Download - Diseases Of Infancy & Childhood
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Bernadette R. Espiritu, M.D. FPSP. Anatomic & Clinical Pathologist
DISEASE OF INFANCY & CHILDHOOD
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• Neonatal age – 1st 4 weeks• Infancy – 1st year• Early childhood – 1-4 years• Late Childhood – 5-14 years
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• An unborn child or POC with child parts in the 1st 8 wks after conception
EMBRYO
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• unborn child / POC with child-parts not just placenta, 8 wks after conception to birth ("all-the-way-out with a beating heart”)
FETUS
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• 1st 4 weeks of life birth• Most hazardous vulnerable period• Transition from IUlife• Circulation • Resp function take over• Maintenance of body temp
NEONATE
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• 1st year - after birth
INFA
NT
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• 1-4 y/o
• 5-14 y/o
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PRE-TERM• Born < 37-38 weeks• Vital organs are premature
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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
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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
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RISKS OF FETUS & NB: POST-TERM
• Placenta begins to age• Amniotic fluid vol decrease• Large baby • Meconium aspiration• Hypoglycemia
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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
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CAUSES OF DEATHS
1ST 12 MONTHS:Immaturity
RDS
Birth trauma, Birth asphyxia
Congenital anomalies
Complications of Pregnancy
Bacterial sepsis, Pneumonia,
Meningitis
CNS disease
Accidents
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1st - 4th & 5th -14th y/oAccidents – leading
cause of death
Natural Diseases: Congenital anomalies Malignant neoplasm Pneumonia
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• 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
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LOW BIRTH WEIGHT: “SGA" and "preterm".
• Low birth weight
<2500 gm • Very low birth weight
<1500 gm• Extremely low birth wt
<1000 gm
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SGA: • not grow properly in the uterus• organs will have
problems
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• SGA CAUSES:
1) FETAL:
- reduce growth despite adeq nutrient from mother
a. chromosomal disorder
b. congenital anomalies
c. congenital infections
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2) PLACENTAL
- 3rd trimester
- Uteroplacental insufficiency
a. infections
b. tumors
c. vascular lesions :
infarctions
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3) MATERNAL
- Under nutrition
- Narcotic abuse
- Alcohol intake
- Cigarette smoking
- Vascular disease:
a. Toxemia
b. Chronic
c. Hypertension
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IMMATURITY OF ORGANS
LUNGS
- 7th month – alveoli begin
to differentiate
- epithelial lining-cuboidal
not suited in effecting
transfer of O2 to blood
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...Lungs
• 26th -32nd wks AOG – cuboidal epith > flat type I alveolar epithelial cells & type II cells that contain lamellar bodies
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• 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
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…Type II
a. source of pulmonary
surfactant
b. involved in the repair of
the alveolar epithelium
after destruction of
Type I cells
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• PULMONARY SURFACTANT :
“lecithin”phosphatidylcholine contained in a thin film
of phospholipid in the glycoprotein–containing
cell coat adjacent to the alveolar cell membrane
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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
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3) inadequate surfactant activity play a role in RDS of infants & adults
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• IMMATURE LUNGS:
- Unexpanded
- red & meaty
- alveolar spaces incompletely expanded
- contain pink proteinaceous ppt & some squamous cells
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• PRENATAL RESPIRATORY DISTRESS - large amount of amniotic debris,
squames, lanugo hair & mucus
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• Hyaline membrane dis - Dilatation of the alveolar
spaces- Many air spaces- lined by
thick hyaline membranes
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• IMMATURE KIDNEY
- formation of glomeruli:
incomplete- primitive glomeruli :
subcapsular zone- deeper glomeruli are
well-formed- complete nephrogenesis
34th wk AOG
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Kidneys of FTneonate
(37 - 41 wks AOG):
full set of nephrons:
850 - 1,200,000 / k
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EVENTS: PREGNANCY
1. growth retardation 2. nephrotoxic drugs adm to mothers
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BRAIN
- Incomplete dev
- Surface smooth
- delineation of white & gray matter: ill-def- poorly dev myelination
of nerve fiber
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BRAIN
Vital brain centrs
sufficiently dev
Homeostasis
not perfect
Poor vasomotor
control
Irreg resp
Feeble sweating
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Inc size
persist EM hematopoiesis
Def - bil glucoronyl transferase
Def - hydroxylating enzymes Dec- CHON synthetic capacity
LIVER
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APGAR SCORE• METHOD: evaluating physiologic condition
& responsiveness of NB > chance of survival
• Evaluation at 1 min or at
5 min• 10 – best condition
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…APGAR SCORE
• 0-1 = 50% Mm in 1st mo. • 4 = 20% M in 1st mo.• 7 or > = 0% M in 1st mo.
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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
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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
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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
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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
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• progressive accumulation - interstitial fluid in the soft tissues of the skull: circ area of edema congestion & swelling
• assc with PROM
or
oligohydramnios
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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
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PROGNOSIS• Complete recovery expected• Scalp regain normal contour
COMPLICATIONS• Jaundice - as the bruise breaks down into
bilirubin
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CEPHALHEMATOMA:
Hge under the scalp ("subgaleal hematoma”)• No known risks• Dark red blood
under galea
aponeurotica over the
cranium • fairly common
during birth
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• 25%Cephalhematoma underlying skull fracture
• CAUSES: Skull fracturesPrecipitate deliveryInapprop use of forcepsProlonged labor with disproportion
between the size of fetal head and birth canal
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DEVELOPMETAL ANOMALIES
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CONGENITAL MALFORMATIONS
• Present at birth• 3%NBmajor malformation
MALFORMATION – intrinsic abnormalities occurring during the developmental process
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…Malformation
• Single body system congenital heart defects anencephaly
• Multiple body system
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CAUSES: Malformation chromosomal problems genes of large effect deletions of chunks of a
chromosome polygenic
problems unknown
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• 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
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…Deformation
CAUSE:- Uterine constraint bet 35th - 38th wk
- fetus grows > the uterus w/ relative dec of the amniotic fluid
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• Deformation from constraint with oligo-hydramnios
in utero(varus deformity)
• The feet are turned inward
CLUB FEET
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• Maternal Factors: First pregnancy Small uterus Malformed (bicorn uterus) Leiomyomas
• Fetal or Placental Factors: Oligohydramnios Multiple fetuses Abn fetal presentation
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• 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
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Cause: extrinsic or intrinsic factors- vascular insults
- Ex: amniotic bands
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• SEQUENCE: pattern of cascade anom(unrelated)
classic exam: POTTER OLIGOHYDRAMNIOS SEQUENCE
squashed ("Potter's") face and badly bent limbs
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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
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Oligo-H SEQUENCE
• ANENCEPHALY aniridia / WT-1 complex “AGA“
• BRACHYDACTYLY (short fingers / toes)
• BRONCHIECTASIS
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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
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• absence of cranial vault
- anencephaly
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• EYESappear proptotic with anencephaly - the lack of
the skull
• EAR-low set
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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
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SPINA BIFIDA
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• 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
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• 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
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• Spina bifida - readily apparent at birth because of the malformation of the back and PARALYSIS below the level of the abnormality
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FORMS OF SPINA BIFIDA• meningomyelocele• myelomeningocele• spina bifida aperta• open spina bifida• myelodysplasia• spinal dysraphism• spinal rachischisis• myelocele
• meningocele
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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
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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
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• 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
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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
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• 75% of abn -in the lower back (lumbar) region
• Rarely- the spinal cord malform occur internally: with connection to the GIT
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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
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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
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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
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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
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TREATMENT• Surgical & Medical mgt improved the
survival & function of infants with spina bifida
• Initial surgery – 1st days of life, provide protection against injury & infection
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• 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
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• 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
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• 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
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• Fetus from a termination of pregnancy via D&C done in the 2nd trimester
• Note the large neural tube defect in the lower back
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• 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
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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
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RACHISCHISIS in a fetus that also has
INIENCEPHALY
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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)
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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
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Meningomyelocoele
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• FOLATE SUPPLEMENT prior to and during pregnancy reduces the incidence of neural tube defects
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SYNDROME:• constellation of cong anom that are
pathologically related• caused by a single etio agent that
simultaneously affect different tissues
- viral
- chrom abn
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• DISEASE:
when the underlying cause of the condition becomes known
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• 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
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RENAL AGENESIS
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RENALHYDRO-GENOSUS
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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
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• HYERPLASIA: overdevt of organ with increase in number of cells
• HYPERTROPHY: increase in size • HYPOTROPHY: decrease in size
• DYSPLASIA: abnormal organization of cells
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CAUSES: MALFORMATION• GENETIC
- Chromosomal aberration
- Mendelian inheritance• ENVIRONMENTAL
- Maternal/placental infections
- Maternal disease states
- Drugs & chemicals• MULTIFACTORIAL• UKNOWN
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GENETIC CAUSES
• "ROCKER BOTTOM" foot with a prominent calcaneus and rounded bottom
• Chrom abn: TRISOMY 18
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TRISOMY 18
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• 50% - occur with DOWN SYNDROME
• UTZ - "double bubble" sign from duodenal enlargement proximal to the atresia
Duodenal atresia
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DOWN SYNDROME
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• polydactyly extra fingers/toes
• syndactyly fused fingers
• 3rd & 4th fingers
fused to 1 large
digit; seen w/
triploidy (69 chromosomes)
MENDELIAN INHERITANCE
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ectrodactyly
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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
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• Such a stiff fetus freq sustains fractures before or during delivery
• NB w/ fractured rt humerus
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HEMOLYTIC DISEASE OF THE NEWBORN
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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
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Normal RBCs, damaged RBCs, & immature RBCs that still contain nuclei
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• Anemia - dev in unborn infant when maternal Abs attack the RBC of the fetus
• An IU BT may be
indicated
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• The immune system recognizes Ag & produces Ab that destroy substances containing Ag
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HYDROPS FETALIShydrops, 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
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• May be assoc with polyhydramnios & placental edema
• Cause: Rhesus (Rh) blood group iso-immunization of the fetus
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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
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ETIOLOGY
Hematological causes• Iso-immunization hemolytic disease of NB• Erythroblastosis fetalis• Rhesus, Kell, ABO and Duffy incompatibility
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Other HEMOLYTIC disorders:
• Glucose-6-phosphatase Dehydrogenase
Def(G6PD)• Glucose Phosphateisomerase (GPI)
deficiency• Pyruvate kinase (PK) Def
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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)
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ETIO: Fetal HEMORRHAGE
• intracranial or intraventricular hge• hepatic laceration• subcapsular hepatic laceration• feto-maternal hemorrhage• twin-to-twin transfusion
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ETIO: CARDIAC causes
• Abnormalities of Lt Vent outflow• Aortic valvular stenosis or atresia • Coarctation of the aorta • Truncus arteriosus• Hypoplastic left heart• Endocardial fibroelastosis
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ETIO: Abn of Rt Vent
outflow
• Pulmonary Valvular Atresia or insufficiency• Ebstein's anomaly • AV-Malforamation
Hemangiomas
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ETIO: NO structural anom
• Sup vena cava or Inf vena cava occlusion• Intrathoracic or abd masses• Disorders of lymph drainage• Arrhythmias• Supravent tachycardia
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…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
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ETIO:
INFECTIVE causes• Parvovirus B19-slapped cheek syndrome
• PCR testing demonstrated that 20% fetal
hydrops is assoc with:• CMV• SY• HERPES SIMPLEX
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…INFECTIVE Causes
• Toxoplasmosis• Hepatitis B• Adenovirus• Coxsackie virus type B• Listeria monocytogenes• Ureaplasma urealyticum
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ETIO: • METABOLIC and other causes
-inborn errors of metabolism
• Glycogen-storage disease type IV
• Lysosomal storage dis• Hypothyroidism• Hyperthyroidism
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ETIO: CHROMOSOMAL SYNDROMES:
• Trisomies 10,13,15,18• Trisomy 21(Down's syndrome)• Turner's syndrome (45, X)• other autosomal recessive genetic disorders
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• ETIO:
• Tumours
Sacrococcygeal Teratoma
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PROGNOSIS
Spontaneous remission: CAUSES: • Cardiac arrhythmias• Twin-to-twin transfx syndrome• Cystic hygroma• Parvovirus & CMV infections• Idiopathic ascites or pleural effusions
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HYDROPS FETALIS
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HYPOSPADIAS
Urinary tract opening or urethral meatus opens the underside of the penis or on the perineum
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ETIOLOGY
• Abnormal Devt of penis • Various problems w/ male hormone
action• Genetic
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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
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Untreated HYPOSPADIAS
• Abn direction of urine flow• Abn appearance of penis• Infertility • Inability of sexual intercourse
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Treatment
SURGERY - create a normal straight penis with a urinary channel - tip of the head
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• 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
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• 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
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PROGNOSIS- Post repair the penis - functions normally- Very few children experience post-op
complications:
wound infections
unexpected opening near the repair site
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BLADDER EXTROPHY
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GASTROSCHISIS
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CLEFT LIP
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DIAPHRAGMATIC HERNIA
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CLUB FOOT
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HYDROCEPHALUS
• CSF collects in the cranium > vent to dilate
• At birth or early adulthood
• Causes: brain tumors, infection, trauma, or devt’l anom
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PYLORIC STENOSIS
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TRACHEOESOPHAGEAL FISTULA
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TRISOMY 13
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TURNER SYNDROME
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PERINATAL INFECTION
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PRIMARY ROUTES:1. Trans-cervically –
Ascending
- Herpes Simplex II
- inhalation of amniotic fluid
pneumonia
sepsis
most common sequelae
meningitis
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2. TRANSPLACENTALLY – Hematologic via the chorionic villi
• PARASITIC• VIRAL HIV Parvovirus B19 – 5th disease• BACTERIA Listeria Treponema • TORCH INFECTIONS
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CONGENITAL SYPHILLIS
early evidence of infection: bullae and vesicular rash
Early evidence: osteochondritis of femur & tibia
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later evidence saddle nose
Later evidence - Hutchinson's teeth
Later evidence saber shins
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PRIMARY SYSECONDARY SY
TERTIARY SY
TERTIARY SY – trophic degeneration
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CONGENITAL SYPHILIS • granulomatous process : "gumma“ • Gumma- located in the heart of a fetus • Syphilis acquired IU in the 3rd trimester.
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Spirochetes - T. pallidum, the causative agent
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RUBELLA
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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 ♀
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1st trim- CRS can cause• Abortions• Miscarriages• Stillbirths• Severe birth defects
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The most common CRS Congenital defects are:
• Cataracts• Heart disease• Sensorineural deafness• Mental retardation
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HERPES VIRUS
• HSV-type 1:
oral herpes
fever
blisters: mouth/ face
• HSV-type2: Genital Herpes
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Both viral types can:
• Inactive/'silent‘: no symptom• cause 'outbreaks' of blisters and ulcers • People can remain infected for life after the
1st episode
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TRANSMISSION: Direct contact Sexual contact Anal / Oral / Vaginal sex Kissing Skin-to-skin contact
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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
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HSV-2
• Mild to no symptoms• Recurrent painful genital ulcers • Severe with suppressed immune
systems
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• Severe genital herpes - psychological & emotional stress
• Pregnants- fatal infections in infants• C/S delivery - with active genital
herpes
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EARLY SYMPTOMS : burning sensation in the genitals
flu-like symptoms lower back pain painful urination
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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
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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
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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
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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
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• CMV - spread through the body in lymphocytes or monos to the lungs, liver, and CNS where it produces inflammatory reactions
• self-limiting
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CYTOMEGALOVIRUS
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“owl-eye”
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• Tubular epithelium of fetal kidney - many large violet INCs
• Inclusions may appear in the urine
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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
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• 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
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• 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
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RISK FACTORS
• Premature delivery• C/S without maternal labor• Male infants• Hypothermia• Perinatal asphyxia• Maternal DM• Multiple pregnancy• Family history of RDS
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PRESENTATION
preterm delivery - with RD: • tachypnea & expiratory grunting• subcostal and intercostal retractions• diminished breath sounds• cyanosis • nasal flaring & fatigue• apnea and hypoxia
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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.
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Causes
• Unknown• Problems w/ sleep arousal • Inability to sense a build-up of CO2 in
the blood
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• 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
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Factors: risk of SIDS
• Babies who sleep on their stomachs
• Babies who are around cigarette smoke while in the womb or after being born
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• 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
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• 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
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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
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NEOPLASM
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HEMANGIOMA
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• Beneath the skin surface are many dilated vascular channels filled with many red blood cells
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LYMPHANGIOMA
There is a large mass involving the left upper arm and left chest of this fetus.
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• Large lymphatic spaces lined by a thin endothelium • Adjacent stroma w/ lymphoid nodules• Tend to involve head, neck, & chest
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• Enlarged lymphatic spaces lined by a thin endothelium – HPO
• Poorly circumscribed & extend widely to surrounding soft tissues
• surgical removal difficult
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FIBROMATOSIS
Fibromatoses:
Rare soft tissue disease characterized by fibroblastic proliferation
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CLASSIFICATION
• Fibroblastic fibromatoses
• Desmoid Fibromatosis
(desmoid tumor, aggressive fibromatosis)
• Fibromatosis colli
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• ….Classification
• Digital infantile fibromatosis
• Aponeurotic fibromatosis plantar fibromatosispalmar fibromatosispenile fibromatosis
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…Classification:
• Hereditary gingival fibromatosis (idiopathic gingival fibromatosis)
• Lipofibromatosis
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….. Classification:
• Myofibroblastic fibromatoses (myofibromatoses)
• Infantile myofibromatosis
(infantile myofibroma)
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According to the LOCALIZATION
• Superficial
• Deep
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• 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
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• LNs in drainage area - not palpable, Distal neuro-vascular status - N° x-ray 11 days old did not show any abnormality
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On the 45th day of life, - acircumferential 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
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TERATOMA
Large nasopharyngeal teratoma that is protruding from the oral cavity
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Benign3 embryologic germ layers : Skin (ECTODERM) Cartilage (MESODERM) Colonic gland (ENDODERM)
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CYSTIC FIBROSIS : PANCREAS • Ducts - dilated &plugged w/ eosinophilic mucus• Acini of exocrine glands - atrophic & replaced by
fibrous tissue
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MALIGNANT TUMORS
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WILM’S TUMOR
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• 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
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• 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
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• WT-1 complex ( formerly WAGR):
Wilms' tumor
Aniridia (no iris)
Growth Retardation
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NEUROBLASTOMA
• Most common tumor diagnosed < 1 y/o
• 25-35% arise from adrenal medulla
• 2nd most common location: paravertebral region of the posterior mediastinum
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• In-situ neuroblastomas – 40x > overt
• Prognosis: depends on the histologic variations, staging & cytogenetic characteristics
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• Gross: soft, gray, brain-like, necrosis, hges, cystic softening, calcification
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• “Small round blue cell" tumor• Small primitive-appearing cells with dark nuclei, scant
cytoplasm, poorly defined cell borders in solid sheets• Homer-Wright pseudorosettes
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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
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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
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• Very cellular, esp around blood vessels• Hypercellular foci alternate with areas of myxoid
or edematous change foci of necrosis
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• 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.
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RETINOBLASTOMA • Flexner-Wintersteiner Rosettes • " Differentiated structures photoreceptor-
linked "
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THANK YOU FORYOUR
ATTENTION
•