Visual Diagnosis ARS

Visual Diagnosis

Joseph A Zenel, MDOregon Health & Science University

October 2005

7-year, 8-month-old male with complaints...

Mother brings the

“Note”

Problem List

• 10/13/89 Age 6 yrs, Sinusitis/pharyngitis

• 12/20/89 Acute left otitis media

• 1/29/91 Pharyngitis (TC negative)

Further History• 5/7/90 Age 6 yr, 8 mos – Leg pains/ drinking a lot

– Ht 49.25 in (90%) –Wt 46 lb (50%)

– PE normal, BP 80/60– Vision 20/40 R, 20/50 L

– Urine dipstick normal• SG 1.015, pH 5.0

Further History

• 12/4/90 Age 7 yr, 4 mos– Sharp, intermittent chest pain for 3 weeks– Stomach ache 1X/wk– Active in basketball

– PE: tenderness over sternum

– DX: Chostochondritis– RX: Ibuprofen

Further History

• 1/2/91 One month later– Still complains of chest pain– Appetite poor

– PE: normal• Heme test stool negative X4

– DX: GE Reflux?– RX: Antacid

Further History

• 1/29/91 3 weeks later– Low grade fever– Sore throat

– PE: Pharynx injected– TC negative

– DX: Pharyngitis

Today• Congested– Gasping during sleep

• Stomach ache/ poor appetite• Vomits 3 X every morning• Occasional headaches for 2 weeks• Lower right backache • Constipated– Dark, hard stools

• Thirsty

Vital Signs

• T 97.5° F

• P 88

• R 24

• BP 90/62

• HT 49.25 in (45%)• WT 45 lb (5%)

Physical Exam

• Poor posture

• Generalized weakness

• DTR’s 1+

• Otherwise normal

Key Features• Poor appetite• Vomiting• Thirst• Constipation• Stomach ache• Backache • Poor Ht, Wt gain• DTRs 1+, weakness

Anorexia

• Stress• Reflux esophagitis• Infection• Depression• Constipation• Drugs• Malignancy• Iron deficiency

• Hypothyroidism• Hypercalcemia• Diabetes insipidus• Lead poisoning• Inflammatory

bowel disease• Other

Vomiting• GE reflux• Gastroenteritis• Appendicitis• Intestinal

obstruction• Peptic ulcer• Systemic infection• Pancreatitis• Pyelonephritis

• CNS infection, tumor• Migraine• Electrolyte, Mg, Ca

abnormalities• DKA• Congenital adrenal

hyperplasia• Cough• Drugs/ingestion• Amino, organic

acidurias

Polydipsia?

• Psychogenic polydipsia• Diabetes mellitus• Diabetes insipidus• Hypercalcemia• Hypokalemia• Renal tubular acidosis• Neuroblastoma

Constipation: Common

• Chronic idiopathic

• Dietary causes

• Painful defecation

Constipation: Other• Hirschsprung Disease• Meconium ileus equivalent• Spinal dysraphism• Lead poisoning• Hypokalemia• Hyper- and hypocalcemia• Muscular weakness• Hypothyroidism • Diabetes mellitus

Myalgia• Trauma

• Febrile infection

• Myositis • Myoglobinopathies• Dermatomyositis• Systemic lupus erythematosis• Fibromyalgia

• Hyponatremia• Hypercalcemia

Growth Chart

• If ↓Ht ≥ ↓ Wt:– Suspect endocrine etiology

• If ↓Wt > ↓ Ht:– Suspect poor calorie intake– Suspect ↑calories

expenditure– Suspect ↑calorie elimination

Growth Chart

• If ↓Ht ≥ ↓ Wt:– Suspect endocrine etiology


expenditure– Suspect ↑calorie elimination

Decreased Reflexes, Weakness

• Myopathy

• Neuropathy– Guillain-Barre Syndrome

• Hypothyroidism

• Hypokalemia• Hypercalcemia

Laboratory

• Uric Acid 6.6 (2.2-7.7 mg/dL)

• Calcium 15 (8.5-10.8 mg/dL)• Phosphorus 2.7 (3.8-5.4 mg/dL)

• Total protein 7.0 (6.0-8.5 g/dL)• Albumin 4.1 (3.0-5.5 g/dL)

• AST, ALT normal

Laboratory• UA– Sp grav 1.012– pH 5.0– Ketones trace– Glucose neg– 0 rbc– 4-6 wbc– Nitrites neg– Bact neg– Calcium oxalate crystals, occasional

Hypercalcemia• Listlessness• Irritability • Depression

• Headache • Weakness

• Anorexia• Constipation • Vomiting• Polydipsia, polyuria• Weight loss

Hypercalcemia• Pancreatitis• Gastritis, peptic ulcer

• Renal stones• Renal failure• Nephrogenic DI

• Bone pain

• Bradycardia• Hypertension

• Gait disturbance• Hyporeflexia• Proximal muscle weakness

Hypercalcemia: Neonatal

• Neonatal primary hyperparathyroidism

• Secondary hyperparathyroidism– Maternal hypocalcemia

• Familial hypocalciuric hypercalcemia

• Autosomal recessive hypophosphatasia

• Idiopathic infantile hypercalcemia

Hypercalcemia: Neonatal

• Excessive calcium supplementation

• Subcutaneous fat necrosis

• Williams syndrome– Transient hypercalcemia– Elfin facies– Mental retardation– Supravalvular aortic stenosis– Deletion chromosome 7

Hypercalcemia: School-aged Children

• Hyperparathyroidism– Parathyroid adenoma

• Autosomal dominant hereditary hyperparathyroidism

• Multiple endocrine neoplasia (MEN) type I• Hyperparathyroidism• Pancreatic tumor• Pituitary tumors

Hypercalcemia: Malignancy

• Lymphoma– Hodgkin, non-Hodgkin

• Ewing sarcoma• Neuroblastoma• Langerhans cell histiocytosis• Rhabdomyosarcoma• Ovarian small cell carcinoma• Renal tumors

Hypercalcemia: Other

• Thyrotoxicosis• Adrenal insufficiency• Granulomatous disease

• Drugs– TPN– Vitamin D intoxication– Vitamin A – Thiazide– Lithium– Theophylline

Hypercalcemia: Normal PTH

• Williams syndrome• Subcutaneous fat necrosis• Familial hypocalciuric hypercalcemia• Vitamin A/ Vitamin D excess• Hyperthyroidism• Malignancy• Granulomatous disease• Adrenal insufficiency

Hypercalcemia: PTH Excess

• Primary hyperthyroidism– Adenoma– Familial – Ectopic

• Secondary hyperparathyroidism– Maternal hypoparathyroidism– Renal osteodystrophy

Hypercalcemia: Workup

• History, family history• Physical examination

• Calcium, ionized calcium, phosphorus• PTH levels• Alkaline phosphatase• Urine: calcium, phosphorus, calcium/creatinine ratio• Vitamin D levels

• Imaging– X-ray– Neck, renal ultrasound, CT, MRI– Nuclear scan

Hypercalcemia: Treatment

• Hydration– Increase urinary calcium output

• Loop diuretic– Inhibit tubular reabsorption

• Calcitonin– Inhibit renal readsorption, bone resorption

• Biphosphonates– Block bone resorption

Hypercalcemia: Surgery

• Primary hyperthyroidism

• Recurrent renal stones

• Persistent calcium levels > 12.5 mg/dL

Parathyroid Adenoma

• Rare in children– Prolonged parathyroid hyperplasia– Genetic abnormality

• 80-85% primary hyperparathyoidism

• ↑PTH, hypercalcemia, hypophosphatemia, acidosis, ↑ urine calcium, ↑ urine phosphorus

• Surgery– Cure rate 95-98%

10-year-old male with acute abdominal pain

McBurney Point

• Point 1.5 - 2 inches on straight line from anterior superior iliac spine to umbilicus

• Appendix location

McBurney Sign

• Rebound tenderness and sharp pain when McBurney point is palpated

• Appendicitis

Blumberg Sign

• Rebound tenderness

• Peritoneal irritation• Appendicitis

Psoas Sign

• Pain with right leg hyperextension– Inflammation over psoas muscle

• Appendicitis• Pelvic abscess

Obturator Test

• Pain with right hip flexion, internal rotation–Pain in hypogastric area

• Ruptured appendix• Pelvic abscess

Rovsig Sign

• RLQ pain worse with LLQ palpation, percussion

• Peritoneal irritation• Appendicitis

Aaron Sign

• Pain, distress in area of patient’s heart, stomach – During palpation of

McBurney point

• Appendicitis

Hilton, Practical Pediatric Radiology

Abdominal CT Scan

Clues to Real Abdominal Pain

• Hand points to pain:

– The farther from umbilicus, the more likely pain is organic in origin

Apley Rule

Clues to Real Abdominal Pain

“Touch me not!”

• Eyes closed during examination

4-yr-old male with 12 hours acute abdominal pain &

vomiting

Pertinent Findings

• Bilious vomiting

Open eyes!

“Go ahead and touch!”

Pertinent Findings

• Dry mouth, sunken eyes

• Apley rule– Pain away from umbilicus

• RUQ pain

Pertinent Findings

• No rebound tenderness

• ? Right CVA tenderness

DDX: Bilious Vomiting

• Intestinal obstruction– Anatomical• Malrotation with volvulus• Duodenal stenosis• Annular pancreas• Mass • Other

– Functional ileus• Infection• Drug

Malrotation

• Malposition

• Right-sided duodenum

• Right-sided proximal jejunum

Malrotation

Normal

Malrotation1:6000 births

• Failure of normal rotation of embryonic intestine

– Cecum on left

– Small bowel on right

– Little or no fixation of bowel

– Duodenum frequently truncated and fused to colon

Malrotation

Volvulus

Normal

Brushfield Spots

• Speckled iris

• Elevated white spots on iris in a concentric ring with pupil– Iris connective tissue aggregates

• Associated with Down syndrome– Can be normal

Kayser-Fleischer Ring• Copper deposition on inner surface of

Descemet membrane – Outer margin of cornea

– Pathognomonic for Wilson disease

Tuberous Sclerosis

• Skin– Hypopigmented spots– Ash leaf (95% infants)– Adenoma sebaceum

(angiofibromas)– Shagreen patch

• Brain– 95% subependymal nodules,

parenchymal hamartomas

• Eyes– Retinal phakoma

• Other– Renal hamartoma– Heart rhabdomyoma

Aniridia •Wilms Tumor

• Aniridia

• Hemihypertrophy

• Cryptorchidism

• Hypospadias

• Mental retardation

Pupil Size

• Dilation– Neuroblastoma (catecholamines)– Atropine

• Constriction–Morphine

Leukokoria • Retinoblastoma

• Corneal opacity

• Congenital cataract

• Hyphema– Anterior chamber

fluid

• Retinal disease

Ectopia Lentis

• Displacement ormalposition of crystalline lens of eye

• Marfan syndrome– Most frequent cause

of heritable ectopia lentis

– Tall stature, arachnodactyly, joint laxity, mitral valve prolapse, aortic dilatation

eMedicine

Iritis, Uveitis • JRA

• Kawasaki disease

• Sarcoidosis

• Herpetic keratitis

• Corneal ulcer

• Trauma

Oculocutaneous Albinism

• Pigment absence, dilution– Hair, skin and eyes

• Common features– Strabismus– Photophobia– Decreased visual acuity– Absent binocular vision

Herpes Zoster

• Grouped vesicles on anerythematous base– Dermatome distribution– Does NOT cross midline

• Reactivation 1-3 dermatomes– Latent virus in dorsal root

ganglion

• Most common distribution T3-L2, facial (Trigeminal)

Impetigo

• Vesicles, bullae

• Multiple lesions generally at same site

• Different sizes

• Often coalesce

AAP

• Preseptal cellulitis– Erythema, edema

may extend over superior orbital rim onto brow

• Orbital cellulitis– Erythema, edema

does NOT extend over superior orbital rim onto brow• Orbital septum

prevents edema from extending over brow

Angioedema • Edema extending into deep dermis or subcutaneous tissue– Mast cell

degranulation, dilated venules, dermal edema

• Causes– Allergens– Insect venom– Infections– Blood products, IVIG

Neuroblastoma• Periorbital ecchymoses– Obstruction of palpebral vessels by tumor tissue

in & around orbits

• Clues:– Abdominal, mediastinal mass– HTN– Orbit displacement

• DDX:– Trauma, orbital fracture– Abuse

• Classic hemophilia– Hemarthroses– Deep muscle hematomas

• Trauma– Battered child– Bruises on multiple facial

planes

AAP

Kawasaki Disease

• Fever for 5 days

• 4/5 conditions:– Bilateral, non-exudate

conjunctivitis– Mucous membrane

changes– Edema, erythema

peripheral extremities – Polymorphous,

nonvesicular rash – Cervical

lymphadenopathy• Node > 1.5 cm

Limbic sparing

SJS• Serious systemic disorder– Fever, respiratory &/or GI

symptoms 10%-30% cases

• 2 mucous membranes and skin– Purulent conjunctivitis, uveitis– Skin rupture with denuded skin

• Skin lesions– Small blisters, purpuric

macules or atypical target lesions

4-month-old male with cough and “wheeze”

Past History• Full-term gestation, NSVD

• Apgars 5, 8– Limp, weak cry, blue extremities– Brief blow-by oxygen

• 15-year-old G1P0 mom – Good prenatal care

• Birth weight 3.8 kg

Age Day 12• Wt 3.9 kg

• T 36.8°C (98.2°F) HR 160 R 80

• Physical exam–Mild subcostal retractions– Clear breath sounds– No murmur, grunting, or flaring

3-weeks of age

• Wt 4.3 kg

• T 36.6°C (97.8°F) HR 140 R 96

• Physical exam– Pink, mild subcostal retractions– Clear breath sounds– No murmur, grunting, or flaring

Normal Respiratory Rates

• Newborn 30 - 80 bpm

• 1 year 20 - 40 bpm

• 3 year 20 - 30 bpm

• 6 years 16 - 22 bpm

Respiratory Effort

• Neonates primarily use diaphragm for respiratory effort

• Infants may also use abdominal musculature

• Intercostal muscle use by age 6-7 years

Tachypnea in Infant

• Fever• Cardiac insufficiency• Pain• Hypoxemia• Pulmonary disease• Anemia• Metabolic acidosis• CNS lesion

Age 2 months

• Wt 6.1 kg

• T 36.2°C (97.1°F) HR 148 R 60– No retractions– Clear breath sounds– No murmur

• “Occasional wheeze when cry”

Now at 4 months of age:

• Occasional cough, clear rhinorrhea

• Occasional audible wheeze

Vital Signs

• T 36.2°C – 97.1°F

• HR 120

• R 60

• Sat 98% (RA)

• Wt 8.1 kg, Ht 68 cm

Physical Exam

• No retractions

• Clear breath sounds, occasional expiratory wheeze

• No murmur

Stridor

• Inhalation accompanied by high-pitched sound

• Indicates high degree of laryngeal or tracheal obstruction

–Croup–Epiglottitis–Tracheitis–Foreign body–Laryngotracheal malacia, stenosis

Wheeze• Musical noise sounding like a squeak– Often heard continuously during inspiration

or expiration– Usually louder during expiration

• Whistling of air through narrowed airways– Asthma– Bronchiolitis– FB– Airway compression

DDX: Wheeze, Infants• Bronchiolitis• GE reflux• Asthma• Bronchopulmonary dysplasia• FB• Airway compression– Vascular ring/aberrant vessel

• Cystic fibrosis

DDX: Cough, Infants

• Asthma• GE reflux• Respiratory infection• Airway compression

• Vascular ring, aberrant vessel

• FB• Cystic fibrosis

CXR

• Opacification, right lower lobe– Superior and/or– Posterior

segments– Probable

volume loss

Diaphragmatic Hernia

• Left side – 90% cases

• Bowel gas pattern in chest

• Heart pushed into right side

Mediastinal Mass

• Smooth or sharply defined midline mass

• Displacing trachea

DDX: Opacification

• Pulmonary abscess

• Congenital lung anomaly– Bronchogenic cyst– Cystic adenomatoid malformation– Pulmonary sequestration

Pulmonary Sequestration

• 3 cm soft tissue mass– Azygoesophageal recess

• Atelectasis of RLL

• Hyperexpansion of RUL, RML


Separate blood supply


• Nonfunctional mass of embryonic and cystic pulmonary tissue– Does not communicate with airway– Separate blood supply

• Intralobar– Lower lobe (presents as “infection”)

• Extralobar– Left sided (often with diaphragmatic hernia)


Surgical resection–Prevent recurrent infection

Cystic AdenomatoidMalformation

• Cysts communicate with main tracheobronchial tree

• Vascular supply from the bronchial circulation

• Proliferation of terminal bronchioles with suppression of alveolar growth and development

Tic

Involuntary repeated contraction of a certain

group of associated muscles

Tic

• No loss of consciousness or amnesia

• Disappear during sleep

• Conscious control can be achieved for short period

Tourette’s Syndrome

•Multiple tics

• Compulsive barking, grunting

• Shouting obscene words

Tourette’s Syndrome

• True “tic” occurs during voluntary movement

• False “tic” does not occur during conscious voluntary movement

RX: Tourette’s Syndrome• Clonidine

• Clonazepam

• Carbamazepine

• Haloperidol

• Pimozide

Conversion Disorder

• Repetitive patterns of voluntary movement or sensory deficit that suggest medical condition–Not intentionally produced

• Initiation/exacerbation preceded by conflict/stressors

Conversion Disorder

• The more medically naive, the more implausible the symptoms

• “Side to side”

• No flexion

Conversion Disorder• Repetitive

voluntary motor behavior

• Always facing camera– Factitious?–Malingering?

Chorea

Irregular, spasmodic, involuntary movements of the

limbs or facial muscles

Sydenham Chorea• Usually associated with juvenile acute rheumatic

fever.

• Characterized by involuntary, irregular, jerky movement by the face, neck, and limbs– Can be unilateral

• Movement intensified by voluntary effort but disappear in sleep

Sydenham Chorea

• May appear months after strep pharyngitis

• Usually resolves within month

• IVIG, valproic acid, haloperidol

14-year-old female with fever, rash

Petechiae • Red-purple, nonblanchable discoloration < 0.5 cm diameter

• Cause:– Intravascular

defects– Infection– Thrombocytopenia Meningococcemia

DDX: Fever, Petechiae

• Meningococcemia

• Rocky Mountain Spotted Fever

• Scarlet Fever

• Pneumococcal septicemia

• Enteroviral infectionPneumococcal sepsis

Scarletina

Meningococcemia

• Neiseria meningitidis – Gram negative diplococci

• URI prodrome followed by high fever, headache

• Two forms (1.2 cases/100,000)– Septicemia - petechiae, purpura, shock– Septicemia and meningitis

• WBC ↓ or ↑• Thrombocytopenia with or w/o DIC

Meningococcemia• Complications– CNS damage– Skin necrosis– Adrenal insufficiency– GI hemorrhage

• Treatment:– IV cefotaxime, ceftriaxone initially– IV PCN G, once sensitivity known– Fluids, supportive care– Treat contacts• Rifampin, ceftriaxone, ciprofloxacin

Rocky Mountain Spotted Fever

• Rickettsia rickettsii– Tick-borne illness– Tick attached >6 hours

• 500-1000 cases/yr USA– Eastern seaboard– Southeastern states

• Incubation 3-12 days– Mean 7 days


• High fever (> 40° C)

• Abrupt onset – Myalgia, severe headache,

photophobia, vomiting, diarrhea

• 85-90% rash– 2-6 days after fever onset– Macules/papules on palms, soles – Becomes petechial and spreads

centrally


• Thrombocytopenia

• Hyponatremia

• Proteinuria

• Abnormal LFTs

• CSF pleiocytosis

• Conjunctivitis,splenomegaly, edema, meningismus

• Dx: Acute and convalescent titres

• Rx: Doxycycline– Treat if suspect

disease, particularly if in endemic area

Acute Foot Pain

A 7-year-old male

complains of left foot pain for one day

• 10/9/03 Children face growing danger from so-called community acquired staphinfections.

Osteomyelitis • Young children• Male: female 2:1

• Hx of minor blunt trauma orintercurrent illness (eg URI)

• Usually hematogenous origin– Penetrating trauma or surgery,

adjacent infection

• Staph aureus• Strep pyogenes• Other:– Strep pneumoniae (< 3 years of

age)– Group B strep -Neonates– Pseudomonas - puncture wounds

Osteomyelitis • Infants– Failure to move extremity– Pain on passive movement

• Children– Fever– Refusal to use extremity– Intense pain on palpation– Muscle spasm– Joint in position of most

comfort, slight flexion

• Skin findings LATE– Swelling, erythema, heat

10-year-old female with low-grade fever, rash

Physical Examination

• Skin:– Scattered papules on neck,

trunk, arms

– Vesicle clusters on right buttock with large bullous lesions and surrounding erythema

– No induration

– clustered vesicles right inner thigh, leg, foot

L5-S5

Seidel. Mosby’s Guide to Physical Examination

Definitions

• Vesicle– Elevated, circumscribed,

superficial lesion– Filled with serous fluid– NOT in dermis– < 1 cm in diameter

• Bulla– Vesicle > 1 cm in diameter

Herpes Zoster

• “Shingles”

• History of varicella

• Local paresthesias, pain prior to skin eruption

• Dermatomal distribution of grouped vesicles on an erythematous base

Herpes Zoster• Common in children– Varicella early infancy, in-utero– Immunocompromised– Latent virus in dorsal root

ganglion

• Reactivation 1-3 dermatomes– Does NOT cross midline

• Most common distribution T3-L2, facial (Trigeminal)

Herpes Zoster• Complications– 2° bacterial infection– Motor or CN paralysis– Encephalitis– Post-herpetic neuralgia– Disseminated herpes zoster

• Disseminated herpes zoster– Uncommon in

immunocompetent child

Dx: Herpes Zoster

• CBC: WBC nl or↓

• Viral culture: 48 hrs

• Tzanck smear–Giemsa stain–Wright stain

Herpes Zoster• DDX:–Linear eruption of

herpes simplex

–Contact dermatitis

– Impetigo

AAP

Rx: Herpes Zoster

• Supportive care– Control pain, pruritis

• IV acyclovir within 48-72 hours of onset

• IV acyclovir after 72 hours if:– Immunocompromised– Trigeminal involvement

8-month-old infant

• T 36 .2° C–97 .1° F

• P 148• R 20• P 110/51

Wt 5.2 kg Ht 58 cm HC 41 cm

Hypoalbuminemia: Edema

• Periorbital edema

• Scrotal edema

• Pitting edema of the lower extremities

Generalized Edema

• Accumulation of fluid in body tissues

– Increased capillary permeability

– Decreased oncotic pressure

– Increased hydrostatic pressure

– Impaired lymphatic drainage

Generalized Edema

• Increased capillary permeability

– Allergic reactions

– Infection• Staphylococcal scalded

skin syndrome

– Henoch-Schonleinpurpura

– Kawasaki disease

Generalized Edema

• Decreased oncoticpressure

(low serum albumin)

– Nephrotic syndrome

– Cystic fibrosis

– Protein-losing enteropathy

– Zinc deficiency

Generalized Edema

• Increased hydrostatic pressure

– Fluid overload

– Congestive heart failure

– Constricted pericarditis

Generalized Edema • Impaired lymphatic

drainage

– Usually localized to either one or more extremities

– Rarely generalized

Hypothyroidism: low T4

• Developmental delay

• Hair loss

• Weakness (hypotonia?)

• Impaired growth

• Hypothermia

• Myxedema

T 36 .2° C (97 .1° F)

Myxedema

• Relatively hard edema of subcutaneous tissue with:– Somnolence– Slow mentation– Hair loss– Hoarseness– Weakness

Growth Chart

• If ↓Ht > ↓ Wt:– Suspect endocrine etiology


expenditure– Suspect ↑calorie

elimination

Zinc Deficiency

• Mild– Poor appetite– Impaired growth

• More severe– Irritability, lethargy– Impaired immunity

• Most severe– Acro-orificial skin rash– Alopecia– Diarrhea

Zinc Deficiency

• Impaired absorption– Regional enteritis– Cystic fibrosis

• Inadequate intake

• Inborn error– Acrodermatitis

enteropathica

Infant Botulism: botulinumtoxin in stool

• Descending weakness

• Symmetric facial, truncal, extremity weakness

• “Rag doll cry”

• Bilateral ptosis

• Clostridium botulinumtoxin blocks AChrelease in peripheral synapses

– Impaired autonomic system• Constipation

– Impaired neuromuscular system

History

• Full term, NSVD– Birth weight 6 lb 7 oz (10%)– Breast fed

• Eczema, 2 months of age– Treated with vaseline

• Superinfected eczema, 3 months of age– Treated with antibiotics– Developed diarrhea

• Eczema, diarrhea persist

• 1 week ago, swelling of extremities – Acute scrotal swelling for 1 day

• Denies fever, vomiting,recurrent infections, anorexia

History• 2 month WCC only– Weight ~ 12 lbs (50%)– Received immunizations

• Diet: breast milk, fish broth

• Development:– Smiles, tracks, turns to voice– Hands to mouth– Can not lift head, sit, or roll over

• Family history:– Parents, two older sisters Healthy, average height, weight

Key Features

• Irritability

• Developmental delay/weakness

• Edema

• Excoriated, exudative, red skin– Mouth, rectum, extremities,

trunk, scalp

• Hair loss

DDX: Edema, Eczema, Weakness, Developmental Delay?

• Malnutrition, neglect• Protein sensitivity, malnutrition• Protein-losing enteropathy, malnutrition• Acrodermatitis enteropathica• Hypothyroidism• Wiskott-Aldrich syndrome• X-linked agammaglobulinemia• Phenylketonuria

Protein SensitivityAllergy to dietary proteins

• More common in infants <12 mos– FH of atopy common

• Older children have celiac-like symptoms– Steatorrhea– Hypoproteinemia– Chronic diarrhea

• Food challenge confirms – Skin test unreliable

• Usually disappears after 12 months of age

• Allergies to fish, eggs, peanuts more likely to be lifelong

Protein-losing Enteropathy

• Excessive loss of plasma proteins into GI tract in association with:

– Inflammation of bowel– Intestinal graft vs host– Acute/chronic infection– Venous or lymphatic obstruction– Malignant infiltration of bowel,

lymphatics


• Signs and symptoms:

• Hypoproteinemia• Malabsorption

– Diarrhea– Edema– Poor weight gain– Signs of vitamin and mineral

deficiencies


• Vascular – CHF– Constrictive

pericarditis

• Stomach– Gastritis– Polyps

• Small intestine– Celiac disease– Intestinal lymphangiectasia– Abetalipoproteinemia– Ischemia– Inflammatory bowel disease– Allergic enteropathy

• Colon– Ulcerative colitis– Hirschsprung disease

Celiac Disease

• Gluten sensitivity– Small intestine– Autoimmune response • Tissue transglutaminase

• Classic picture– Potbelly – Thin buttocks– Proximal arm and thigh muscle

wasting due to nutrient malabsorption

Celiac Disease 1:100-340

• Other signs – Irritability– Anorexia– Chronic diarrhea– FTT

• Diagnosis– 1-hour D-xylose test– 72 hour fecal fat

– Antiendomysial Ab– Antitissue transglutaminase Ab

Acrodermatitis Enteropathica• Inborn error of Zinc– Autosomal recessive– 1:500,000 Denmark

• Perioral and acral dermatitis• Alopecia• Diarrhea

• Diagnosis based on continued need for Zinc supplement

Wiskott-Aldrich Syndrome

• X-linked immunodeficiency– Low IgM, ↓CD8+ T cells

• Recurrent bacterial sinopulmonary infections• Eczema• Thrombocytopenia

• Autoimmune phenomena• Malignancies

Wiskott-Aldrich Syndrome1:1 million

• Present at birth with:– Petechiae, ecchymoses– Bloody diarrhea

• Diagnosis:– Low platelet count

– Low IgM, IgG– Normal to high IgA, IgE

– Anergy to delayed type hypersensitivity skin tests

X-linked Agammaglobulinemia(Bruton) 1:200,000

• Infants– Recurrent otitis media, pneumonia, sinusitis– Diarrhea (Giardia, Campylobacter)

• Atopy – Eczema– Allergic rhinitis– Asthma

• Diagnosis:– Low, absent IgM, IgG, IgA, IgE

Phenylketonuria1:15,000

• Skin– Eczema– Fair skin

• Mental retardation

• Seizures

• Extrapyramidal signs

Laboratory• Hgb 10.5 • Hct 31.4– MCV 75

• WBC 17.8– 48% seg– 29% lymph– 65 mono– 17% eos

• Plat 755 K

• Total protein 2.2 g/dL– (nl 5.0 - 7.5)

• Albumin < 1.0 g/dL– (nl 2.7 - 5.0)

• Free T4 0.90 ng/dL – Nl 0.7 - 1.8

• TSH 28.0 μIU/ml– Nl 0.28 - 5.0

Laboratory

• IgE 3864 IU/ml– Nl 0 - 230

• IgA Endomysial Ab: none detected

• Zinc 29.0 μg/L– Nl 66 - 144– Severe < 40

• RAST– Very high IgE to:• α-lactalbumin, eggwhite,

peanut, soybean, wheat

• Stool– Trace reducing

substances– Fat ↑

Diagnoses Treatment• Protein-losing

enteropathy

• Protein allergy

• Hypothyroidism?– ↑TSH, low nl T4

• Zinc deficiency – Probably nutritional

• Elemental formula

• Zinc supplement

• Refused thyroid replacement

Day 2

6 months later (14-months-old) • Total protein 4.4

– (nl 5.0 - 7.5)

• Albumin 2.5 – (nl 2.7 - 5.0)

• TSH, T4 normal

• Zinc 79.0 μg/L – (nl 66 - 144)

• Crawling, pulls to stand, cruising

• Stacks 2-3 cubes

• Babbles, “mama”

28-mos-old

• Diet– Chicken, rice, apples,

pears, sweet potatoes– Elemental formula

• No diarrhea or eczema

• Walking, running, jumping

• Eats with spoon, drinks from cup

• 100-200 words• 2 word sentences

Staph, Strep,

Either ... or Other?

Gp A Strep

• Throat culture (+)

• Scarletina rash

• Post pharyngeal cellulitis

Scarlet Fever Rash

• Diffuse erythema: neck, axillae, inguinal area– Spreads to rest of body– Toxin-producing Group A Strep

• “Sandpaper” texture

• Desquamates 7-14 days

Seven-year-old male: 10 days fever, 5 days sore throat, two days rash

EBV Infection

• Throat culture (-)• ASO titre (-)

• HSV culture negative

• Monospot (-)

• EBV Ab to Viral CapsidAg, IgG (+)

Infectious Mononucleosis

• Pharyngitis (1/3 exudative)• Generalized lymphadenopathy• Fever > 90%• Hepatosplenomegaly

• Maculopapular, red rash 3-15%– 80% rash if treated with

ampicillin, amoxicillin– Circulating IgG, IgM antibodies to

ampicillin demonstrable

Three-year-old male

StaphyloccalScalded Skin

Syndrome

• Systemic effects of exotoxin produced by Staph aureus– Causes of superficial cleavage of epidermis

• Nikolsky sign– Superficial layers of skin slide off deeper

layers when rubbed

Staphyloccal Scalded Skin Syndrome

• Treat as severe burn– Dehydration

• Vancomycin, clindamycin, oxacillin

• Toxin production suppressed with clindamycin– Binds to 50s ribosomal subunit– Interferes with protein synthesis– Suppresses monocyte synthesis of TNF

7-year-old male with fever, toe infection, rash and

hypotension

Toxic Shock Syndrome

• Fever, hypotension, rash– Circumoral pallor– Scarletina

• 3 or more systems– GI, mucous, muscular,

renal, hepatic, hematologic, CNS

• Cause:–Staph aureus– Group A Streptococcus

Lymphangitis

• Inflammation oflymphatics draining site of infection

Two-year-old female with 5 days of fever

Kawasaki Disease

Kawasaki Disease

• Fever lasting for 5 days

• Four of the five conditions:– Bilateral, non-exudate conjunctivitis– Mucous membrane changes– Changes of peripheral extremities • Edema, erythema

– Polymorphous, nonvesicular rash • Usually trunkal

– Cervical lymphadenopathy• Node > 1.5 cm

Incomplete Kawasaki“Atypical”

• 20% - 60% children with coronary aneurysms due to incomplete KD

• Consider incomplete KD in and any child with 5 days fever, no bacterial disease and 2 of following criteria:– With or w/o: 1) 2 or more classic KD criteria and

anterior uveitis (slit lamp)– Plus lab evidence of inflammation (↑WBC, ESR,

CRP, Platelets after 7 days fever, LFTs)

Nonbullous Impetigo

• All ages– Children aged 2-5 years more often

• Group A Strep (S. Pyogenes)– Spread from skin to nose, throat

• Staph aureus

• Thin-walled vesicles or pustules on red base– Prompt rupture with serum release– Honey-colored crust– 90% lymphadenopathy

NonbullousImpetigo

Pustule

Rupture

Serous fluid

Vesicles

Bullous Impetigo• All ages– Newborns, infants more often

• Staph aureus– Phage group II type 71– Exfoliatin toxin– Spread from nose to skin

• Vesicles enlarge into bullae 1-2 cm– Rupture 1-3 days– Thin, light-brown crust– Lymphadenopathy rare

AAP

Four-month-old female with pneumonia

History

• A 4-month-old female is admitted for pneumonia and labored breathing

• URI symptoms for 2 weeks– No fever

• Parents bring to ER when fast respirations develop

ER Exam

• T 37.8° C – 100° F

• R 70 bpm

• P 170 bpm

• SaO2 93% RA

ER Exam

• Decreased breath sounds left chest– Liver 2 cm below costal margin

• CXR: Left lower lobe consolidation

• Hgb 10, Hct 29.6

• WBC 10.6 – 42 S, 3 B, 40 L

ER Treatment

• Albuterol aerosol given–SaO2 96% RA (from 93%)–Medium crackles, left lower chest

• Admit to ward

• Dx: Pneumonia, LLL

CXR• Really big heart

• Increased pulmonary vasculature

• No lung consolidation

CXR• Really big heart



CXR

• Really big heart



Right Axis Deviation

• Lead I (-): S wave > R wave

• Lead AVF (+): R wave > S wave

Right Axis Deviation

• Lead I (-): S wave > R wave

• Lead AVF (+): R wave > S wave

Left Atrial Enlargement

Wide, M-shaped P waves

Myocardial Damage

ST Depression

DDX: Cardiomegaly• Congestive heart

failure

• Endocardial fibroelastosis

• Glycogen storage disease

• Cardiomyopathy

• Rhabdomyoma

• Congenital heart disease– Anomalous origin of

the coronary arteries– Coarctation of the

aorta– Septal defects– Large PDA

Cardiomegaly: Laboratory

• Echocardiogram• Troponin • Adenoviral titres• Metabolic screen– Serum amino acids– Urine organic acids, mucopolysaccharides,

oligosaccharides

Troponin > 2.3 ng/mL (nl 0.0 - 2.3)

Severe LV Dysfunction

Anomalous origin of the left coronary artery

• Dye enters from aorta

• Dye appears in left coronary artery and enters pulmonary artery

Anomalous origin of the left coronary artery

• Left coronary artery arises from pulmonary artery

• Decrease mycocardial perfusion by age 2 months– LV ischemia, infarction

• Severe CHF at 2-4 months of age– LV dysfunction– Mitral insufficiency

Absence Seizure • Short staring spells

• Short duration– 5 - 15 sec

• No postictal lethargy

• Synchronous 3Hz spike-and-wave

Tonic-Clonic Seizure

• Tonic phase (Stiffening)– Slow waves with

increasing amplitude and decreasing frequency

• Clonic phase (Jerking)– Repetitive

synchronous bursts of spike activity

• Postictal lethargy

Infantile Spasms

• Quick, lightening-like jerks

• Jack-knife flexion of the trunk

• Extensor spasms

• “Hypsarrhythmia”– High voltage slow

waves, spikes, and polyspikes – Background

disorganization

Ileal Atresia• Due to intrauterine

vascular obstructive accidents

• Symptomatic 1st day:–Bilious emesis–Abdominal

distension

Ileal Atresia

• 25% Polyhydramnios

• 60-75% fail to pass meconium

• DDX:– 10% CF with meconium ileus– 5% Hirschsprung disease of

colon and terminal ileum

Small Bowel Obstruction

• Duodenal atresia– Non-bilious or bilious

vomiting 1st day– Non-distended

abdomen

• Ileal atresia– Bilious vomiting 1st day– Distended abdomen

Adactyly Absent metatarsal and proximal, middle and distal phalanx.

Due to intrauterine local mesenchymal injury

Prognosis: Supportive shoe as adult?

16-year-old male with low back pain for 6 months

• ↓ R ankle reflex

• ↓ Strength R lower leg

• ↓ Sensation R lower leg

Spinal MRI

• Focal disc protrusion

• L5 - S1– Right side– Achilles tendon reflex

Seidel. Mosby’s Guide to Physical Examination

Herniated Disc• 1/3 due to Trauma– Rare in pre-adolescence

• Most injuries L5-S1

• Signs and symptoms– Pain: sitting, back flexion, radiates down leg, foot – Extension of spine relieves pain– Weakness, paresthesia of leg, foot

• Abnormal straight-leg raising test most common finding

• Treatment: rest, exercise, steroids, surgery if neurological findings persist

Documents

Visual Diagnosis ARS