palate alone ® 40%

o Aetiology remains unclear, but is thought to be polygenic

o Some drugs are specifically teratogenic ® including anticonvulsants and methotrexate

o Cleft lip is usually diagnosed at the 20-week scan ® but isolate cleft palates are difficult to

diagnose antenatally

o Some affect infants can be breast-fed ® others require special long teats or other feeding

devices o Surgical repair is carried out at 6–12 months of age on the palate, and either early (first week)

or late (3 months) on the lip

• Pierre Robin anomaly: o This is an association of micrognathia, posterior tongue displacement, and midline cleft of

the soft palate o Prone positioning maintains airway patency until growth of the mandible is established

o The cleft is surgically repaired

GASTROINTESTINAL DISORDERS • Oesophageal atresia:

o The incidence is 1:3500 live births o A trachea-oesophageal fistula (TOF) is usually present

o As the foetus is unable to swallow during intrauterine life ® there is associated

polyhydramnios o Diagnosis should be established before the first feed by attempting to pass a feeding tube into

the stomach and checking its location by X-ray

o ~40% of cases have other abnormalities ® e.g. as part of the VACTERL association:

§ Vertebral § Anorectal

§ Cardiac

§ Tracheo-oesophageal § Renal

§ Limb (radial)



ABDOMINAL WALL DEFECTS • Gastroschisis:

o The incidence is 1:5000

o The bowel protrudes without any covering sac through a defect in the anterior abdominal wall adjacent to the umbilicus

o This is usually an isolated anomaly

• Exomphalos: o The abdominal contents herniate through the umbilical ring and are covered with a sac formed

by the peritoneum & amniotic membrane o It is often associated with other congenital abnormalities

NEURAL TUBE DEFECTS • These arise from failure of fusion of the neural plate in the first 28 days after conception

• The incidence in the UK has fallen dramatically since the 1970s due to improved maternal nutrition, folic acid supplementation, and better antenatal screening

• The three main types are: o Spina bifida occulta

o Meningocoele o Myelomeningocoele

• They are usually in the lumbosacral region ® however, neural tube defects also include:

o Encephalocoele ® extrusion of the brain & meninges through a midline skull defect

o Anencephaly ® the cranium & brain fail to develop

• Spina bifida occulta: o The dorsal vertebral arch fails to fuse

o There may be an overlying skin lesion ® e.g. a tuft of hair or dermal sinus

o Tethering of the cord (diastomyelia) can cause neurological deficits with growth

• Meningocoele: o This is uncommon (~5% of NTDs)

o The smooth, intact skin-covered cystic swelling is filled with CSF

o There is no neurological deficit or hydrocephalus o Excision and closure of the defect is undertaken after 3 months

• Myelomeningocoele: o This accounts for more than 90% of overt spina bifida

o These are open, with herniation of both the cord & meninges ® there is commonly CSF leak

o Neurological deficits are always present, and can include:

§ Motor & sensory loss in the lower limbs § Neuropathic bladder & bowel

o In addition, there is often scoliosis and associated hydrocephalus due to the Arnold-Chiari malformation (herniation of the cerebellar tonsils through the foramen magnum)

o Surgery prevents infection but does not restore neurological function

CONGENITAL TALIPES EQUINOVARUS (CLUB FOOT) • This is where the entire foot is fixed in an inverted & supinated position

• This should be distinguished from ‘positional talipes’ ® where the deformity is mild and can be

corrected with passive manipulation



• Referral should be made to orthopaedic surgeons, and physiotherapy as early treatment is important to prevent disability

COMPLEX GENITAL ANOMALY • Visible abnormalities of the external genitalia range from the common (e.g. hypospadias) to complex

genital anomaly (where the sex of the individual is unclear)

• Around 1 in 4500 infants have complex genital anomaly at birth

• It is a very difficult area, raising strong emotions in families ® great care should be taken when

discussing investigation & management

• The most common cause of ambiguous external genitalia is congenital adrenal hyperplasia (CAH) leading to virilisation of a female infant

o NB: 2/3 of children with CAH will experience a life-threatening, salt-losing adrenal crisis at 1–3

weeks of age, and this might be the first indication in boys ® urgent treatment with IV saline & glucose is required

• Examination should include measurement of the blood pressure (low in an adrenal problem)

• Investigations will include:

o Chromosomal analysis ® for sex-determining region of Y chromosome & karyotype

o USS ® of pelvic organs & adrenal glands

o Electrolyte & endocrine investigations ® 17-hydroxy-progesterone is increased in CAH

• The chromosomal sex does not necessarily determine the sex of rearing ® the decision may include

consideration of the ability to fashion external genitalia

Documents

XSS27 - Paediatrics