VIII- Child Path Flashcards
most common birth injuries
- caput succedaneum (scalp swelling)
- subgaleal hematoma
- skull fractures
- intracranial hemorrhage
- brachial plexus or facial nerve damage
- clavicle, humerus fractures
karyotypes of DS
down syndrome
- trisomy 21 (3 copies chromo 21) 47 chromos
- robertsonian translocation (familial, long part chromo 21 translocated to 14 or 22) still 46 chromos
- mosaic (some cells 47 some 46 aka mix of robert and trisomy)
best way to confirm diagnose
clinical features of DS
- flat facial profile - depressed nasal bridge and small nose
- oblique palpebral fissures- upward slant eyes
- epicanthal folds - small skin folds in inner eyes corner
- simian crease - single deep crease across palm
- mental retardation
- abundant skin in neck
- gap b/t first and second toes
pathogenesis of CF
epithelial chloride channel protein defect = high salt concentration in exocrine glands (sweat) + viscous fluid (mucus) in respiratory, GI, reprod tracts
-bc dec reabsorption of NaCl from the lumen via ENaC
-viscosity from dec Cl secretion into lumen and inc Na absorption = inc passive water reabsorp from lumen so dehydrated mucus
genetic features CF
autosomal recessive mutation of both alleles for CFTR gene on chromo 7q
-deletion of 3 nucleotides coding at position 508 for phenylalanine
CFTR is tissue specific
clinical features of CF in lungs
distended bronchioles + thick mucus WITH marked hyperplasia and hypertrophy of mucus secreting cells + severe lung inflamm
-thick collagen deposition
COD under 1 year
- congenital anomalies (anatomic defects at birth)
- prematurity (RDS leading COD for premature)
COD kids 5-14
- injury/accidents
- malignancy
most common malformations
- clubfoot W/O CNS anomalies = 25.7%
- patent ductus arteriosus = 16.9%
- ventricular septal defect = 10.9%
- cleft lip W or W/O cleft palate = 9.1%
rectal/ intestinal/esophageal atresia = 3.4%, boards like to test
small for gestational age
aka fetal weight below 10th percentile
factors of intrauterine growth restriction
- fetal abnormalities- symmetric FGR (all systems affected similar)
- placental abnormalitis- asymmetric FGR
- maternal (most common)- asymmetric FGR
brain growth normal in asym
maternal FGR
- preeclampsia- HTN, proteinuria, edema
- chronic hypertension
- thrombophilias
- malnutrition, drugs, alc, smoking, renal disease
complications of FGR
- perinatal asphyxia
- meconium aspiration
- brain dysfunction
- hearing and visual impair
- learning disabilities
- hypoglycemia
- polycythemia
most common causes of perinatal asphyxia
FGR
diseases in TORCH
T = toxoplasmosis
O = other - syphilis, HIV, HBV, listeriosis
R = rubella
C = cytomegalovirus infection (CMV)
H = herpes virus infection
etiology of SIDS
unexplained but risks if young maternal age, smoking during preg, drug abuse, lack prenatal care, short intergestational intervals
-infant has brain stem abnormal, premature, male, antecedent respir infection, multi birth preg
!!environmental!! prone sleep position, sleep on soft surface, hyperthermia, postnatal passive smoking
diagnosing SIDS
multiple petechiae + lung congestion from vascular engorgement + hypoplasia of arcuate nucleus + dec brain stem neuronal population
signs of atresia
baby regurgitates at every feeding
-if esophageal then may be almost completely occluded
rectal, intestinal, esophageal
complications of DS
- risk of ALL and AML (acute megakaryoblastic leukemia)
- alzheimers
- thyroid autoimmunity
- serious infections in lungs
clinical features CF can be
mild to severe, at birth or later onset, confined to one organ or multiorgan
-since so many different mutations and locations
chronic sinopulmonary disease
in CF
persistent infections and chest radiograph abnormalities
chronic cough and sputum
obstruction so wheezing and air trapping
nasal polyps
digital clubbing
GI abnormalities in CF
intestinal obstruction, rectal prolapse, meconium ileus
pancreatic insufficiency and inflamm
hepatic cirrhosis, jaundice
nutritional failure to thrive, edema, vitamin def (A, D, E, K)
salt loss syndromes in CF
acute salt depletion > chronic metabolic alkalosis
male GU in CF
obstructive azoospermia aka bilateral absence of vas deferens
3 key features CF
- lung infection
- meconium ileus
- malabsorption and avitaminosis from chronic pancreatitis and hepatic disease
congenital rubella syndrome
mom gets rubella in 1st trimester > transplacental infection but only 10% chance
-low birth weight + purpuric rash + microencephaly + heart defects like PDA + vision problems like cataracts
congenital syphilis
from Treponema pallidum crossing placenta in 5th month so easily preventable
-low SES
vesiculobullous rash highly infectious + hutchinson incisors (notches on biting surface, wide spaced) + mulberry molars + saber skin (sharp anterior bowing tibia)
neonatal sepsis
early onset: 0-7 days, from GBS, E. Coli, or klebsiella = pneumonia, meningitis
late onset: 8 days- 3 mo, staphs, HiB, listeria, chlamydia, mycoplasma, candida
ascending infection (vaginal delivery)
prematurity def
gestational age less than 38 weeks
-small weight (under 2500 g)
-thin skin
-reduced tone and activity
-extremities not flexed
APGAR scores
- color = all blue (0) blue extremities (1) no cyanosis (2)
- heart rate = absent (0) under 100 (1) over 100 (2)
- respiration = strong (2) weak/irreg (1) absent 0
- reflex = sneeze/cough/pull away (2) grimace or feeble cry 1
- muscle tone = active move (2) some flexion (1)
at 5 minutes if over 7 then fine
complications of prematurity
- hyaline membrane dz
- necortizing enterocolitis
- sepsis
- intraventricular hemorrhage
- developmental delay
villitis
lymphocytic infiltrate of chorionic villi
-recurrent miscarriage or FGR
-ascending infection
early onset sepsis risk factors
- previous infant with GBS
- GBS bacteriuria during preg
- delivery before 37 weeks (premature)
- ruptured membranes > 18 hours, inc risk for infection
- intrapartum temp above 38 deg, peripartum
neonatal pneumonia pathogenesis
neutrophils fill immature bronchioles
-as infant aspirates amniotic fluid into lungs
clinical prez RDS
respiratory distress syndrome
respir distress + cyanosis + hypoxemia + hypercarbia + acidosis (resp and meta)
histology shows dilated alveolar ducts with hyaline,
pathogenesis RDS
- dec surfactant synthesis, storage, release > dec alveolar surfactant = inc alveolar surface tension
- hypoxemia (from uneven perfusion) + CO2 retention (from hypoventilation)
- acidosis > pulmonary vasocontriction = hypoperfusion
- endothelial and epithelial damage = plasma leak into alveoli
- hyaline membrane (fibrin + necrotic cells)
cause of RDS
aka hyaline membrane dz
-lack pulmonary surfactant due to prematurity of lungs
-strong associated with maternal diabetes, C sections, male
pathologic features bronchopulmonary dysplasia
reduced total number alveoli + epithelial hyperplasia, squamous metaplasia + interstitial fibrosis
-sponge like lung with cobblestone exterior surface
neonates treated with oxygen therapy
name is deceiving no actual dysplasia
clinical prez fetal hydrops
hemolytic anemia (destruction of anti-D IgG RBC complex) + Hb degradation (lead to jaundice/hyperbilirubin and kernicterus)
-anemia leads to heart and liver failure, hydrops
-edema
pathologic features fetal hydrops
Mo is Rh D-, dad is Rh D+
-fetal RBC (D+) reach maternal circulation during last trimester or during delivery so barriers are gone
-anti D IgM produced at initial exposure in first pregnancy, baby is safe bc protected by placenta but future kids at risk bc IgG can cross
marker for congenital infantile fibrosarcoma
ETV6-TRKC
-can also mark secretory breast carcinoma, mesoblastic nephroma, acute myeloid leukemia
clinical prez teratoma
benign tumors @ sacrococcygeal region in females composed of all 3 germ layers
-most common solid tumors in newborns
-malignancy can happen in 12%
clinical prez necrotizing enterocolitis
distended intestine, friable, congested, dark red color
-bloody stool
-gas in bowel wall on radiograph
-perferation
-strictures
-circulatory collapse
pathologic features necrotizing enterocolitis
ischemia = focal to confluent areas of bowel necrosis, usually terminal ileum, cecum, right colon
clinical prez neuroblastoma
@ adrenal medulla or sympathetic ganglia
1. neonates show multi cutaneous metastases, blueberry muffin baby
2. under 2 show abdom mass + fever + weight loss
3. overe 2 show GI complaint + ascites + resp distress + bone pain
proptosis (forward displacement eye) and periorbital ecchymosis = metastasis
pathologic features neuroblastoma
malignant tumor of sympathetic cells
-small blue round cells with rosette structure + dense core of neurosecreotry granules
-inc catecholamines in blood and urine
-NSE in blood
N-myc oncogene
WT congenital malformations
wilms tumor
- WAGR syndrome- Germline Del 11p13 (WT1), genital anomalies, mental retardation, no iris
- Beckwith-Wiedemann syndrome (WT2 inactivation), organomegaly, adrenal cytomegaly
- Denys Drash syndrome (WT1 inactivatin), nephropathy, gonadal dysgenesis, gonadoblastoma
pathologic features of WT
inactivation of WT1 and WT2
-tightly packed blue cels with blastomal component + interspersed primitize tubules
-tan/gray color with well circumscribed margins
pathologic subtypes RMS
- embryonal RMS = good prognosis, sarcoma botryoides variant in holly mucosal lined strucutres
- alveolar RMS
- pleomorphic RMS = worst prognosis, predom adults, use myogenin IHC marker
clinical features FAS
growth retardatin + microcephaly + short palpebral fissures + maxillary hypoplasia + atrial septal defects
role of AFP for prenatal screening of NTD
opening in spinal cord or brain early in dev
-prevented by folic acid supplement
-AFP also marker for down syndrome, liver cancer
role of L/S ratio in amniotic fluid in assessing fetal lung maturity
lecithin -sphingomyelin ratio greater/equal to 2 = lung maturity and low risk for RDS
-under 1.5 high risk of RDS
clinical prez WT
abdom mass
hematuria
intestinal obstructin
fever
hypertension
