Infancy And Childhood Diseases PDF

 Congenital Anomalies  Prematurity and Fetal Growth Restrictions  Perinatal Infections  Fetal Hydrops  Inborn Errors of Metabolism and Other Genetic Disorders  SIDS  Tumors and Tumor-L...

 Congenital Anomalies  Prematurity and Fetal Growth Restrictions  Perinatal Infections  Fetal Hydrops  Inborn Errors of Metabolism and Other Genetic Disorders  SIDS  Tumors and Tumor-Like Conditions Anatomic defects that are present at birth, CONGENITAL  some may not become clinically apparent until years later ANOMALIES  May or may not be genetic in nature  Less severe anomalies that do not necessarily lead to stillbirths  primary errors of  secondary destruction morphogenesis of a previously normal  intrinsic abnormal organ or body region developmental process during development  single gene,  extrinsic disturbance in chromosomal defect, morphogenesis, or multifactorial  environmental agents  ex. heart defects,  not heritable anencephaly or  ex. amniotic bands multiple organ defects MALFORMATIONS DISRUPTIONS Polydactyly Cleft lip and palate  2% of newborn infants  cascade of anomalies  extrinsic disturbance triggered by one initiating  localized or generalized aberration compression of the fetus by  constellation of anomalies abnormal biomechanical may be explained by a force single, localized aberration  35th – 38th weeks AOG AMNIOTIC BANDS  uterine constraint in organ development  Maternal: 1st Pregnancy, (malformation, disruption, PLACENTA small uterus, malformed or deformation) 2o effects uterus, myomas  ex. Oligohydramnios or  Fetal/placental: Potter Sequence oligohydramnios, multiple fetuses, abnormal fetal presentation DEFORMATIONS SEQUENCE DISRUPTION  Uteroplacental insufficiency Bicornuate uterus Oligohydramnios MALFORMATION SYNDROME OTHERS  constellation of  AGENESIS ◦ complete absence of an organ and anomalies believed to be its primordium pathologically related but  APLASIA cannot be explained by a ◦ absence of an organ due to failure of growth of the existing single, localized, primordium initiating defect  HYPOPLASIA/HYPERPLASIA ◦ incomplete development or  most often caused by a decreased/increased size due to single etiologic agent, decrease/increase number of cells HYPOTROPHY/HYPERTROPHY such as a viral infection  ◦ Decreased/increased size due to or specific chromosomal decreased/increase size of cells abnormality  ATRESIA absence of an opening  DYSPLASIA ◦ abnormal organization of cells   TIMING  Embryonic Period (1st 9 Weeks) GENETIC ◦ 1st 3 Weeks (Early) Single Gene Mutations (Mendelian Disorders)  Death, Abortion or Recovery Chromosomal Syndromes (Down, Klinefelter, Turner Syndromes) ◦ 3rd to 9th Week ENVIRONMENTAL  Organs are crafted from germ cells (Peak Maternal/Placental Infections: Viral Infections (Rubella, Syphilis, HIV) sensitivity – between 4th & 5th wk) Maternal Disease States: DM, PKU, Endocrinopathies  Fetal Period (>9Wk to birth) Drugs (thalidomide, alcohol, nicotine, anticonvulsants, warfarin, retinoic acid) ◦ Further growth and maturation Irradiation ◦ reduced susceptibility MULTIFACTORIAL ◦ Prone to growth retardation or injury to formed interaction of environmental influences with two or more genes of small effect organs (cleft lip, cleft palate and neural tube defects)  Cyclopamine ◦ Corn lily ◦ Inhibits Hedgehog signal  Valproic Acid ◦ anti-epileptic, teratogen ◦ disrupts HOX expression ◦ Valproic Acid Embryopathy  limbs, vertebrae and craniofacial structures  All-trans-retinoic acid ◦ Vitamin A for normal development and diff’n ◦ ExcessRetinoic Acid Embryopathy ◦ CNS, cardiac, and craniofacial defects (cleft lip and cleft palate)  PREMATURITY AND FETAL GROWTH RESTRICTIONS MAJOR RISK FACTORS  PPROM (Preterm PROM - before 37th Wk) ◦ maternal smoking ◦ low socioeconomic status, and poor maternal nutrition ◦ 2nd trimester is POOR  Intrauterine Infections ◦ Organisms: Ureaplasma urealyticum, Mycoplasma hominis, Gardnerella vaginalis, Trichomonas, Neisseria gonorrhea, Chlamydia, Malarial organisms and HIV ◦ TLRs engagement  deregulated prostaglandin synthesis  uterine smooth muscle contractions ABNORMALITIES Maternal Decreased blood supply Fetal Intrinsically reduce growth potential of the fetus triploidy, trisomy 18, variety of deletions and translocations, trisomy 21, trisomy 13 Infections: TORCH – Toxoplasmosis, Rubella, CMV, Herpesvirus & others Symmetric Placental uteroplacental insufficiency umbilical-placental vascular anomalies Placental abruption, placenta previa, placental thrombosis and infarction, chronic villitis of unknown etiology, placental infection, or multiple gestations Asymmetric   Greater Risk for: ◦ Major handicap  Causes: ◦ Excessive sedation of the mother ◦ Cerebral dysfunction ◦ Fetal head injury during delivery ◦ Learning disability ◦ Aspiration of blood or amniotic fluid ◦ Hearing and visual impairment ◦ Intrauterine hypoxia due to coiling of the umbilical cord about the neck ◦ RDS/Hyaline membrane disease (HMD) FUNDAMENTAL DEFECT: meddean.luc.edu SP-B and SP-C – SFTPB/SFTPC Secondary: Soft Thoracic Wall Protein-rich, fibrin-rich exudation into the alveolar spaces with the formation of hyaline membranes. CORTISOL, LABOR  Increase SP INSULIN  Decrease SP LIVER like Poorly developed alveoli Eosinophilic hyaline membrane (Fibrin, cell debris)  Preterm, AGA, male, maternal DM, CS  Prophylactic exogenous surfactant delivery  Ventilator-administered oxygen:  (Birth) resuscitation  normal color ◦ Retrolental Fibroplasia/ROP  Phase I: Hyperoxic/O2 treatment, dec. VEGF difficulty breathing  cyanosis  Phase II: Hypoxic/room air, rebound of VEGF  Retinal  Auscultation: Fine Rales lov-health.blogspot.com Neovascularization ◦ Bronchopulmonary Dysplasia  Decrease alveolar septation and dysmorphic capillary  Excellent recovery if configuration neonate survives first 3-4d  Complications: PDA, Intraventricular hemorrhage, and NEC GROUND-GLASS PICTURE Pneumatosis Intestinalis  Incidence of the disease being inversely GROSS: proportional to the gestational age; enteral TERMINAL ILEUM, CECUM, & feeding RIGHT COLON (Typically but may  Uncertain pathogenesis; multifactorial involve any part of SI or LI) DISTENDED SEGMENT, Friable,  Platelet activating factorPAF Gangrenous with or without  Inflammationnecrosismucosal barrier PERFORATION & PERITONITIS breakdownbacterial entry MICRO:  Bloody stools, abdominal distention, and COAGULATION NECROSIS, Ulceration, circulatory collapse Bacterial Colonization Submucosal Gas Bubbles  Abdominal X-ray: pneumatosis intestinalis  PERINATAL Transplacental Transcervical/ / INFECTIONS ASCENDING HEMATOGENO US FETUS  Mostly parasitic (Toxoplasma, Malaria) and viral MOSTLY BACTERIA FEW VIRUSES infections (Hepa B, HIV), few bacterial Passing Parvovirus B19 – Fifth Disease/ Erythema Inhalation of  through infected infectiosum infected birth amniotic fluid canal  TORCH - fever, encephalitis, chorioretinitis, Preterm Delivery Perinatal hepatosplenomegaly, pneumonitis, rupture of amniotic sac Infection myocarditis, hemolytic anemia, and vesicular or Release of prostaglandins from neutrophils hemorrhagic skin lesions Pneumonia, sepsis, meningitis  EARLY ONSET ◦ within first 7 days of life FETAL HYDROPS ◦ commonly acquired at or shortly before birth ◦ sepsis, pneumonia or meningitis within 4-5 days of life ◦ Group B Streptococcus – most common  LATE ONSET ◦ 7 days to 3 months ◦ Listeria monocytogenes, Candida albicans  Accumulation of edema fluid in the fetus  Hemolytic disease caused by blood group Ag during intrauterine growth incompatibility between mother and fetus  Immune vs Nonimmune  Immunization of the mother by blood group Ag on fetal red cells and the free passage of antibodies from the mother through the placenta to the fetus Blood Type ABO Rh Mother O (with Ab) Rh Neg Fetus A or B (with Ag) Rh Pos (D Ag)  Concurrent ABO incompatibility protects the mother  2 Consequences against Rh immunization ◦ ANEMIA  hypoxic heart and liver injury  The antibody response depends on the dose of  decrease protein synthesis  edema immunizing antigen  cardiac decompensation  edema ◦ JAUNDICE ◦ >1 mL of Rh-positive fetal red cells  Unconjugated Bilirubin  cross BBB  binds lipids in RhIg at 28 weeks of gestation and within 72 hours the brain  kernicterus (enlarged, edematous, yellow cut surfaces)  >20 mg/dL bilirubin to cause neural damage in a term infant  CARDIOVASCULAR DEFECTS  Kernicterus  Hydrops fetalis ◦ congenital malformations ◦ Isolated pleural, peritoneal and post- ◦ arrhythmias nuchal edema  CHROMOSOMAL ANOMALIES  Dysmorphic facies ◦ 45,X karyotype; Trisomies 21 and 18  Fetal anemia pale fetus and placenta  FETAL ANEMIA  Hepatosplenomegaly ◦ Homozygous α-thalassemia  Bone marrow ◦ Parvovirus B19 (infects immature RBC) hyperplasia ◦ Twin-twin transfusion  Extramedullary hematopoiesis ◦ Increased hematopoiesis  immature RBC in  Erythroblastosis fetalis circulation  Erythroblastosis Fetalis ◦ Pale fetus and placenta   Manifestations vary with the severity of the disease ◦ Minimally affected  pallor  hepatosplenomegaly ◦ Most gravely ill:  intense jaundice  generalized edema  neurologic injury  TREATMENT ◦ phototherapy ◦ total exchange transfusion INBORN ERRORS OF  AR, severe deficiency of PAH (98%) METABOLISM AND OTHER GENETIC ◦ 2% due to abnormalities in synthesis or recycling of DISORDERS tetrahydrobiopterin  Normal at birth  Intellectual disability at 6th month  Decreased skin pigmentation, eczema, mousy odor of urine, seizures  AR, disorder of galactose metabolism  accumulation of galactose-1-PO4 ◦ Galactitol, galactonate ◦ liver, lens of the eye, cerebral cortex, spleen, kidneys, heart muscle, and RBC ◦ GALT gene 1 Malignant TUMOR-LIKE   Mostly soft-tissue tumors of mesenchymal origin CONDITIONS  Tumor-like lesions: ◦ Hamartoma ◦ Choristoma/Heterotopia  www.dermaamin.com  Hemangiomas ◦ Most common tumors of infancy ◦ Cavernous vs Capillary ◦ Skin: face and scalp ◦ Enlarge with child-growth or regress ◦ Hereditary D/O  von Hippel Lindau disease  Cerebral cavernous malformation Post-wine stain in an adult CONGENITAL CAPILARY HEMANGIOMA  Fibrous Tumors ◦ Fibromatosis  sparsely cellular (spindle-shaped cells) ◦ Congenital-Infantile Fibrosarcomas  richly cellular  t(12,15) (p13,q25); EVT6-NTRK3 fusion  diagnostic marker  Excellent prognosis  Teratomas ◦ May occurs as:  Benign ( Familial (1-2%, ALK gene)  Sympathetic ganglia, and adrenal medulla (40%, most common)  Neuropil Schwannian stroma Ganglioneuroma Homer-Wright Pseudosette EM: Dense core granules 