Diseases Of Infancy And Childhood

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)

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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

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sudden death of infant under 1 yr unexplained even after thorough investigation = Idiopathic Morphology: gliosis in brain stem but subtle

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SIDS

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

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Hi cellular proliferation markers i.e. Ki-67 5 yr survival rate