1. DISEASE OF INFANCY & CHILDHOOD Bernadette R. Espiritu, M.D. FPSP. Anatomic & Clinical Pathologist
2. Neonatal age – 1st 4 weeks Infancy – 1st year Early childhood – 1-4 years Late Childhood – 5-14 years
3. An unborn child or POC with child parts in the 1st 8 wks after conception EMBRYO
4. unborn child / POC with child-parts not just placenta, 8 wks after conception to birth ("all-the-way-out with a beating heart”) FETUS
5. 1st 4 weeks of life birth Most hazardous vulnerable period Transition from IUlife Circulation Resp function take over Maintenance of body temp NEONATE
9. POST-TERM Prolonged pregnancy, Post-dates, Post-maturity pregnancy that lasts > 42 weeks (294 days from the 1st day of LMP) 7 % of all babies - born at 42 wks or later
10. POST-TERM RISK FOR MOTHERS Longer labors & operative delivery (forceps or vacuum-assisted birth) Vaginal trauma - large baby C/S delivery infection & wound complications & postpartum hge
11. RISKS OF FETUS & NB: POST-TERM Placenta begins to age Amniotic fluid vol decrease Large baby Meconium aspiration Hypoglycemia
18. SGA: not grow properly in the uterus organs will have problems
19. SGA CAUSES: 1) FETAL: - reduce growth despite adeq nutrient from mother a. chromosomal disorder b. congenital anomalies c. congenital infections
20. 2) PLACENTAL - 3rd trimester - Uteroplacental insufficiency a. infections b. tumors c. vascular lesions : infarctions
21. 3) MATERNAL - Under nutrition - Narcotic abuse - Alcohol intake - Cigarette smoking - Vascular disease: a. Toxemia b. Chronic c. Hypertension
22. IMMATURITY OF ORGANS LUNGS - 7th month – alveoli begin to differentiate - epithelial lining-cuboidal not suited in effecting transfer of O2 to blood
23. ...Lungs 26th -32nd wks AOG – cuboidal epith > flat type I alveolar epithelial cells & type II cells that contain lamellar bodies
24. TYPE I - flattened plate-like pavement covers 95% (membranous) of the alveolar surface TYPE II : rounded or granular which exhibits surface microvilli & contains osmiophilic lamellar bodies
25. …Type II a. source of pulmonary surfactant b. involved in the repair of the alveolar epithelium after destruction of Type I cells
26. PULMONARY SURFACTANT : “lecithin”phosphatidylcholine contained in a thin film of phospholipid in the glycoprotein–containing cell coat adjacent to the alveolar cell membrane
27. SURFACTANT: IMPORTANCE 1) lowers the surf tension of the alveolar lining & maintain the stability of the alveoli 2) synthesized in type II epithelial cells & stored in the osmiophilic lamellar bodies
28. 3) inadequate surfactant activity play a role in RDS of infants & adults
36. BRAIN Vital brain centrs sufficiently dev Homeostasis not perfect Poor vasomotor control Irreg resp Feeble sweating
37. LIVER Inc size persist EM hematopoiesis Def - bil glucoronyl transferase Def - hydroxylating enzymes Dec- CHON synthetic capacity
38. APGAR SCORE METHOD: evaluating physiologic condition & responsiveness of NB > chance of survival Evaluation at 1 min or at 5 min 10 – best condition
39. …APGAR SCORE 0-1 = 50% Mm in 1st mo. 4 = 20% M in 1st mo. 7 or > = 0% M in 1st mo.
41. BIRTH INJURIES INTRACRANIAL HGE - most common - hge may arise from tears in the dura or rupture of vessels that traverse the brain - subs of the brain may be torn or bruised leading to intraventricular hge into the brain substance
42. EFFECTS OF INTRACRANIAL HGE Sudden increase in ICP Damage to the brain subs Herniation of medulla into the foramen magnum Serious fatal depression of function of vital medullary centers
43. CAPUT SUCCEDANEUM: Edema of the scalp head pressed- the cervix prolonged or difficult delivery after ROM - amniotic sac no longer provides protective cushion for baby's head
44. progressive accumulation - interstitial fluid in the soft tissues of the skull: circ area of edema congestion & swelling assc with PROM or oligohydramnios
45. SYMPTOMS … CAPUT Soft puffy swelling of scalp Swelling may or may not have discoloration Swelling may extend over the midline of the scalp Seen- head presented 1st Assoc w/ inc molding-head
46. PROGNOSIS Complete recovery expected Scalp regain normal contour COMPLICATIONS Jaundice - as the bruise breaks down into bilirubin
47. CEPHALHEMATOMA: Hge under the scalp ("subgaleal hematoma”) No known risks Dark red blood under galea aponeurotica over the cranium fairly common during birth
66. SEQUENCE: pattern of cascade anom(unrelated) classic exam: POTTER OLIGOHYDRAMNIOS SEQUENCE squashed ("Potter's") face and badly bent limbs
67. CAUSES: Oligohydramnios Chronic leakage of amn fluid bec of ROM 2. Uteroplacental insuff resulting fr maternal HPN or toxemia of pregnancy 3. Renal agenesis – fetal urine impt constituent of amniotic fluid
69. ANENCEPHALY Failure of formation of fetal cranial vault Brain not form properly when exposed to amn fluid IUFD-signs of maceration, w/ skin slippage & reddening
72. NEURAL TUBE DEFECT CAUSE: improper embryonic neural tube closure Most minimal defect: SPINA BIFIDA - with failure of vertebral body to completely form, but the defect is not open
74. Spina bifida - serious birth abn where the spinal cord is malformed & lacks its usual protective skeletal and soft tissue coverings May appear in the body midline anywhere from the neck to the buttocks
75. Most severe form- spinalrachischisis: entire spinal canal is open, exposing the spinal cord & nerves More commonly, appears as localized mass - back covered by skin or by the meninges, the three-layered membrane that envelopes the spina cord
76. Spina bifida - readily apparent at birth because of the malformation of the back and PARALYSIS below the level of the abnormality
77. FORMS OF SPINA BIFIDA meningomyelocele myelomeningocele spina bifida aperta open spina bifida myelodysplasia spinal dysraphism spinal rachischisis myelocele meningocele
78. MENINGOCOELE – the spine malform contains only protective covering (meninges) of spinal cord SPINA BIFIDA OCCULTA: one or more of the bony bodies in spine are incompletely hardened, but there is no abn of the spinal cord
79. CAUSES & SYMPTOMS Spina bifida An isolated abn in the company of other Malform As an isolated abn it is caused by the combination of : genetic factors environ influences
80. The specific genes & environ influences - not completely known An insuff of Folic Acid Mutations in genes involving metab of folic acid are believed to be signf genetic risk factors
81. 3-5%- Recurrence risk after the birth of infant with isolated spina bifida Specific environ insults : Maternal DM Prenatal exposure to certain anti- convulsant drugs
82. 75% of abn -in the lower back (lumbar) region Rarely- the spinal cord malform occur internally: with connection to the GIT
83. COMPLICATIONS: Nerves BELOW the level of the abnorm dev in a faulty manner & fail to function= paralysis & loss of sensation: lumbar bowel and bladder: have inadeq nerve connections=inability to control bowel and bladder function
84. HYDROCEPHALY accum of excess fluid in the four cavities of the brain - At least 1: 7 cases dev ChiariII malform- the lower part of the brain is crowded & forced into the upper part of the spinal cavity
85. PRENATALDIAGNOSIS UTZ after 12-14 wks AOG Testing mother's blood – level of alpha-fetoprotein at 16 wks AOG - If the spine malform is not skin covered, AFP from the fetus' circ leak to the surrounding amn fluid small portion of which is absorbed in mother‘s bld
86. DIAGNOSIS: P.E. Paralysis below the level of the abn + fluid on brain (hydrocephaly) Spine abn: cong scoliosis & kyphosis or soft tissue tumors overlying the spine are NOT likely to have these accompanying findings
87. TREATMENT Surgical & Medical mgt improved the survival & function of infants with spina bifida Initial surgery – 1st days of life, provide protection against injury & infection
88. Subseq surgery - necess to protect vs excessive curvature of the spine, & with hydrocephaly- place a mechanical shunt to decr the pressure & amt of CSF in the cavities of the brain
89. Weakness or paralysis below the level of the spine abn - children will require PT bracing & ortho assist to enable them to walk Periodic UB catheter, surgical diversion of urine, and antibiotics - used to protect urinary function
90. INIENCEPHALYSlight variation of neural tube defect Lack of proper formation of occ bones with short neck & defect of the upper cord Head tilted back
91. Fetus from a termination of pregnancy via D&C done in the 2nd trimester Note the large neural tube defect in the lower back
92. ENCEPHALOCELE protruding from the back of the head: merges with the scalp extends down to partially cover a RACHISCHISIS on the back retroflexed head: fr INIENCEPHALY
93. EXENCEPHALY Cranial vault -not completely present, but brain is present since it was not entirely exposed to amn fluid Very rare Part of craniofacial clefts ass with limb-body wall complex, from Early amnion disruption
95. Open Neural Tube defects with no skin covering: MENINGOCELE-meninges protrude through the defect MENINGOMYELOCELE- the defect allows meninges and a portion of spinal cord to protrude through the defect Diagnosis: Inc maternal serum alpha-fetoprotein (MSAFP)
99. SYNDROME: constellation of cong anom that are pathologically related caused by a single etio agent that simultaneously affect different tissues - viral - chromabn
100. DISEASE: when the underlying cause of the condition becomes known
101. AGENESIS – complete absence of an organ & its assoc primordium APLASIA – absence due failure of developmental anlage to develop HYPOPLASIA – incompdevt of an organ w/ decr number of cells
104. ATRESIA: absence opening of hollow visceral organ COLONIC ATRESIA w/ add’nalanom: Persist cloaca: failure of urogenseptum to form R & L testis cryptorchid & absence of penis
105. HYERPLASIA: overdevt of organ with increase in number of cells HYPERTROPHY: increase in size HYPOTROPHY: decrease in size DYSPLASIA: abnormal organization of cells
115. ARTHROGRYPHOSIS("joint claws") congenital situation with muscle contractures present at birth relatively common non-progressive symptom that can result fr uterine constraint, CNS disease, or failure of certain muscles to develop
116. Such a stiff fetus freq sustains fractures before or during delivery NB w/ fractured rthumerus
119. ERYTHROBLASTOSIS FETALIS Ab from Rh (-) mother enter the blood stream of her unborn Rh (+) infant damaging the RBCs Infant responds by inc RBC prod & sending out immature RBCs that still have nuclei
121. Anemia - dev in unborn infant when maternal Abs attack the RBC of the fetus An IU BT may be indicated
122. The immune system recognizes Ag & produces Ab that destroy substances containing Ag
123. HYDROPS FETALIS hydrops, fetal hydrops, universal edema of the NB 1st described by Ballantyne in 1892 serious condition - abn fluid accum in 2 or > fetal compartments: ascites, pleural effusion, pericardial effusion & skin edema
124. May be assoc with polyhydramnios & placental edema Cause: Rhesus (Rh) blood group iso-immunization of the fetus
125. Epidemiology 1 : 600 to 1 : 4Kpregnancies Varies accdg to population risk of the conditions known Ex: Thailand - expected freq hydrops fr homozygous α-thalassemia or Bart hydrops is: 1 : 500–1:1,500pregnancies
126. ETIOLOGY Hematological causes Iso-immunization hemolytic disease of NB Erythroblastosis fetalis Rhesus, Kell, ABO and Duffy incompatibility
130. ETIO: CARDIAC causes Abnormalities of Lt Vent outflow Aortic valvularstenosis or atresia Coarctation of the aorta Truncus arteriosus Hypoplastic left heart Endocardialfibroelastosis
131.
132. …ETIO: Congenital heart block - 66-75% in pregnancies complicated by maternal collagen disease Prenatal closure of the foramen ovale or ductus arteriosus Myocarditis Idiopathic arterial calcification Hypercalcemia
133. ETIO: INFECTIVE causes Parvovirus B19-slapped cheek syndrome PCR testing demonstrated that 20% fetal hydrops is assoc with: CMV SY HERPES SIMPLEX
135. ETIO: METABOLICand other causes -inborn errors of metabolism Glycogen-storage disease type IV Lysosomal storage dis Hypothyroidism Hyperthyroidism
142. DIAGNOSIS: P.E. - urethral opening in a wrong position combined with other symptoms : Foreskin incompletely dev resulting in a dorsal hood (tip of the penis exposed) penis curvature (chordee) undescended tested
143. Untreated HYPOSPADIAS Abn direction of urine flow Abn appearance of penis Infertility Inability of sexual intercourse
144. Treatment SURGERY - create a normal straight penis with a urinary channel - tip of the head
145. If the opening is proximal, treatment with ♂hormone TESTOSTERONE prior to surgery recommended Hypospadias located within or near the scrotum should have a voiding cystogram to R/O add’l urinary tract anomalies
146. Recommended age of surg repair: between 4-12 mo. - size of the penis - slow rate of growth of the penis Children should not be circumcised: foreskin is essential in repair surgery
147.
148. Very few children experience post-op complications: wound infections unexpected opening near the repair site
172. Both viral types can: Inactive/'silent‘: no symptom cause 'outbreaks' of blisters and ulcers People can remain infected for life after the 1st episode
183. CYTOMEGALOVIRUS Cause: DNA, ether sensitive virus of the herpes family Occurs worldwide Transmission: HUMAN CONTACT – harbors infection for mos. or yrs. About 4 / 5 people > 35 y/o - been infected with CMV in childhood or early adulthood Most cases - mild
184. CMV – pregnancy hazardous to the fetus: brain damage neonatal illness other birth defects stillbirth CMVfound in: Blood / breast milk / cervical secretions Feces / saliva / semen / urine/ vaginal secretions
185. RISK GROUPS : Immunodeficient patients AIDS patients Who received transplanted organs those receiving immunosuppressives - dev pneumonia / other secondary infections Recipients of BT from donors with + CMV Abs
186. CMV - spread through the body in lymphocytes or monos to the lungs, liver, and CNS where it produces inflammatory reactions self-limiting
190. Tubular epithelium of fetal kidney - many large violet INCs Inclusions may appear in the urine
191. NEONATAL RESPIRATORY DISTRESS SYNDROME Cause: inadeq prod surfactant Surfactant - prod by type II pneumocytes with property of decreasing surface tension Alveolar surfactant - prod after 30 wks AOG
192. Inadeqsurfactant - causes air sacs to collapse on expiration & greatly increasethe energy req for breathing Interstitial edema makes the lung even less compliant – leads to O2 & retention of CO2
193. The immature lungs: cannot retain air the air spaces empty completely and collapse after the 1st exhalation Plasma leaks out of the lung tissue and coats the air spaces with a pink coating that is glassy or hyaline in appearance
194. RISK FACTORS Premature delivery C/S without maternal labor Male infants Hypothermia Perinatal asphyxia Maternal DM Multiple pregnancy Family history of RDS
195. PRESENTATION preterm delivery - with RD: tachypnea & expiratory grunting subcostal and intercostal retractions diminished breath sounds cyanosis nasal flaring & fatigue apnea and hypoxia
196. SUDDEN INFANT DEATH SYNDROME SIDS is the unexpected, sudden death of a child under age 1 in which an autopsy does not show an explainable cause of death.
198. occur w/o any warning or symptoms when the infant sleeping SIDS is most likely to occur betwn 2 - 4 mos & 90% occur by 6 mos occurs more often wet months, with the peak in January
199. Factors: risk of SIDS Babies who sleep on their stomachs Babies who are around cigarette smoke while in the womb or after being born
200. Babies who sleep in the same bed as their parents Babies who have soft bedding in the crib Multiple birth babies (being a twin, triplet, etc.) Premature babies
201. Babies who have a brother or sister who had SIDS Mothers who smoke or use illegal drugs Teen mothers Short time period between pregnancies Late or no prenatal care Situations of poverty
202. Symptoms no symptoms Babies who die of SIDS do not appear to suffer or struggle Exams and Tests Autopsy - not able to confirm a cause of death
216. A 45 days old female infant was brought to the hospital with swelling in the right thigh Noticed swelling - 11 days old, No hx fever, pain / birth trauma, Swelling diffuse from lower end of femur > mid shaft, Margins indistinct but well defined on palpation, Temp normal, No tenderness, Shape fusiform, firm hard in consistency, Non-mobile, overlying skin & surr muscles - free
217. LNs in drainage area - not palpable, Distal neuro-vascular status - N° x-ray 11 days old did not show any abnormality
218. On the 45th day of life, - a circumferential overgrowth of radio opaque tissue which covered the normal bone like a shell. Cortices of underlying bone were intact FNAC and Tissue Biopsy - CMF suggestive of fibromatosis
231. NEUROBLASTOMA Most common tumor diagnosed < 1 y/o 25-35% arise from adrenal medulla 2nd most common location: paravertebral region of the posterior mediastinum
232. In-situ neuroblastomas – 40x > overt Prognosis: depends on the histologic variations, staging & cytogenetic characteristics
234. “Small round blue cell" tumor Small primitive-appearing cells with dark nuclei, scant cytoplasm, poorly defined cell borders in solid sheets Homer-Wright pseudorosettes
236. RHABDOMYOSARCOMA RARE most common- 1st decade Skeletal muscle derivation Embryonal rhabdomyosarc A variant seen in the genital tract -SARCOMA BOTRYOIDES Alveolar variant Head and Neck & the GUT
237. Very cellular, esp around blood vessels Hypercellular foci alternate with areas of myxoid or edematous change foci of necrosis
238. Tumor cells: small & vary in shape fr round to oval to spindle, occ bizarre forms w/ more abundant, brightly acidophilic cytoplasm, Primitive round blue cells “Rhabdomyoblasts” in nests with spaces & surrounded by fibrous stroma.
