Pediatric Path and Lab

Question 1

What are the top 4 causes of death for infants (<1yr) from most to least common?

Answer 1

congenital anomaly, prematurity, SUID/SIDS, maternal pregnancy complications

Question 2

What are the top 4 causes of death for children (1-4yr) from most to least common?

Answer 2

accidents and adverse events, congenital anomaly, malignancy, homicide

Question 3

What are the top 4 causes of death for children (5-14yr) from most to least common?

Answer 3

accidents and adverse events, malignancy, homicide, congenital anomaly

Question 4

What are the top 4 causes of death for teens (15-19yr) from most to least common?

Answer 4

accidents and adverse events, homicide, suicide, and malignancy

Question 5

What are congenital anomalies? What are the many causes?

Answer 5

morphological defects present at birth, because born with defect does not imply nor exclude a genetic basis for birth defect; malformation, deformation, disruption, syndrome, and sequence

Question 6

What is malformation and the causes?

Answer 6

intrinsic abnormality, multifactorial- genetic aberrations, early teratogens, infections (CMV, syphilis), and maternal disease

Question 7

What is a deformation and the causes?

Answer 7

extrinsic abnormality, mechanical factors, localized or generalized compression of growing fetus, ex- uterine constraint due to leiomyoma or oligohydramnios

Question 8

what is a disruption? example?

Answer 8

destruction of previously formed normal structures, amniotic band amputating a digit

Question 9

What is a syndrome? cause? examples?

Answer 9

constellation of multiple anomalies secondary to an underlying cause, may be caused by a genetic or infectious process which affects multiple tissues, trisomy 21 or rubella

Question 10

What is a sequence? Examples?

Answer 10

anomalies triggered by one aberration, oligohydraminos/potter sequence

Question 11

What are the features of trisomy 21?

Answer 11

karyotype (wk) and FISH (day), most common of all age-related chromosomal abnormalities, risk at 35 yrs 1/270, 40 yr 1/335 and 45 1/50, life span long, variable mental retardation, quad screen- prenatal detection

Question 12

What are the features of trisomy 18?

Answer 12

not compatible with life, most succumb in first few weeks fo life, mental retardation, congenital heart defects, renal defects, overlapping digits (2nd over 3rd, 5th over 4th), rocker bottom feet deep space btwn 1st and 2nd toe, horseshoe kidney- fusion of inferior poles of kidneys

Question 13

What is gastroshisis?

Answer 13

paraumbilical wall defect, bowel loops eviscerate through opening, normal umbilical cord insertion (on side of defect), no associated congenital anomalies

Question 14

What is an omphalocele?

Answer 14

defect at insertion of umbilical cord, cords through and on top, intestine out but still in membrane sack, muscle, fascia and skin absent at defect, 30-50% infants have other major congenital anomalies

Question 15

what are the features of an infant with large for gestational age?

Answer 15

common with diabetic mom, difficult delivery/injuries due to infant size, congenital anomalies- congenital heart disease or VSD, kidney, and CNS defects; hypoglycemia with hyperinsulinemia, >90%tile

Question 16

What is SUID? features?

Answer 16

sudden unexplained infant death includes: SIDS, other sleep-related infants death due to unknown cases, sleep-related deaths due to accidental suffocation and strangulation in bed, scene investigation very important

Question 17

what are the features of SIDS?

Answer 17

sudden death of an infant under one year of age which remains unexplained after thorough investigation, complete autopsy, gross and microscopic exam, cytogenic and metabolic studies, 85% btwn 2-4 months, devastating for entire family

Question 18

What things help prevent or reduce the risk of SIDS?

Answer 18

breast feeding, immunizations (50% reduction), cribs- nothing but baby, no bumper pads,

Question 19

What is IUGR? 3 general categories?

Answer 19

infant born at TERM and <2500 g, 7-15% stillborn infants, possible drug induced extremity anomalies; fetal (chromosomal congenital anomalies or congenital infection), placental (infection, placenta previa), and maternal (drug or alcohol, smoking, preeclampsia/eclampsia, HTN, maternal malnutrition, chronic illness)

Question 20

What are the features of the placenta?

Answer 20

umbilical cord (3 vessels, twists and knots, too much or too little, watch length of cords), membrane where ruptured when delivered

Question 21

What are the features of vasculosyncytial membrane?

Answer 21

allows diffusion of gases and nutrients btwn fetal and maternal systems

Question 22

What are the features of CMV in pregnancy?

Answer 22

inclusions in placenta, spread by intrauterine transmission, mother’s milk, respiratory droplets, blood transfusions, newborns commonly infected 3-4K per year, 90% have no sequelae, cause of 25% of congenital hearing loss

Question 23

What are the torch infections?

Answer 23

toxoplasmosis, other bacteria and viruses, rubella, CMV, and HSV

Question 24

What are the affects of CMV?

Answer 24

stillbirth, IUGR, extensive brain damage (intracranial calcification), cataracts, cardiac anomalies, deafness; newborn may have- fever, encephalitis, chorioretinitis, hepatosplenomegaly, pneumonitis, myocarditis, hemolytic anemia, skin lesions

Question 25

What maternal conditions are looked for on placental exam?

Answer 25

diabetes, HTN disorders (pre-eclampsia/eclampsia), fever, TORCH infection

Question 26

What newborn conditions are looked for on placental exam?

Answer 26

still born (autopsy and placental exam improves ID of etiology of stillborn), congenital anomalies, perinatal distress/illness/poor APGAR scores, multiple pregnancy, IUGR, and hydrops

Question 27

What placental conditions are looked for on placental exam?

Answer 27

abruption, infarction, placental masses, abnormal cord, vasa previa, calcifications

Question 28

What is tested on the APGAR? What makes up the score?

Answer 28

HR (0=absent, 1100), RR (0=absent, 1=slow, 2=good), Muscle tone (0=limp, 1=flexion, 2=active), Nasal Stimulus (0=NR, 1= Grimace, 2=cough), and Color (0=blue, 1=body pink, 2=all pink)

Question 29

What is the function of the APGAR?

Answer 29

predictor of perinatal mortality, score 0-1 = 50% mortality, score 4= 20% mortality, score > or =7 = 0% mortality

Question 30

What is the criteria for a disease to be on the newborn screening?

Answer 30

disorder can be identified at a phase (24-48 hrs after birth) during which it would not ordinarily be clinically detectable, screening test is available with appropriate sensitivity and specificity, and demonstrated benefits of early detection, timely intervention and efficacious treatment of disorder

Question 31

Metabolic disorders, inborn errors of metabolism are caused by what? diagnosed?

Answer 31

caused by mutations that impair the function of biochemical pathways, diagnosed by quantifying the substrates, canonical products or alternative products in body fluids or tissue or by measuring specific enzymes

Question 32

what is the clinical presentation of metabolic disorders?

Answer 32

failure to thrive, hypoglycemia, signs of sepsis, asphyxia, positive family history, acute severe multiorgan system illness, unexplained death

Question 33

What are the clinical effects of metabolic disorders if not treated?

Answer 33

MR, seizures, deafness, blindness, growth retardation, developmental delays

Question 34

What are the features of hearing screening?

Answer 34

essential preventive public health, prerequisite for population screen, sufficiently frequent in screened population, serious w/o intervention, treatable,

Question 35

What is the prevalence of hearing loss?

Answer 35

1/2000 to 1/1000 kids born to profound hearing loss, >/= 50% of prelingual hearing loss (before developmental language) is genetic, >/= 50% due to environment, 90% have parents with normal hearing

Question 36

What are the clinical and lab features of cystic fibrosis?

Answer 36

PE- slnder, nasal stuffiness, rales, sweat chloride test (pilocarpine, measurement disc, normal <40), blood test for CF gene mutation (delta F508 most common but not all)

Question 37

What is cystic fibrosis?

Answer 37

metabolic disorder characterized by steatorrhea and malnutrition, autosomal recessive, 1000 new cases/year, >70% of pts diagnosed by age 2

Question 38

What are the diagnostic features of cystic fibrosis?

Answer 38

one of these: >1 phenotypic characteristic, CF in sibling, or positive NB screening test; plus one of these: lab evidence of CFTR abnormality: elevated sweat Cl test on 2 occasions, or 2 CFTR mutations associated with CF, or in vivo demo of abnormal ion transport across nasal epithelium

Question 39

What are the cystic fibrosis genetic features?

Answer 39

CFTR located on chromosome 7q31.2, >1000 mutations Identified, Delta F508 most common

Question 40

What are the features of Hirschsprung’s?

Answer 40

1 mo infant presents with constipation, PE- abdomen soft and distended, upon rectal exam infant defecates, x-ray- plain film and barium enema, diagnostic rectal suction biopsy, primary laprascopic pull-through with resection of anganglionic segment

Question 41

What is Hirschpsrung’s disease? Epidemiology?

Answer 41

absence of submucosal and myenteric ganglion cells, 75% of cases segment limited to rectal and distal sigmoid colon, 1 in 5K live births, 3/4 males, 1/3 cases present in first month of life, associated with downs, colonic atresia, and rarely congential heart disease, GU abnormalities

Question 42

What is a hemagnioma?

Answer 42

vascular lesions comprise over 2/3 all soft tissue tumors and tumor like conditions in infants and children, may remain original size, grow with infant or more rapidly, nothing but watchful waiting

Question 43

What is a teratoma? Classifications of germ cell neoplasms?

Answer 43

germ cell neoplasm containing all 3 embryonic cell types; benign- mature teratoma, gonadoblastoma, indeterminate- immature teratoma, malignant- germinoma, yolk sac tumor, embryonal carcinoma, choriocarcinoma, malignant mixed GCT

Question 44

What are the features of infantile germ cell neoplasms?

Answer 44

treatoma or YST, no malignant elements, mature teratomas don’t metastasize , extragonadal common, testicular seminoma rare

Question 45

What are the features of adult germ cell neoplasms?

Answer 45

mixed GCT or seminoma/dysgerminoma, malignant elements, mature teratomas may metastasize, extragonadal tumors uncommon, testicular tumors (seminoma) common

Question 46

What are the top pediatric cancers?

Answer 46

leukemia, CNS tumors, lymphoma, neuroblastoma, rhabdomyosarcoma, Wilm’s tumor

Question 47

What are the cancers associated with small round blue cell tumors?

Answer 47

leukemia, lymphoma, Wilm’s tumor, neuroblastoma, peripheral primitive neuroectodermal tumor (ewings sarcoma), rhabdomyosarcoma, and medulloblastoma

Question 48

How are small blue cell tumor specimen triage?

Answer 48

H&E and special staining, snap freeze- frozen tumor for RT-PCR, biology studies, touch preps- cytology and FISH, cytogenic media- standard chromosomes & PCR, and EM fixative (ultrastructural analysis)