Diseases Of Infancy & Childhood

Bernadette R. Espiritu, M.D. FPSP. Anatomic & Clinical Pathologist

DISEASE OF INFANCY & CHILDHOOD

• Neonatal age – 1st 4 weeks• Infancy – 1st year• Early childhood – 1-4 years• Late Childhood – 5-14 years

• An unborn child or POC with child parts in the 1st 8 wks after conception

EMBRYO

• unborn child / POC with child-parts not just placenta, 8 wks after conception to birth ("all-the-way-out with a beating heart”)

FETUS

• 1st 4 weeks of life birth• Most hazardous vulnerable period• Transition from IUlife• Circulation • Resp function take over• Maintenance of body temp

NEONATE

• 1st year - after birth

INFA

NT

• 1-4 y/o

• 5-14 y/o

PRE-TERM• Born < 37-38 weeks• Vital organs are premature

POST-TERM • Prolonged pregnancy, Post-dates, Post-

maturity

• pregnancy that lasts > 42 weeks (294 days from the 1st day of LMP)

• 7 % of all babies - born at 42 wks or later

POST-TERM RISK FOR MOTHERS

• Longer labors & operative delivery (forceps or vacuum-assisted birth)

• Vaginal trauma - large baby• C/S delivery• infection & wound complications & postpartum

hge

RISKS OF FETUS & NB: POST-TERM

• Placenta begins to age• Amniotic fluid vol decrease• Large baby • Meconium aspiration• Hypoglycemia

INFANT MORTALITY

- per 1000 live births die before their 1st birthday• 10x more in the1st wk of life than in the 2nd wk• Born< 34th wk with Wt 1-1500 g : 50%M

90%m• Born > 34th wk with Wt of 1-1500 g: 13%M

86%m

CAUSES OF DEATHS

1ST 12 MONTHS:Immaturity

RDS

Birth trauma, Birth asphyxia

Congenital anomalies

Complications of Pregnancy

Bacterial sepsis, Pneumonia,

Meningitis

CNS disease

Accidents

1st - 4th & 5th -14th y/oAccidents – leading

cause of death

Natural Diseases: Congenital anomalies Malignant neoplasm Pneumonia

• Duration of Human pregnancy: 40 +/- 2 wks• Most NB wt = 3300 +/- 600 g• Prematurity – AOG < 37 wks from LMP• Low Birth wt - < 2500 g are classified as:

AGA

SGA

LOW BIRTH WEIGHT: “SGA" and "preterm".

• Low birth weight

<2500 gm • Very low birth weight

<1500 gm• Extremely low birth wt

<1000 gm

SGA: • not grow properly in the uterus• organs will have

problems

• SGA CAUSES:

1) FETAL:

- reduce growth despite adeq nutrient from mother

a. chromosomal disorder

b. congenital anomalies

c. congenital infections

2) PLACENTAL

- 3rd trimester

- Uteroplacental insufficiency

a. infections

b. tumors

c. vascular lesions :

infarctions

3) MATERNAL

- Under nutrition

- Narcotic abuse

- Alcohol intake

- Cigarette smoking

- Vascular disease:

a. Toxemia

b. Chronic

c. Hypertension

IMMATURITY OF ORGANS

LUNGS

- 7th month – alveoli begin

to differentiate

- epithelial lining-cuboidal

not suited in effecting

transfer of O2 to blood

...Lungs

• 26th -32nd wks AOG – cuboidal epith > flat type I alveolar epithelial cells & type II cells that contain lamellar bodies

• TYPE I - flattened plate-like pavement covers 95% (membranous) of the alveolar surface

• TYPE II : rounded or granular which exhibits surface microvilli & contains osmiophilic lamellar bodies

…Type II

a. source of pulmonary

surfactant

b. involved in the repair of

the alveolar epithelium

after destruction of

Type I cells

• PULMONARY SURFACTANT :

“lecithin”phosphatidylcholine contained in a thin film

of phospholipid in the glycoprotein–containing

cell coat adjacent to the alveolar cell membrane

SURFACTANT: IMPORTANCE

1) lowers the surf tension of the alveolar lining & maintain the stability of the alveoli

2) synthesized in type II epithelial cells

& stored in the osmiophilic lamellar bodies

3) inadequate surfactant activity play a role in RDS of infants & adults

• IMMATURE LUNGS:

- Unexpanded

- red & meaty

- alveolar spaces incompletely expanded

- contain pink proteinaceous ppt & some squamous cells

• PRENATAL RESPIRATORY DISTRESS - large amount of amniotic debris,

squames, lanugo hair & mucus

• Hyaline membrane dis - Dilatation of the alveolar

spaces- Many air spaces- lined by

thick hyaline membranes

• IMMATURE KIDNEY

- formation of glomeruli:

incomplete- primitive glomeruli :

subcapsular zone- deeper glomeruli are

well-formed- complete nephrogenesis

34th wk AOG

Kidneys of FTneonate

(37 - 41 wks AOG):

full set of nephrons:

850 - 1,200,000 / k

EVENTS: PREGNANCY

1. growth retardation 2. nephrotoxic drugs adm to mothers

BRAIN

- Incomplete dev

- Surface smooth

- delineation of white & gray matter: ill-def- poorly dev myelination

of nerve fiber

BRAIN

Vital brain centrs

sufficiently dev

Homeostasis

not perfect

Poor vasomotor

control

Irreg resp

Feeble sweating

Inc size

persist EM hematopoiesis

Def - bil glucoronyl transferase

Def - hydroxylating enzymes Dec- CHON synthetic capacity

LIVER

APGAR SCORE• METHOD: evaluating physiologic condition

& responsiveness of NB > chance of survival

• Evaluation at 1 min or at

5 min• 10 – best condition

…APGAR SCORE

• 0-1 = 50% Mm in 1st mo. • 4 = 20% M in 1st mo.• 7 or > = 0% M in 1st mo.

SIGN 0 1 2

HR Absent < 100 > 100

Resp effort Absent Slow, Irregular Good, Crying

Muscle Tone Limp Some flexion of extremities

Active motion

Response to catheter in nostril(tested after oropharynx is clear)

No response Grimace Cough or sneeze

Color Blue, pale Body pink, extremities blue

Completely pink

APGAR SCORING

BIRTH INJURIES• INTRACRANIAL HGE - most common - hge may arise from tears in the dura or

rupture of vessels that traverse the brain - subs of the brain may be torn or bruised

leading to intraventricular hge into the brain substance

EFFECTS OF INTRACRANIAL HGE

• Sudden increase in ICP• Damage to the brain subs• Herniation of medulla into the foramen magnum• Serious fatal depression of function of vital

medullary centers

CAPUT SUCCEDANEUM: • Edema of the scalp

head pressed-

the cervix• prolonged or

difficult delivery • after ROM

- amniotic sac no longer

provides protective

cushion for baby's head

• progressive accumulation - interstitial fluid in the soft tissues of the skull: circ area of edema congestion & swelling

• assc with PROM

or

oligohydramnios

SYMPTOMS … CAPUT

• Soft puffy swelling of scalp• Swelling may or may not have discoloration• Swelling may extend over the midline of the

scalp • Seen- head presented 1st • Assoc w/ inc molding-head

PROGNOSIS• Complete recovery expected• Scalp regain normal contour

COMPLICATIONS• Jaundice - as the bruise breaks down into

bilirubin

CEPHALHEMATOMA:

Hge under the scalp ("subgaleal hematoma”)• No known risks• Dark red blood

under galea

aponeurotica over the

cranium • fairly common

during birth

• 25%Cephalhematoma underlying skull fracture

• CAUSES: Skull fracturesPrecipitate deliveryInapprop use of forcepsProlonged labor with disproportion

between the size of fetal head and birth canal

DEVELOPMETAL ANOMALIES

CONGENITAL MALFORMATIONS

• Present at birth• 3%NBmajor malformation

MALFORMATION – intrinsic abnormalities occurring during the developmental process

…Malformation

• Single body system congenital heart defects anencephaly

• Multiple body system

CAUSES: Malformation chromosomal problems genes of large effect deletions of chunks of a

chromosome polygenic

problems unknown

• DEFORMATION

- arise later

- represents an alteration in form/ structure resulting from a mechanical factor

- abn in shape, form or

position of body

CAUSE: Uterine constraint

35th - 38th wk; fetus grows > the uterine w/ relative decr of amniotic fluid

…Deformation

CAUSE:- Uterine constraint bet 35th - 38th wk

- fetus grows > the uterus w/ relative dec of the amniotic fluid

• Deformation from constraint with oligo-hydramnios

in utero(varus deformity)

• The feet are turned inward

CLUB FEET

• Maternal Factors: First pregnancy Small uterus Malformed (bicorn uterus) Leiomyomas

• Fetal or Placental Factors: Oligohydramnios Multiple fetuses Abn fetal presentation

• DISRUPTION

- 3rd main error of morphogenesis

- results from 2ndary destruction of interference with an organ or body region that was previously normal in development

- not hereditary

- caused by extrinsic or intrinsic factors: vascular insults - Ex: amniotic bands

Cause: extrinsic or intrinsic factors- vascular insults

- Ex: amniotic bands

• SEQUENCE: pattern of cascade anom(unrelated)

classic exam: POTTER OLIGOHYDRAMNIOS SEQUENCE

squashed ("Potter's") face and badly bent limbs

CAUSES: Oligohydramnios

1. Chronic leakage of amn fluid bec of ROM

2. Uteroplacental insuff resulting fr maternal HPN or toxemia of pregnancy

3. Renal agenesis – fetal urine impt constituent of amniotic fluid

Oligo-H SEQUENCE

• ANENCEPHALY aniridia / WT-1 complex “AGA“

• BRACHYDACTYLY (short fingers / toes)

• BRONCHIECTASIS

ANENCEPHALY• Failure of formation of fetal

cranial vault • Brain not form properly when

exposed to amn fluid • IUFD-signs of maceration, w/

skin slippage & reddening

• absence of cranial vault

- anencephaly

• EYESappear proptotic with anencephaly - the lack of

the skull

• EAR-low set

NEURAL TUBE DEFECT

• CAUSE: improper embryonic neural tube closure

• Most minimal defect: SPINA BIFIDA - with failure of vertebral body to completely form, but the defect is not open

SPINA BIFIDA

• Spina bifida - serious birth abn where the spinal cord is malformed & lacks its usual protective skeletal and soft tissue coverings

• May appear in the body midline anywhere from the neck to the buttocks

• Most severe form- spinal rachischisis: entire spinal canal is open, exposing the spinal cord & nerves

• More commonly, appears as localized mass - back covered by skin or by the meninges, the three-layered membrane that envelopes the spina cord

• Spina bifida - readily apparent at birth because of the malformation of the back and PARALYSIS below the level of the abnormality

FORMS OF SPINA BIFIDA• meningomyelocele• myelomeningocele• spina bifida aperta• open spina bifida• myelodysplasia• spinal dysraphism• spinal rachischisis• myelocele

• meningocele

MENINGOCOELE – the spine malform contains only protective covering (meninges) of spinal cord

SPINA BIFIDA OCCULTA: one or more of the bony bodies in spine are incompletely hardened, but there is no abn of the spinal cord

CAUSES & SYMPTOMS

Spina bifida• An isolated abn in the company of other

Malform

• As an isolated abn it is caused by the combination of : genetic factors

environ influences

• The specific genes & environ influences - not completely known

• An insuff of Folic Acid• Mutations in genes involving metab of folic

acid are believed to be signf genetic risk factors

3-5%- Recurrence risk after the birth of infant with isolated spina bifida

Specific environ insults :• Maternal DM• Prenatal exposure to certain anti-

convulsant drugs

• 75% of abn -in the lower back (lumbar) region

• Rarely- the spinal cord malform occur internally: with connection to the GIT

COMPLICATIONS:

• Nerves BELOW the level of the abnorm dev in a faulty manner & fail to function= paralysis & loss of sensation: lumbar

• bowel and bladder: have inadeq nerve

connections=inability to control bowel and bladder function

HYDROCEPHALY• accum of excess fluid in the four

cavities of the brain - At least 1: 7 cases dev • Chiari II malform- the lower part of

the brain is crowded & forced into the upper part of the spinal cavity

PRENATAL DIAGNOSIS

• UTZ after 12-14 wks AOG• Testing mother's blood – level of alpha-

fetoprotein at 16 wks AOG

- If the spine malform is not skin covered, AFP from the fetus' circ leak to the surrounding amn fluid small portion of which is absorbed in mother‘s bld

DIAGNOSIS : P.E. • Paralysis below the level of the abn + fluid

on brain (hydrocephaly)

• Spine abn: cong

scoliosis & kyphosis or soft tissue tumors overlying the spine are NOT likely to have these accompanying findings

TREATMENT• Surgical & Medical mgt improved the

survival & function of infants with spina bifida

• Initial surgery – 1st days of life, provide protection against injury & infection

• Subseq surgery - necess to protect vs excessive curvature of the spine, & with hydrocephaly- place a mechanical shunt to decr the pressure & amt of CSF in the cavities of the brain

• Weakness or paralysis below the level of the spine abn - children will require PT bracing & ortho assist to enable them to walk

• Periodic UB catheter, surgical diversion of urine, and antibiotics - used to protect urinary function

• INIENCEPHALY Slight variation of neural tube defect

• Lack of proper formation of occ bones with short neck & defect of the upper cord

• Head tilted back

• Fetus from a termination of pregnancy via D&C done in the 2nd trimester

• Note the large neural tube defect in the lower back

• ENCEPHALOCELE protruding from the back of the head: merges with the scalp

• extends down to partially cover • a RACHISCHISIS on the back

• retroflexed head: fr INIENCEPHALY

EXENCEPHALY• Cranial vault -not completely

present, but brain is present since it was not entirely exposed to amn fluid

• Very rare • Part of craniofacial clefts ass

with limb-body wall complex, from Early amnion disruption

RACHISCHISIS in a fetus that also has

INIENCEPHALY

Open Neural Tube defects with no skin covering:

• MENINGOCELE-meninges protrude through the defect

• MENINGOMYELOCELE- the defect allows meninges and a portion of spinal cord to protrude through the defect

• Diagnosis: Inc maternal serum alpha-fetoprotein (MSAFP)

MENINGOCOELE

• Spina Bifida: spinal cord

dev NORMALLY

but the meninges protrude

from a spinal opening• Saccular Herniation of meninges & CSF through a bony defect of the spine

Meningomyelocoele

• FOLATE SUPPLEMENT prior to and during pregnancy reduces the incidence of neural tube defects

SYNDROME:• constellation of cong anom that are

pathologically related• caused by a single etio agent that

simultaneously affect different tissues

- viral

- chrom abn

• DISEASE:

when the underlying cause of the condition becomes known

• AGENESIS – complete absence of an organ & its assoc primordium

• APLASIA – absence due failure of developmental anlage to develop

• HYPOPLASIA – incomp devt of an organ w/ decr number of cells

RENAL AGENESIS

RENALHYDRO-GENOSUS

ATRESIA: absence opening of hollow visceral organ

COLONIC ATRESIA w/ add’nal anom:

• Persist cloaca: failure of urogen septum to form

R & L testis cryptorchid & absence of penis

• HYERPLASIA: overdevt of organ with increase in number of cells

• HYPERTROPHY: increase in size • HYPOTROPHY: decrease in size

• DYSPLASIA: abnormal organization of cells

CAUSES: MALFORMATION• GENETIC

- Chromosomal aberration

- Mendelian inheritance• ENVIRONMENTAL

- Maternal/placental infections

- Maternal disease states

- Drugs & chemicals• MULTIFACTORIAL• UKNOWN

GENETIC CAUSES

• "ROCKER BOTTOM" foot with a prominent calcaneus and rounded bottom

• Chrom abn: TRISOMY 18

TRISOMY 18

• 50% - occur with DOWN SYNDROME

• UTZ - "double bubble" sign from duodenal enlargement proximal to the atresia

Duodenal atresia

DOWN SYNDROME

• polydactyly extra fingers/toes

• syndactyly fused fingers

• 3rd & 4th fingers

fused to 1 large

digit; seen w/

triploidy (69 chromosomes)

MENDELIAN INHERITANCE

ectrodactyly

ARTHROGRYPHOSIS ("joint claws") • congenital situation with muscle

contractures present at birth• relatively common• non-progressive symptom that can result fr

uterine constraint, CNS disease, or failure of certain muscles to develop

• Such a stiff fetus freq sustains fractures before or during delivery

• NB w/ fractured rt humerus

HEMOLYTIC DISEASE OF THE NEWBORN

ERYTHROBLASTOSIS FETALIS

• Ab from Rh (-) mother enter the blood stream of her unborn Rh (+) infant damaging the RBCs

• Infant responds by inc RBC prod & sending out immature RBCs that still have nuclei

Normal RBCs, damaged RBCs, & immature RBCs that still contain nuclei

• Anemia - dev in unborn infant when maternal Abs attack the RBC of the fetus

• An IU BT may be

indicated

• The immune system recognizes Ag & produces Ab that destroy substances containing Ag

HYDROPS FETALIShydrops, fetal hydrops, universal edema of the NB

• 1st described by Ballantyne in 1892 • serious condition - abn fluid accum in 2 or >

fetal compartments: ascites, pleural effusion, pericardial effusion & skin edema

• May be assoc with polyhydramnios & placental edema

• Cause: Rhesus (Rh) blood group iso-immunization of the fetus

Epidemiology • 1 : 600 to 1 : 4Kpregnancies

• Varies accdg to population risk of the conditions known

Ex: Thailand

- expected freq hydrops fr homozygous α-thalassemia or Bart hydrops is:

1 : 500–1:1,500pregnancies

ETIOLOGY

Hematological causes• Iso-immunization hemolytic disease of NB• Erythroblastosis fetalis• Rhesus, Kell, ABO and Duffy incompatibility

Other HEMOLYTIC disorders:

• Glucose-6-phosphatase Dehydrogenase

Def(G6PD)• Glucose Phosphateisomerase (GPI)

deficiency• Pyruvate kinase (PK) Def

ETIO: RBC PRODUCTION Disorders

• Congenital dys-erythropoietic anemia• Diamond-Blackfan syndrome• Lethal hereditary spherocytosis• Congenital erythropietic porphyria(Günther's disease)• α-thalassemia

(Bart's hemoglobinopathy)

ETIO: Fetal HEMORRHAGE

• intracranial or intraventricular hge• hepatic laceration• subcapsular hepatic laceration• feto-maternal hemorrhage• twin-to-twin transfusion

ETIO: CARDIAC causes

• Abnormalities of Lt Vent outflow• Aortic valvular stenosis or atresia • Coarctation of the aorta • Truncus arteriosus• Hypoplastic left heart• Endocardial fibroelastosis

ETIO: Abn of Rt Vent

outflow

• Pulmonary Valvular Atresia or insufficiency• Ebstein's anomaly • AV-Malforamation

Hemangiomas

ETIO: NO structural anom

• Sup vena cava or Inf vena cava occlusion• Intrathoracic or abd masses• Disorders of lymph drainage• Arrhythmias• Supravent tachycardia

…ETIO:• Congenital heart block - 66-75% in

pregnancies complicated by maternal collagen disease

• Prenatal closure of the foramen ovale or ductus arteriosus

• Myocarditis • Idiopathic arterial calcification• Hypercalcemia

ETIO:

INFECTIVE causes• Parvovirus B19-slapped cheek syndrome

• PCR testing demonstrated that 20% fetal

hydrops is assoc with:• CMV• SY• HERPES SIMPLEX

…INFECTIVE Causes

• Toxoplasmosis• Hepatitis B• Adenovirus• Coxsackie virus type B• Listeria monocytogenes• Ureaplasma urealyticum

ETIO: • METABOLIC and other causes

-inborn errors of metabolism

• Glycogen-storage disease type IV

• Lysosomal storage dis• Hypothyroidism• Hyperthyroidism

ETIO: CHROMOSOMAL SYNDROMES:

• Trisomies 10,13,15,18• Trisomy 21(Down's syndrome)• Turner's syndrome (45, X)• other autosomal recessive genetic disorders

• ETIO:

• Tumours

Sacrococcygeal Teratoma

PROGNOSIS

Spontaneous remission: CAUSES: • Cardiac arrhythmias• Twin-to-twin transfx syndrome• Cystic hygroma• Parvovirus & CMV infections• Idiopathic ascites or pleural effusions

HYDROPS FETALIS

HYPOSPADIAS

Urinary tract opening or urethral meatus opens the underside of the penis or on the perineum

ETIOLOGY

• Abnormal Devt of penis • Various problems w/ male hormone

action• Genetic

DIAGNOSIS:

P.E. - urethral opening in a wrong position combined with other symptoms :

• Foreskin incompletely dev resulting in a dorsal hood (tip of the penis exposed)

• penis curvature (chordee)• undescended tested

Untreated HYPOSPADIAS

• Abn direction of urine flow• Abn appearance of penis• Infertility • Inability of sexual intercourse

Treatment

SURGERY - create a normal straight penis with a urinary channel - tip of the head

• If the opening is proximal, treatment with ♂ hormone TESTOSTERONE prior to surgery recommended

• Hypospadias located within or near the scrotum should have a voiding cystogram to R/O add’l urinary tract anomalies

• Recommended age of surg repair:

between 4-12 mo.

- size of the penis

- slow rate of growth of

the penis

• Children should not be circumcised: foreskin is essential in repair surgery

PROGNOSIS- Post repair the penis - functions normally- Very few children experience post-op

complications:

wound infections

unexpected opening near the repair site

BLADDER EXTROPHY

GASTROSCHISIS

CLEFT LIP

DIAPHRAGMATIC HERNIA

CLUB FOOT

HYDROCEPHALUS

• CSF collects in the cranium > vent to dilate

• At birth or early adulthood

• Causes: brain tumors, infection, trauma, or devt’l anom

PYLORIC STENOSIS

TRACHEOESOPHAGEAL FISTULA

TRISOMY 13

TURNER SYNDROME

PERINATAL INFECTION

PRIMARY ROUTES:1. Trans-cervically –

Ascending

- Herpes Simplex II

- inhalation of amniotic fluid

pneumonia

sepsis

most common sequelae

meningitis

2. TRANSPLACENTALLY – Hematologic via the chorionic villi

• PARASITIC• VIRAL HIV Parvovirus B19 – 5th disease• BACTERIA Listeria Treponema • TORCH INFECTIONS

CONGENITAL SYPHILLIS

early evidence of infection: bullae and vesicular rash

Early evidence: osteochondritis of femur & tibia

later evidence saddle nose

Later evidence - Hutchinson's teeth

Later evidence saber shins

PRIMARY SYSECONDARY SY

TERTIARY SY

TERTIARY SY – trophic degeneration

CONGENITAL SYPHILIS • granulomatous process : "gumma“ • Gumma- located in the heart of a fetus • Syphilis acquired IU in the 3rd trimester.

Spirochetes - T. pallidum, the causative agent

RUBELLA

CONGENITAL RUBELLA SYNDROME

• Rubellacause: Togavirus genus Rubivirus• Child: Few/no symptoms

Adults:1-5 day prodrome

LG fever, headache,

malaise, coryza, &

conjunctivitis• Arthralgia/arthritis: 70%adult ♀

1st trim- CRS can cause• Abortions• Miscarriages• Stillbirths• Severe birth defects

The most common CRS Congenital defects are:

• Cataracts• Heart disease• Sensorineural deafness• Mental retardation

HERPES VIRUS

• HSV-type 1:

oral herpes

fever

blisters: mouth/ face

• HSV-type2: Genital Herpes

Both viral types can:

• Inactive/'silent‘: no symptom• cause 'outbreaks' of blisters and ulcers • People can remain infected for life after the

1st episode

TRANSMISSION: Direct contact Sexual contact Anal / Oral / Vaginal sex Kissing Skin-to-skin contact

GENITAL HERPES• transmitted with or without sores or

other symptoms• transmitted by people who do not

realize infection can be passed on even when there are no symptoms

• transmitted by people unaware they are infected

HSV-2 

• Mild to no symptoms• Recurrent painful genital ulcers • Severe with suppressed immune

systems

• Severe genital herpes - psychological & emotional  stress

• Pregnants- fatal infections in infants• C/S delivery -  with active genital

herpes  

EARLY SYMPTOMS : burning sensation in the genitals

flu-like symptoms lower back pain painful urination

Small red bumps – in genital area after initial symptoms > painful blisters: crust over > scab > Heal

DIAGNOSIS/TESTING• Tzanck smear - scrapings from lesions >

stained > examined under microscope

CYTOMEGALOVIRUS• Cause: DNA, ether sensitive virus of the herpes

family• Occurs worldwide • Transmission: HUMAN CONTACT – harbors

infection for mos. or yrs.• About 4 / 5 people > 35 y/o - been infected with

CMV in childhood or early adulthood• Most cases - mild

CMV – pregnancy hazardous to the fetus:• brain damage• neonatal illness• other birth defects• stillbirth

CMV found in:• Blood / breast milk / cervical secretions• Feces / saliva / semen / urine/ vaginal

secretions

RISK GROUPS :

Immunodeficient patients • AIDS patients • Who received transplanted organs• those receiving immunosuppressives - dev

pneumonia / other secondary infections• Recipients of BT from donors with + CMV Abs

• CMV - spread through the body in lymphocytes or monos to the lungs, liver, and CNS where it produces inflammatory reactions

• self-limiting

CYTOMEGALOVIRUS

“owl-eye”

• Tubular epithelium of fetal kidney - many large violet INCs

• Inclusions may appear in the urine

NEONATAL RESPIRATORY DISTRESS SYNDROME

• Cause: inadeq prod surfactant• Surfactant - prod by type II pneumocytes with

property of decreasing surface tension• Alveolar surfactant - prod after 30 wks AOG

• Inadeq surfactant - causes air sacs to collapse on expiration & greatly increasethe energy req for breathing

• Interstitial edema makes the lung even less compliant – leads to O2 & retention of CO2

• The immature lungs: cannot retain air• the air spaces empty completely and collapse

after the 1st exhalation • Plasma leaks out of the lung tissue and coats

the air spaces with a pink coating that is glassy or hyaline in appearance

RISK FACTORS

• Premature delivery• C/S without maternal labor• Male infants• Hypothermia• Perinatal asphyxia• Maternal DM• Multiple pregnancy• Family history of RDS

PRESENTATION

preterm delivery - with RD: • tachypnea & expiratory grunting• subcostal and intercostal retractions• diminished breath sounds• cyanosis • nasal flaring & fatigue• apnea and hypoxia

SUDDEN INFANT DEATH SYNDROME

• SIDS is the unexpected, sudden death of a child under age 1 in which an autopsy does not show an explainable cause of death.

Causes

• Unknown• Problems w/ sleep arousal • Inability to sense a build-up of CO2 in

the blood

• occur w/o any warning or symptoms when the infant sleeping

• SIDS is most likely to occur betwn 2 - 4 mos & 90% occur by 6 mos

• occurs more often wet months, with the peak in January

Factors: risk of SIDS

• Babies who sleep on their stomachs

• Babies who are around cigarette smoke while in the womb or after being born

• Babies who sleep in the same bed as their parents

• Babies who have soft bedding in the crib

• Multiple birth babies (being a twin, triplet, etc.)

• Premature babies

• Babies who have a brother or sister who had SIDS

• Mothers who smoke or use illegal drugs • Teen mothers • Short time period between pregnancies • Late or no prenatal care • Situations of poverty

Symptoms• no symptoms• Babies who die of SIDS do not appear to

suffer or

struggle

Exams and Tests• Autopsy - not able to confirm a cause of

death

NEOPLASM

HEMANGIOMA

• Beneath the skin surface are many dilated vascular channels filled with many red blood cells

LYMPHANGIOMA

There is a large mass involving the left upper arm and left chest of this fetus.

• Large lymphatic spaces lined by a thin endothelium • Adjacent stroma w/ lymphoid nodules• Tend to involve head, neck, & chest

• Enlarged lymphatic spaces lined by a thin endothelium – HPO

• Poorly circumscribed & extend widely to surrounding soft tissues

• surgical removal difficult

FIBROMATOSIS

Fibromatoses:

Rare soft tissue disease characterized by fibroblastic proliferation

CLASSIFICATION

• Fibroblastic fibromatoses

• Desmoid Fibromatosis

(desmoid tumor, aggressive fibromatosis)

• Fibromatosis colli

• ….Classification

• Digital infantile fibromatosis

• Aponeurotic fibromatosis plantar fibromatosispalmar fibromatosispenile fibromatosis

…Classification:

• Hereditary gingival fibromatosis (idiopathic gingival fibromatosis)

• Lipofibromatosis

….. Classification:

• Myofibroblastic fibromatoses (myofibromatoses)

• Infantile myofibromatosis

(infantile myofibroma)

According to the LOCALIZATION

 • Superficial

• Deep

• A 45 days old female infant was brought to the hospital with swelling in the right thigh

Noticed swelling - 11 days old, No hx fever, pain / birth trauma, Swelling diffuse from lower end of femur > mid shaft, Margins indistinct but well defined on palpation, Temp normal, No tenderness, Shape fusiform, firm hard in consistency, Non-mobile, overlying skin & surr muscles - free

• LNs in drainage area - not palpable, Distal neuro-vascular status - N° x-ray 11 days old did not show any abnormality

On the 45th day of life, - acircumferential overgrowth of radio opaque tissue which covered the normal bone like a shell. Cortices of underlying bone were intact

FNAC and Tissue Biopsy - CMF suggestive of fibromatosis

TERATOMA

Large nasopharyngeal teratoma that is protruding from the oral cavity

Benign3 embryologic germ layers : Skin (ECTODERM) Cartilage (MESODERM) Colonic gland (ENDODERM)

CYSTIC FIBROSIS : PANCREAS • Ducts - dilated &plugged w/ eosinophilic mucus• Acini of exocrine glands - atrophic & replaced by

fibrous tissue

MALIGNANT TUMORS

WILM’S TUMOR

• Lobulated tan-white mass• Manifests as an abd mass • Most common 1° renal tumor of childhood• 90% of Wilm’s tumors are diagnosed during the 1st 6 yrs (2-5) • 25% of cases are assc with HPN

• Resembles primi nephrogenic zone of fetal kidney, w/ primitive glomeruloid struct & cellular stroma

• Assc mutations involv WT1 tumor suppressor gene

chrom 11• Excellent prognosis & >80% cure rate

• WT-1 complex ( formerly WAGR):

Wilms' tumor

Aniridia (no iris)

Growth Retardation

NEUROBLASTOMA

• Most common tumor diagnosed < 1 y/o

• 25-35% arise from adrenal medulla

• 2nd most common location: paravertebral region of the posterior mediastinum

• In-situ neuroblastomas – 40x > overt

• Prognosis: depends on the histologic variations, staging & cytogenetic characteristics

• Gross: soft, gray, brain-like, necrosis, hges, cystic softening, calcification

• “Small round blue cell" tumor• Small primitive-appearing cells with dark nuclei, scant

cytoplasm, poorly defined cell borders in solid sheets• Homer-Wright pseudorosettes

STAGING:NEUROBLASTOMA

Stage 1 Tumor confined to the organ of origin

Stage 2 Tumor extends in continuity to beyond organ of Origin but does NOT cross the midline. Ipsilateral LN may or may not be affected

Stage 3 Extends beyond the midline, Ipsilateral LN may or may not be affected

Stage 4 Metastasis to the viscera, Distal LN, and skeleton

Stage 4-S Small adrenal tumors & extensive disease infiltrating the liver, skin, bone marrow without evidence of bony destruction

RHABDOMYOSARCOMA

• RARE • most common- 1st decade• Skeletal muscle derivation • Embryonal rhabdomyosarc• A variant seen in the genital tract -SARCOMA

BOTRYOIDES• Alveolar variant • Head and Neck & the GUT

• Very cellular, esp around blood vessels• Hypercellular foci alternate with areas of myxoid

or edematous change foci of necrosis

• Tumor cells: small & vary in shape fr round to oval to spindle, occ bizarre forms w/ more abundant, brightly acidophilic cytoplasm, Primitive round blue cells “Rhabdomyoblasts” in nests with spaces & surrounded by fibrous stroma.

RETINOBLASTOMA • Flexner-Wintersteiner Rosettes • " Differentiated structures photoreceptor-

linked "

THANK YOU FORYOUR

ATTENTION

•