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Diseases of infancy and childhood

Intrauterine Growth Retardation


1. Fetal – Congenital defect, genetics, or Infections (TORCHSS)
2. Placental – Insufficient blood supply (single umbilical artery, hemangioma)
3. Maternal – drug use (alcohol etc.), HTN, dilantin, malnutrition

Preterm Babies (less than 37 weeks)


- Organ development: Kidneys (primitive glomeruli), Liver (residual EMH & physio
immature), Brain (relatively smooth, incomplete cell migration & myelination –
impaired homeostasis), lungs (surfactant levels)
- APGAR (performed at 1 & 5 min) – Max 10 evaluates HR, Respiration, muscle tone,
color, & responses.

Malformation = intrinsic abnorm occuring during development i.e congenital hrt drfects
- genetic (trisomy 13,18), environment (TORCHS, Radiation,EtOH), multifactorial, or
idiopathic
- FAS – buildup of acetyladehyde resulting in MR, heart defects, facial abnorm
- Max harm to organogenesis = 2-16 wk gestation
- Lack of Vitamin A (required for retinoic acid) – cardio, genitourinary, lung, eye
- Excess Vit A (acne treatment) – CNS, craniofacial, thymus, heart, & limbs
- T - Toxoplasmosis
- O – Micro cephaly/opthalmia
- R – Rubella (heart conditions ie ventral septal defect)
- C – Cytomegalovirus (cerebral calcifications, chorioretinitis, cateracts, conjunctivitis)
- H – HIV (hepatosplenomegaly>>jaundice has nothing to do with HIV but connects the
things that u see with torches).
- S - Syphillis(Toxoplasmosis, Rubella, CMV, Herpes, HIV, Sphyllis), Listeria
monocytogenes (cabbage), botulism (can food). Microcephaly, Micropthalmia, Cerebral
calcifications, chorioretinitis, cataracts, conjunctivits, Heart disease,
hepatosplenomegaly, & jaundice.
Deformation = alteration of structure due to mechanical constraints i.e. club feet
Disruption = an organ or body region that is abnorn but previously normal i.e. intestinal atresia due
to intrauterine vascular accident
Sequence = constellation of abnormalities 2nd-ary to a single defect i.e. Potters – oligohydramnios –
fetal compression – pulmonary hypoplasia, altered facies, & defects of hand & feet
Syndrome = many abnormalities that can’t be explained by 1 primary defect i.e. Down
Disease = pathologically related symptoms w/ 1 single cause i.e. Neurofibromatosis 1

Hyaline Membrane Disease


- low surfactant – low S.A. & HI surface tension – more E required to expand alveolus for
O2 exchange – hypoxemia & pulmonary hypoperfusion – acidosis & respiratory distress
- Complications: retrolental fibroplasia & bronchopulmonary dysplasia, patent ductus
arteriosus, & intraventricular hemorrhages

Erythroblastosis Fetalis (HDN)


- Blood group incompatibility btwn mother & infant (RH factor & AB baby with O mom)
- Hemolysis of rbc
- 1st exposure: 1st child IgM (can’t cross placenta)
- 2nd exposure: 2nd child – IgG production (X placenta) attack fetal rbc – hemolysis –
increase bilirubin – jaundice & if severe enough kernicterus (CNS – basal ganglia &
cerebellum)
- Treatment: Phototherapy for the jaundice &/or Xchange transfusions
- Prevention: admin human anti-D globulin (RhoGAM) to mother during pregnancy
SIDS
- sudden death of infant under 1 yr
- unexplained even after thorough investigation = Idiopathic
- Morphology: gliosis in brain stem but subtle

Benign Tumors & Tumor-Like Conditions


- Hamartoma = focal outgrowth of mature cellular elements occurring at a site not
normally found.
- Choristoma = microscopic aggregats of normal cells/tissues present in aberrant location
- Hemangioma (MC infant/child) = skin, face, scalp = proliferation of blood vessels
- Sturge-Weber Syndrome = encephalofacial angiomatosis = “port-wine stains”
- Lymphangioma = proliferation of lymphatic channels = neck, axilla, mediastinum & RP
- Sacrococcygeal teratoma (MC-newborn) = germ cell solid tumor usu benign

Malignant Tumors
- Acute Leukemias
- Brain tumors
- Lymphomas
- Neuroblastoma (MC-infants) = 1st site adrenal glands can metastsize to liver, lungs,
bone, & periorbital region
- Group 1: Best Prognosis – hyperdiploid DNA
- Group 2: Intermediate Prognosis – TrkA
- Group 3: Worst Prognosis – Amplification of N-myc (chromosome 1)
- Wilms (Nephroblastoma) – MC-child (2-5 yr)
- Tumor is epithelial elements – anaplasia
- WAGR = Wilms tumore, Aniridia, Genital anom., Mental Retardation
- Deletion c. 11p13, mutation in 2nd WT-1
- Denys-Drash Syndrome = WT1 MAJORITY → Wilms Tumor
- – gonadal dysgenesis, nephropathy
- Beckwith-Wiedemann Syndrome = c.11p15.5 (WT2)
- – gigantism/hemihypertrophy, viceromegaly
General Clinical Symptoms of Wilms: AB pain, hematuria, HTN, intestinal obstruction, ab masses
- Rhabdomyosacrcoma
- Ewing sacro/osteosarcoma

Medulloblastomas - children
- Grows rapidly in cerebellum eventually occluding CSF flow – hydrocephalus
- Extremely cellular, anaplastic, hyperchromatic nuclei, HI N/C
- Hi cellular proliferation markers i.e. Ki-67
- 5 yr survival rate