childhood and infancy disesase

1. Bernadette R. Espiritu, M.D. FPSP.
Anatomic & Clinical Pathologist
DISEASE OF INFANCY & CHILDHOOD

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

6. • 1st year - after birth

7. • 1-4 y/o
• 5-14 y/o

8. PRE-TERM
• Born < 37-38 weeks
• Vital organs are premature

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

12. INFANT MORTALITY
- per 1000 live births die before their 1st birthday
• 10x more in the1st wk of life than in the 2nd wk
• Born< 34th wk with Wt 1-1500 g : 50%M
90%m
• Born > 34th wk with Wt of 1-1500 g: 13%M
86%m

13. CAUSES OF DEATHS
1ST 12 MONTHS:
Immaturity
RDS
Birth trauma, Birth asphyxia
Congenital anomalies
Complications of Pregnancy
Bacterial sepsis, Pneumonia,
Meningitis
CNS disease
Accidents

14. 1st - 4th & 5th -14th y/o
Accidents – leading
cause of death
Natural Diseases:
 Congenital anomalies
 Malignant neoplasm
 Pneumonia

15. • Duration of Human pregnancy: 40 +/- 2 wks
• Most NB wt = 3300 +/- 600 g
• Prematurity – AOG < 37 wks from LMP
• Low Birth wt - < 2500 g are classified as:
AGA
SGA

16. LOW BIRTH WEIGHT: “SGA" and "preterm".
• Low birth weight
<2500 gm
• Very low birth weight
<1500 gm
• Extremely low birth wt
<1000 gm

17. SGA:
• not grow properly in the uterus
• organs will have
problems

18. • SGA CAUSES:
1) FETAL:
- reduce growth despite adeq nutrient
from mother
a. chromosomal disorder
b. congenital anomalies
c. congenital infections

19. 2) PLACENTAL
- 3rd trimester
- Uteroplacental insufficiency
a. infections
b. tumors
c. vascular lesions :
infarctions

20. 3) MATERNAL
- Under nutrition
- Narcotic abuse
- Alcohol intake
- Cigarette smoking
- Vascular disease:
a. Toxemia
b. Chronic
c. Hypertension

21. IMMATURITY OF ORGANS
LUNGS
- 7th month – alveoli begin
to differentiate
- epithelial lining-cuboidal
not suited in effecting
transfer of O2 to blood

22. ...Lungs
• 26th -32nd wks AOG – cuboidal epith > flat
type I alveolar epithelial cells & type II cells
that contain lamellar bodies

23. • 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

24. …Type II
a. source of pulmonary
surfactant
b. involved in the repair of
the alveolar epithelium
after destruction of
Type I cells

25. • PULMONARY SURFACTANT :
“lecithin”phosphatidylcholine contained in a thin
film
of phospholipid in the glycoprotein–containing
cell coat adjacent to the alveolar cell membran

26. 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

27. 3) inadequate surfactant activity play a role
in RDS of infants & adults

28. • IMMATURE LUNGS:
- Unexpanded
- red & meaty
- alveolar spaces incompletely expanded
- contain pink proteinaceous ppt & some
squamous cells

29. • PRENATAL RESPIRATORY DISTRESS
- large amount of amniotic debris, squames,
lanugo hair & mucus

30. • Hyaline membrane dis
- Dilatation of the alveolar
spaces
- Many air spaces- lined by
thick hyaline membranes

31. • IMMATURE KIDNEY
- formation of glomeruli:
incomplete
- primitive glomeruli :
subcapsular zone
- deeper glomeruli are
well-formed
- complete nephrogenesis
34th wk AOG

32. Kidneys of FTneonate
(37 - 41 wks AOG):
full set of nephrons:
850 - 1,200,000 / k

33. EVENTS: PREGNANCY
1. growth retardation
2. nephrotoxic drugs
adm to mothers

34. BRAIN
- Incomplete dev
- Surface smooth
- delineation of white & gray matter: ill-def
- poorly dev myelination
of nerve fiber

35. BRAIN
Vital brain centrs
sufficiently dev
Homeostasis
not perfect
Poor vasomotor
control
Irreg resp
Feeble sweating

36. Inc size
persist EM hematopoiesis
Def - bil glucoronyl transferase
Def - hydroxylating enzymes Dec- CHON synthetic
capacity
LIVER

37. APGAR SCORE
• METHOD: evaluating physiologic condition
& responsiveness of NB > chance of
survival
• Evaluation at 1 min or at
5 min
• 10 – best condition

38. …APGAR SCORE
• 0-1 = 50% Mm in 1st mo.
• 4 = 20% M in 1st mo.
• 7 or > = 0% M in 1st mo.

39. SIGN 0 1 2
HR Absent < 100 > 100
Resp effort Absent Slow, Irregular Good, Crying
Muscle Tone Limp Some flexion of
extremities
Active motion
Response to catheter
in nostril
(tested after
oropharynx is clear)
No response Grimace Cough or sneeze
Color Blue, pale Body pink,
extremities blue
Completely pink
APGAR SCORING

40. 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

41. 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

42. 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

43. • progressive accumulation - interstitial fluid
in the soft tissues of the skull: circ area of
edema congestion & swelling
• assc with PROM
or
oligohydramnios

44. 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

45. PROGNOSIS
• Complete recovery expected
• Scalp regain normal contour
COMPLICATIONS
• Jaundice - as the bruise breaks down into
bilirubin

46. CEPHALHEMATOMA:
Hge under the scalp ("subgaleal hematoma”)
• No known risks
• Dark red blood
under galea
aponeurotica over the
cranium
• fairly common
during birth

47. • 25%Cephalhematoma
underlying skull fracture
• CAUSES: Skull fractures
Precipitate delivery
Inapprop use of forceps
Prolonged labor with disproportion
between the size of fetal head and birth
canal

48. DEVELOPMETAL
ANOMALIES

49. CONGENITAL MALFORMATIONS
• Present at birth
• 3%NBmajor malformation
MALFORMATION – intrinsic abnormalities occurring
during the developmental process

50. …Malformation
• Single body system
congenital heart defects
anencephaly
• Multiple body system

51. CAUSES: Malformation
 chromosomal problems
 genes of large effect
 deletions of chunks of a
chromosome polygenic
problems
 unknown

52. • DEFORMATION
- arise later
- represents an alteration in form/ structure
resulting from a mechanical factor
- abn in shape, form or
position of body
CAUSE: Uterine constraint
35th - 38th wk; fetus grows > the uterine w/
relative decr of amniotic fluid

53. …Deformation
CAUSE:
- Uterine constraint bet 35th - 38th wk
- fetus grows > the uterus w/ relative dec of
the amniotic fluid

54. • Deformation from
constraint with oligo-
hydramnios
in utero(varus deformity)
• The feet are turned
inward
CLUB FEET

55. • Maternal Factors:
 First pregnancy
 Small uterus
 Malformed (bicorn uterus)
 Leiomyomas
• Fetal or Placental Factors:
 Oligohydramnios
 Multiple fetuses
 Abn fetal presentation

56. • DISRUPTION
- 3rd main error of morphogenesis
- results from 2ndary destruction of interference with
an organ or body region that was previously normal
in development
- not hereditary
- caused by extrinsic or intrinsic factors: vascular
insults - Ex: amniotic bands

57. Cause: extrinsic or intrinsic factors- vascular
insults
- Ex: amniotic bands

59. • SEQUENCE: pattern of cascade
anom(unrelated)
classic exam: POTTER
OLIGOHYDRAMNIOS SEQUENCE
squashed ("Potter's") face and badly bent
limbs

60. CAUSES: Oligohydramnios
1. 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

61. Oligo-H SEQUENCE
• ANENCEPHALY
aniridia / WT-1 complex
“AGA“
• BRACHYDACTYLY (short fingers / toes)
• BRONCHIECTASIS

62. 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

63. • absence of cranial
vault
- anencephaly

64. • EYESappear proptotic
with anencephaly - the
lack of
the skull
• EAR-low set

65. 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

66. SPINA
BIFIDA

67. • 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

68. • Most severe form- spinal rachischisis:
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

69. • Spina bifida - readily apparent at birth
because of the malformation of the back
and PARALYSIS below the level of the
abnormality

70. FORMS OF SPINA BIFIDA
• meningomyelocele
• myelomeningocele
• spina bifida aperta
• open spina bifida
• myelodysplasia
• spinal dysraphism
• spinal rachischisis
• myelocele
• meningocele

71. 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

72. 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

73. • 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

74. 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

75. • 75% of abn -in the lower back (lumbar)
region
• Rarely- the spinal cord malform occur
internally: with connection to the GIT

76. 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

77. HYDROCEPHALY
• accum of excess fluid in the four cavities
of the brain
- At least 1: 7 cases dev
• Chiari II malform- the lower part of the
brain is crowded & forced into the upper
part of the spinal cavity

78. PRENATAL DIAGNOSIS
• 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

79. 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

80. TREATMENT
• Surgical & Medical mgt improved the
survival & function of infants with spina
bifida
• Initial surgery – 1st days of life, provide
protection against injury & infection

81. • 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

82. • 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

83. • INIENCEPHALY Slight
variation of neural tube
defect
• Lack of proper formation of
occ bones with short neck
& defect of the upper cord
• Head tilted back

84. • Fetus from a termination of pregnancy via
D&C done in the 2nd trimester
• Note the large neural tube defect in the
lower back

85. • 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

86. 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

87. RACHISCHISIS in a fetus
that also has
INIENCEPHALY

88. 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)

89. MENINGOCOELE
• Spina Bifida: spinal cord
dev NORMALLY
but the meninges protrude
from a spinal opening
• Saccular Herniation of
meninges & CSF through a
bony defect of the spine

91. Meningomyelocoele

92. • FOLATE SUPPLEMENT prior to and during
pregnancy reduces the incidence of neural
tube defects

93. SYNDROME:
• constellation of cong anom that are
pathologically related
• caused by a single etio agent that
simultaneously affect different tissues
- viral
- chrom abn

94. • DISEASE:
when the underlying cause of the condition
becomes known

95. • AGENESIS – complete absence of an
organ & its assoc primordium
• APLASIA – absence due failure of
developmental anlage to develop
• HYPOPLASIA – incomp devt of an organ
w/ decr number of cells

96. RENAL
AGENESIS

97. RENAL
HYDRO-
GENOSUS

98. ATRESIA: absence opening of hollow visceral
organ
COLONIC ATRESIA w/ add’nal
anom:
• Persist cloaca: failure of
urogen septum to form
R & L testis cryptorchid &
absence of penis

99. • HYERPLASIA: overdevt of organ with
increase in number of cells
• HYPERTROPHY: increase in size
• HYPOTROPHY: decrease in size
• DYSPLASIA: abnormal organization of cells

100. CAUSES: MALFORMATION
• GENETIC
- Chromosomal aberration
- Mendelian inheritance
• ENVIRONMENTAL
- Maternal/placental infections
- Maternal disease states
- Drugs & chemicals
• MULTIFACTORIAL
• UKNOWN

101. GENETIC CAUSES
• "ROCKER BOTTOM"
foot with a prominent
calcaneus and
rounded bottom
• Chrom abn: TRISOMY
18

102. TRISOMY
18

103. • 50% - occur with DOWN
SYNDROME
• UTZ - "double bubble"
sign from duodenal
enlargement proximal to
the atresia
Duodenal atresia

105. DOWN
SYNDROME

106. • polydactyly
extra fingers/toes
• syndactyly
fused fingers
• 3rd & 4th fingers
fused to 1 large
digit; seen w/
triploidy (69 chromosomes)
MENDELIAN INHERITANCE

108. ectrodactyly

109. 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

110. • Such a stiff fetus freq sustains fractures
before or during delivery
• NB w/ fractured rt humerus

112. HEMOLYTIC DISEASE OF THE
NEWBORN

113. 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

114. Normal RBCs, damaged RBCs, & immature
RBCs that still contain nuclei

115. • Anemia - dev in unborn
infant when maternal
Abs attack the RBC of
the fetus
• An IU BT may be
indicated

116. • The immune system recognizes Ag & produces Ab
that destroy substances containing Ag

117. 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

118. • May be assoc with polyhydramnios &
placental edema
• Cause: Rhesus (Rh) blood group iso-
immunization of the fetus

119. Epidemiology
• 1 : 600 to 1 : 4Kpregnancies
• Varies accdg to population risk of the condition
known
Ex: Thailand
- expected freq hydrops fr homozygous α-
thalassemia or Bart hydrops is:
1 : 500–1:1,500pregnancies

120. ETIOLOGY
Hematological causes
• Iso-immunization hemolytic disease of NB
• Erythroblastosis fetalis
• Rhesus, Kell, ABO and Duffy
incompatibility

121. Other HEMOLYTIC disorders:
• Glucose-6-phosphatase Dehydrogenase
Def(G6PD)
• Glucose Phosphateisomerase (GPI)
deficiency
• Pyruvate kinase (PK) Def

122. ETIO:
RBC PRODUCTION Disorders
• Congenital dys-erythropoietic anemia
• Diamond-Blackfan syndrome
• Lethal hereditary spherocytosis
• Congenital erythropietic porphyria(Günther's disease
• α-thalassemia
(Bart's hemoglobinopathy)

123. ETIO: Fetal HEMORRHAGE
• intracranial or intraventricular hge
• hepatic laceration
• subcapsular hepatic laceration
• feto-maternal hemorrhage
• twin-to-twin transfusion

124. ETIO: CARDIAC causes
• Abnormalities of Lt Vent outflow
• Aortic valvular stenosis or atresia
• Coarctation of the aorta
• Truncus arteriosus
• Hypoplastic left heart
• Endocardial fibroelastosis

125. ETIO: Abn of Rt Vent
outflow
• Pulmonary Valvular Atresia or insufficiency
• Ebstein's anomaly
• AV-Malforamation
Hemangiomas

126. ETIO: NO structural anom
• Sup vena cava or Inf vena cava occlusion
• Intrathoracic or abd masses
• Disorders of lymph drainage
• Arrhythmias
• Supravent tachycardia

127. …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

128. ETIO:
INFECTIVE causes
• Parvovirus B19-slapped cheek syndrome
• PCR testing demonstrated that 20% fetal
hydrops is assoc with:
• CMV
• SY
• HERPES SIMPLEX

129. …INFECTIVE Causes
• Toxoplasmosis
• Hepatitis B
• Adenovirus
• Coxsackie virus type B
• Listeria monocytogenes
• Ureaplasma urealyticum

130. ETIO:
• METABOLIC and other causes
-inborn errors of metabolism
• Glycogen-storage disease
type IV
• Lysosomal storage dis
• Hypothyroidism
• Hyperthyroidism

131. ETIO: CHROMOSOMAL SYNDROMES:
• Trisomies 10,13,15,18
• Trisomy 21(Down's syndrome)
• Turner's syndrome (45, X)
• other autosomal recessive genetic disorders

132. • ETIO:
• Tumours
Sacrococcygeal Teratoma

133. PROGNOSIS
Spontaneous remission: CAUSES:
• Cardiac arrhythmias
• Twin-to-twin transfx syndrome
• Cystic hygroma
• Parvovirus & CMV infections
• Idiopathic ascites or pleural effusions

134. HYDROPS
FETALIS

135. HYPOSPADIAS
Urinary tract opening
or urethral meatus
opens the underside
of the penis or on the
perineum

136. ETIOLOGY
• Abnormal Devt of penis
• Various problems w/ male hormone action
• Genetic

137. 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

138. Untreated HYPOSPADIAS
• Abn direction of urine flow
• Abn appearance of penis
• Infertility
• Inability of sexual intercourse

139. Treatment
SURGERY - create a normal straight penis with
a urinary channel - tip of the head

140. • 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

141. • 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

142. PROGNOSIS
- Post repair the penis - functions normally
- Very few children experience post-op
complications:
wound infections
unexpected opening near the repair site

143. BLADDER EXTROPHY

144. GASTROSCHISIS

145. CLEFT LIP

146. DIAPHRAGMATIC
HERNIA

147. CLUB FOOT

148. HYDROCEPHALUS
•CSF collects in
the cranium >
vent to dilate
•At birth or
early adulthood
•Causes:
brain tumors,
infection,
trauma, or
devt’l anom

149. PYLORIC STENOSIS

150. TRACHEO
ESOPHAGEAL
FISTULA

151. TRISOMY
13

152. TURNER SYNDROME

153. PERINATAL INFECTION

154. PRIMARY ROUTES:
1. Trans-cervically –
Ascending
- Herpes Simplex II
- inhalation of amniotic fluid
pneumonia
sepsis
most common sequelae
meningitis

155. 2. TRANSPLACENTALLY – Hematologic via the
chorionic villi
• PARASITIC
• VIRAL
HIV
Parvovirus B19 – 5th disease
• BACTERIA
Listeria
Treponema
• TORCH INFECTIONS

156. CONGENITAL SYPHILLIS
early evidence of infection:
bullae and vesicular rash Early evidence:
osteochondritis
of femur & tibia

157. later evidence
saddle nose
Later evidence - Hutchinson's
teeth
Later evidence saber shins

158. PRIMARY SY
SECONDARY SY
TERTIARY SY
TERTIARY SY –
trophic
degeneration

159. CONGENITAL SYPHILIS
• granulomatous process : "gumma“
• Gumma- located in the heart of a fetus
• Syphilis acquired IU in the 3rd trimester.

160. Spirochetes - T. pallidum, the causative
agent

161. RUBELLA

162. CONGENITAL RUBELLA SYNDROME
• Rubellacause: Togavirus genus Rubivirus
• Child: Few/no symptoms
Adults:1-5 day prodrome
LG fever, headache,
malaise, coryza, &
conjunctivitis
• Arthralgia/arthritis: 70%adult ♀

163. 1st trim- CRS can cause
• Abortions
• Miscarriages
• Stillbirths
• Severe birth defects

164. The most common CRS Congenital defects
are:
• Cataracts
• Heart disease
• Sensorineural deafness
• Mental retardation

165. HERPES VIRUS
• HSV-type 1:
oral herpes
fever
blisters: mouth/ face
• HSV-type2:
Genital Herpes

166. Both viral types can:
• Inactive/'silent‘: no symptom
• cause 'outbreaks' of blisters and ulcers
• People can remain infected for life after the
1st episode

167. TRANSMISSION: Direct contact
 Sexual contact
 Anal / Oral / Vaginal sex
 Kissing
 Skin-to-skin contact

168. GENITAL HERPES
• transmitted with or without sores or other
symptoms
• transmitted by people who do not realize
infection can be passed on even when
there are no symptoms
• transmitted by people unaware they are
infected

169. HSV-2
• Mild to no symptoms
• Recurrent painful genital ulcers
• Severe with suppressed immune systems

170. • Severe genital herpes - psychological &
emotional stress
• Pregnants- fatal infections in infants
• C/S delivery - with active genital herpes

171. EARLY SYMPTOMS :
 burning sensation in the genitals
 flu-like symptoms
 lower back pain
 painful urination

172. Small red bumps – in genital area after initial
symptoms > painful blisters: crust over > scab >
Heal
DIAGNOSIS/TESTING
• Tzanck smear - scrapings from lesions > stained
> examined under microscope

173. 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

174. CMV – pregnancy hazardous to the fetus:
• brain damage
• neonatal illness
• other birth defects
• stillbirth
CMV found in:
• Blood / breast milk / cervical secretions
• Feces / saliva / semen / urine/ vaginal
secretions

175. 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

176. • CMV - spread through the body in
lymphocytes or monos to the lungs, liver,
and CNS where it produces inflammatory
reactions
• self-limiting

177. CYTOMEGALOVIRUS

179. “owl-eye”

180. • Tubular epithelium of fetal kidney - many large
violet INCs
• Inclusions may appear in the urine

181. 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

182. • Inadeq surfactant - 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

183. • 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

184. RISK FACTORS
• Premature delivery
• C/S without maternal labor
• Male infants
• Hypothermia
• Perinatal asphyxia
• Maternal DM
• Multiple pregnancy
• Family history of RDS

185. PRESENTATION
preterm delivery - with RD:
• tachypnea & expiratory grunting
• subcostal and intercostal retractions
• diminished breath sounds
• cyanosis
• nasal flaring & fatigue
• apnea and hypoxia

186. 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.

187. Causes
• Unknown
• Problems w/ sleep arousal
• Inability to sense a build-up of CO2 in the
blood

188. • 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

189. Factors: risk of SIDS
• Babies who sleep on their stomachs
• Babies who are around cigarette smoke
while in the womb or after being born

190. • 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

191. • 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

192. 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

193. NEOPLASM

194. HEMANGIOMA

195. • Beneath the skin surface are many dilated
vascular channels filled with many red
blood cells

196. LYMPHANGIOMA
There is a large mass involving the left
upper arm and left chest of this fetus.

197. • Large lymphatic spaces lined by a thin endothelium
• Adjacent stroma w/ lymphoid nodules
• Tend to involve head, neck, & chest

198. • Enlarged lymphatic spaces lined by a thin endothelium –
HPO
• Poorly circumscribed & extend widely to surrounding soft
tissues
• surgical removal difficult

199. FIBROMATOSIS
Fibromatoses:
Rare soft tissue disease characterized by
fibroblastic proliferation

200. CLASSIFICATION
• Fibroblastic fibromatoses
• Desmoid Fibromatosis
(desmoid tumor, aggressive fibromatosis)
• Fibromatosis colli

201. • ….Classification
• Digital infantile fibromatosis
• Aponeurotic fibromatosis
plantar fibromatosis
palmar fibromatosis
penile fibromatosis

202. …Classification:
• Hereditary gingival fibromatosis (idiopathic
gingival fibromatosis)
• Lipofibromatosis

203. ….. Classification:
• Myofibroblastic fibromatoses
(myofibromatoses)
• Infantile myofibromatosis
(infantile myofibroma)

204. According to the LOCALIZATION
• Superficial
• Deep

205. • 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

206. • LNs in drainage area - not palpable, Distal
neuro-vascular status - N° x-ray 11 days old
did not show any abnormality

207. 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

210. TERATOMA
Large nasopharyngeal teratoma that is
protruding from the oral cavity

211. Benign
3 embryologic germ layers :
Skin (ECTODERM)
Cartilage (MESODERM)
Colonic gland (ENDODERM)

212. CYSTIC FIBROSIS : PANCREAS
• Ducts - dilated &plugged w/ eosinophilic mucus
• Acini of exocrine glands - atrophic & replaced by
fibrous tissue

213. MALIGNANT TUMORS

214. WILM’S TUMOR

215. •Lobulated tan-white mass
•Manifests as an abd mass
•Most common 1° renal tumor
of childhood
•90% of Wilm’s tumors are
diagnosed during
the 1st 6 yrs (2-5)
•25% of cases
are assc with HPN

216. •Resembles primi nephrogenic zone of fetal kidney, w/
primitive glomeruloid struct & cellular stroma
•Assc mutations involv WT1 tumor suppressor gene
chrom 11
•Excellent prognosis & >80% cure rate

217. • WT-1 complex ( formerly WAGR):
Wilms' tumor
Aniridia (no iris)
Growth Retardation

218. NEUROBLASTOMA
• Most common tumor diagnosed < 1 y/o
• 25-35% arise from adrenal medulla
• 2nd most common location: paravertebral region
of the posterior mediastinum

219. • In-situ neuroblastomas – 40x > overt
• Prognosis: depends on the histologic
variations, staging & cytogenetic
characteristics

220. • Gross: soft, gray, brain-like, necrosis,
hges, cystic softening, calcification

221. • “Small round blue cell" tumor
• Small primitive-appearing cells with dark nuclei, scant
cytoplasm, poorly defined cell borders in solid sheets
• Homer-Wright pseudorosettes

222. STAGING:NEUROBLASTOMA
Stage 1 Tumor confined to the organ of origin
Stage 2 Tumor extends in continuity to beyond organ of Origin but
does NOT cross the midline. Ipsilateral LN may or may not
be affected
Stage 3 Extends beyond the midline, Ipsilateral LN may or may not
be affected
Stage 4 Metastasis to the viscera, Distal LN, and skeleton
Stage 4-S Small adrenal tumors & extensive disease infiltrating the
liver, skin, bone marrow without evidence of bony
destruction

223. 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

224. • Very cellular, esp around blood vessels
• Hypercellular foci alternate with areas of myxoid
or edematous change foci of necrosis

225. • 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.

226. RETINOBLASTOMA
• Flexner-Wintersteiner Rosettes
• " Differentiated structures photoreceptor-linked "

227. THANK YOU FORYOUR
ATTENTION
•