1. Disease of Infancy and Childhood

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. 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. CAUSE OF DEATH

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. 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

8. APGAR SCORE
Method for evaluate phy. condition --- survival
Score at 5 min (0-1) ---- death 50%
4 ---- death 20%
>7 ---- death 0 %

9. Evaluation of new born

10. 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

11. 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

12. 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

15. Cause of con genital mal

16. 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

17. 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.

18. 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

19. Figure 11-7

20. 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

21. 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

23. 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

24. parvovirus

25. 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

26. Fig11-10

28. Meconium aspiration syndrome (MAS)
-Asphyxia --- abn. rep.motion---amniotic fluid
in air space
- Micro: meconium( desquamate squamous cells,
bile pigment, lanugo hair)

29. 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%

30. Fig 11-12

31. Table 11-5

33. 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

37. 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.

39. 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

41. 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

43. 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.

46. 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

47. 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

48. 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

49. 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%

51. Micro homerise roset

52. Fluorescence in situ hybridization for N myc

53. 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)

54. 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