Ap 50 10-22 1 diseases of infancy and childhood

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Ap 50 10-22 1 diseases of infancy and childhood

  1. 1. Disease of Infancy and Childhood
  2. 2. Diseases of infancy and childhood Terminology -Neonatal peroid: first 4 wks. Early: first 7 days,Late: after 7 days -Infancy : 1 yr. -Early childhood: 1-4 yr. -Late childhood : 5-14 yr. -Newborn : 24 hr. -Perinatal death = neonatal death+fetal death
  3. 3. Body weight and gestational age • Preterm : 37 wk. • Posterm : 42 wk. • AGA: BW ( 10-90 Percentile ) • SGA: BW ( < 10 Percentile ) • LGA: BW ( > 90 Percentile )
  4. 4. CAUSE OF DEATH
  5. 5. Intrauterine growth retardation (IUGR) Etiology : Unknown : Fetal – Chomosome abn ( tripoid, trisomy 18,17, 21, other ) , congenital anomaly,TORCH : Placenta –UVP anomaly, mosacism(gene mutate in zygote:trisomy 7 ) : Maternal –Vascular( HT), narcotic, ALG, smoking, drug, malnutrition.
  6. 6. Immaturity of organs Lung : (26-32 wk) alveolar epi. type I– II respiratory distress syndrome ( RDS ) Kidney : premature glomeruli Brain : No gyri, sulci --- def. of myelin – eff. control temp. Liver : Extra med. ----transcient phy. jaundice
  7. 7. APGAR SCORE Method for evaluate phy. condition --- survival Score at 5 min (0-1) ---- death 50% 4 ---- death 20% >7 ---- death 0 %
  8. 8. Evaluation of new born
  9. 9. Stillbirth • No sign of life(> 20 wk) • DFIU,intrpartum death (DR= 0.55-1.93LA) • Etiology :chr.abn, IUGR,maternal, perinatal infection, immuno dis., intrapartum hem, postterm
  10. 10. Birth injuried : Clavicle Fx ,facial N , brachial plex ,intraclanial inj. humural Fx. Birth injuries of head 1.Intracranial hemorrhage :most common important birth injury -excessive mold skull --- subdural,subarachnoid. intraventricle hem. ---- ICP --- brain herniation ---- vital med. center 2. Caput succedaneum ---- fluid in soft tiss. of scalp , Cephalhematoma ---- subperiosteum hem. of scalp , 25% skull fracture
  11. 11. Definitions • Malformations; morpho. def of organs--- result abn. develop Dysplasia; abn. organized cells in tissue Deformations; abn form ,shape, position of body by mechanic. Disruptions; defect of organs by ext. breakdown Sequences: pattern anomaly from single known
  12. 12. Cause of con genital mal
  13. 13. Definitions (continues) • Syndrome: multiple anomalies,not representing sequence from single agent ( viral or chromosome abnormal ) Association: non random occur in several defect ,not seqeunces and syndrome
  14. 14. Descriptive terms • Agenesis: complete absence of organ • Aplasia: absence of organ due to failure del. • Atresia: absence of opening hallow visceral organ • Hypoplasia: under del. of organ, decrease No. cells • Hyperplasia: over del. of organ, increase No. cells • Hypotrophy: decrease in size of cells • Hypertrophy: increase in size of cells.
  15. 15. Descriptive terms (continue) • Dysraphic: failure to fuse: e.g. spinal bifida • Involutional failure: persist emb.stru. e.g. thyroglossal duct cyst • Division failure: incomplete cleave tissue e.g. syndactyly • Ectopia or heterotopia; organ outside normal site • Dystopia: retention of organ at site during development
  16. 16. Figure 11-7
  17. 17. Cause of malformations Genetic cause: karyotypic aberration( 10-15 %) birth life e.g. trisomy 21. Klinefelter syn , Turner syn, trisomy 13 (Patau syndrome) : single gene mutation e.g. polydactyly :mutlifactorial inheritance Environmental cause: viruses :esp rubella, CMV : drugs and chemical e.g. alcohol : radiation Multifactorial causes
  18. 18. Mechanism of malformations Timing perinatal mal: -Embryonic period (organogenesis) 9 wk. -Early in 3 wk may normal or abortion -Between third and ninth wk (4-5 wk) -Fetal period :growth and maturation of organ Teratogens: -effect cell pro.,migration and differentiation e.g.anticonvulsant drug --- dediff. mesenchymal tissue – cleft palate Morphogenic gene: Hox gene
  19. 19. Perinatal infection Transcervical(ascending) infection -bacteria, virus ( herpes simplex II )— Intrauterine pneumnia,sepsis,meningitis. Transplacenta(hematologic) infection - Virus: e.g. TORCH : hepatosplenomegaly, hem.anemia, pneumonia, myocarditis, vesicular skin : MD, cataract, CHD, bone defect : Parvovirus B 19 : replication in RBC (intra nuclear inclusion) ---- abortion, stillbirth, HF. -Bacteria : Group B strep: most common early sepsis :most common bact. meningitis : Listeria and candida : late sepsis
  20. 20. parvovirus
  21. 21. Respiratory distress • HMD , sedation , brain inj , AFA , IUA • HMD: preterm ,term with DM , C/S : 30 min after birth ---tachypnea -- cyanosis --- ground glass x-ray : 60% less than 28 wk, 15-20% 32-36 wk. Gross: Airless+ solid Micro: atelectasis+ overdistend alveoli+pink membrane on air space Sequelae : RLFP,fibrosis BPD , IVH, NEC
  22. 22. Fig11-10
  23. 23. Meconium aspiration syndrome (MAS) -Asphyxia --- abn. rep.motion---amniotic fluid in air space - Micro: meconium( desquamate squamous cells, bile pigment, lanugo hair)
  24. 24. Hydrop fetalis subcutaneous edema+ effusion in pericardial, peritoneum, pleural cavity. -Mech: anemia + decrease protein---decrease intravacular pressure ----- leak of fluid -Cause : immune ---erythroblastosis fetalis : nonimmune > 90%
  25. 25. Fig 11-12
  26. 26. Table 11-5
  27. 27. Inborn errors of metabolism - Phenylketonuria : homozygote AR --- lack phenylalanine hydroxylase – PKU--- mental retard - Galactosemia : homozygote AR --- lack of galactokinase---- galactitol -----MD, cataract, hepatosplenomegaly, failure to thrive, diarrhea - Cystic fibrosis: defect Cl transport in epithelium cells by cystic fibrosis gene (chr 7) --- exocrine in respiratory, GI tract, reproductive organ : poor weight gain, malabsorption, pulmonary problem
  28. 28. Sudden infant death syndrome(SIDS) 90% SIDS less than 6 m,unexplained by autopsy, heterogeneous entity,sleep at night ,healthy Micro: anoxic change : VH, gliosis, pulmonary congestion , petechial hem. at pleura etc.
  29. 29. Neoplasm most benign, 2% malignant Hemangioma :most common tumors in infancy :skin, face,scalp Gross: red blue mass Micro: numerous vessels with unremarked endothelium : Spontaneous regress :asso hereditary e.g. von Hippel-Lindau dis. Lymphangioma : skin ,neck,axilla,mediastenal,retro. :micro :lymph vessels in cyst or space :increase in size after birth
  30. 30. Teratoma : 2 yr or adolescence,sacrococcygeal Gonad,medias, retroperitoneum,head neck Sacrococcygeal teratoma : 1:20000-40000 : M/F=4:1 -10% asso congen.def hind gut,mid line defects - Gross: cystic mass with mature tissue - Micro : meso,endo and ectoderm. - 75% mature contains mature tissue -12% immature contains mature and immature tissue - 12.5 % mixed germ cell tumor
  31. 31. Malignant tumor in infancy abn.del and tumor induction familial or genetic aberrations : regress spon. or cytodiff. , improve survival and cure. Common : hemato malignancy. , nervous system, soft tissue,bone, kidney.
  32. 32. Neuroblastoma Vs ganglioneuroma Most common childhood solid mal. tumor Most common diag. less than 1 yr. Location: 25-35% adr. med ,symp chain (paravertebral post.mediastinum or lower abdomen) Gross: minute nodule to huge mass Micro: small blue round cells with neurofibrillary (Homer-Wright) diff. to ganglia cells(psuedorosettes) --- ganglioneuroma , ganglioneuroblastoma met to blood stream --- liver, lung, bone
  33. 33. Clinical staging • Stage 1 : confined in organ origin • Stage 2: extened beyond organ, not cross mid line • Stage 3: beyond midline • Stage 4: metastasis to viscera, distal LN, soft tiss.. skeleton Stage 5s (special) :small adr. tumor to liver,skin, bone marrow without bony destruction
  34. 34. Clinical course Most < 2 yr , fever , abdominal mass,weight loss, proptosis Prognosis ; < 1 yr--- excellent prognosis (no related stage) < 1 yr.stage 1,2 ---- 95-98 % 5 yr. survival Stage 5 s ---- 80% 5 yr. survival Chromsome 1 deletion ---- worse prognosis 25-50% asso deletion of q chr.14 ---agg.behavior
  35. 35. Groups of prognosis First gr : < 1 yr, hyperploid, high Trk A, no n myc oncogene,adsence of deletion chr.1p, stage 1,2,5 s --- cure rate 90% Second gr: older , more stage Third gr: worse prognosis , 1-5 yr, advance stage, n myc oncogene ,diploid, deletion chr. 1p ,mini Trk A ----- cure rate 5%
  36. 36. Micro homerise roset
  37. 37. Fluorescence in situ hybridization for N myc
  38. 38. Wlim’s tumor(nephroblastoma) - Most common childhood solid malignant tumor - Incidence 2-5 yr. - Survival rate > 90% - Asso three gr. malformation; aberration in chr 11p - 1) WARD syndrome : wilm’s ,aniridia,MR , genital anomaly,deletion of 11p13 (WT-1 locus) - 2) Denys-Drash syndrome; gonodal dys.(male psuedo hermaphroditism,nephropathy,wilm’s , missense mutation of 11p13 (WT-1 locus) 3) Beckwith-Widerman syndrome: enlarge organ, hemihypertrophy renal medullay cyst, wilm’s, adr cytomegaly , 11p15 (WT-2 locus)
  39. 39. Gross :large solid, well circum mass(10% bilat or multicentric) ,focal hem,cystic degeneration and necrosis Micro: triphasic combination of 1.Blastemal com: primitive small blue cell. predominate ------ stage 3 or 5 2.Stromal com: fibrocytic or myxoid stroma 3. Epithelium com: abortive tubules and glomeruli , predomonate----- stage 1 5% of tumor analplasia (abn mitoses, pleo,hyper)---- resistent Tx

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