Pediatrics Flashcards
biliary atresia is complete _____ within the first 3 months of life
biliary atresia is complete obstruction of the lumen of the extrahepatic biliary tree within the first 3 months of life
in idiopathic neonatal hepatitis, there is ____ transformation, where some cells may show ____ and ____ degeneration
in idiopathic neonatal hepatitis, there is giant cell transformation, where some cells may show ballooning and acidophilic degeneration
“facial abnormalities, including Hutchinson teeth, saber shins”
dx?
Syphilis
patients with Wiskott Aldrich syndrome are at increased risk for which cancer?
lymphoma
describe a malformation
primary structural abnormality with poor formation of tissue d/t a localized error that occurs during development (intrinsically abnormal developmental process)
- polydactyly
- cleft lip
$$ “a child has epinephrine metabolites in lysosomes; what disease is this?”
Dubin-Johnson
in a patient with neuroblastoma, there are elevated blood levels of ____
and elevated urine levels of ____
in a patient with neuroblastoma, there are elevated blood levels of catecholamines
and elevated urine levels of catecholamine metabolites (VMA, HVA)
male CF patients are often infertile due to atrophy and fibrosis of the ___ and ____
male CF patients are often infertile due to atrophy and fibrosis of the vas deferens and epididymis
Klinefelter patients are prone to develop which 3 conditions?
breast cancer
extragonadal germ cell tumors
autoimmune diseases
40% of neuroblastomas arise in ____ whereas the remainder arise anywhere along ____
40% of neuroblastomas arise in the adrenal medulla whereas the remainder arise anywhere along the sympathetic chain
describe the manifestations of a congenital Rubella infection
diagnosis of neonatal necrotizing enterocolitis is by abdominal radiographs that show ____ and _____
diagnosis of neonatal necrotizing enterocolitis is by abdominal radiographs that show dilated loops of bowel and pneumatosis intestinalis (presence of air bubbles in wall of intestines)
Rotor syndrome is due to a defect in ____ with the bilirubin being absorbed ____
Rotor syndrome is due to a defect in the excretion of conjugated bilirubin into the biliary canaliculi with the bilirubin being absorbed into the blood
_____ is the most common cause of deformation
uterine constraint is the most common cause of deformation
galactosemia can progress to ____
galactosemia can progress to cirrhosis
describe a disruption
caused by secondary destruction of a previously normally formed part d/t an extrinsic disturbance
-amniotic bands
retinoblastoma can extend into ___ nerve and/or ____ space (___) with intracranial spread
retinoblastoma can extend into optic nerve and/or subarachnoid space (CSF) with intracranial spread
in respiratory distress syndrome, a typical x-ray image would show ____
in respiratory distress syndrome, a typical x-ray image would show ground glass alterations of the lung
describe 2 complications of oxygen therapy in neonates with RDS
- retrolental fibroplasia = retinopathy of d/t O2 toxicity & VEGF
- bronchopulmonary dysplasia = arrested development of alveolar septation at saccular stage of development → dysmorphic capillary configuration
____ is swelling of the infant’s scalp
caput succedaneum is swelling of the infant’s scalp
____ can be used to detect high levels of bilirubin
amniocentesis can be used to detect high levels of bilirubin
Down syndrome patients have a higher risk of ____ and ____
Down syndrome patients have a higher risk of ALL and Alzheimers
list the clinical features of Turner syndrome
nephroblastomas are associated with ____ syndrome, which is a deletion of ___ gene
nephroblastomas are associated with WAGR syndrome, which is a deletion of WT1 gene
in perinatal biliary atresia, there is ___ inflammation of intrahepatic bile ducts and progressive destruction of ____
in perinatal biliary atresia, there is periductal inflammation of intrahepatic bile ducts and progressive destruction of intrahepatic biliary tree
in perinatal biliary atresia, there is inflammation and ___ of the ___ and ___ bile ducts
in perinatal biliary atresia, there is inflammation and fibrosing stricture of the hepatic and common bile ducts
____ is the most common chromosomal disorder
Down syndrome (trisomy 21) is the most common chromosomal disorder
$$ how do infants contract Gonorrhea?
through the birth canal
$$ “baby born with Rubella; how did this spread?”
hematogenous dissemination from the placenta
describe the triphasic pattern of Wilm’s tumor
blastema = sheets of small round blue cells
stroma = fibrocytic or myxoid in nature, may have striated muscle
epithelium = abortive tubules and glomeruli
on histology of retinoblastoma, there are ____ which are clusters of cuboidal tumor cells arranged around a central lumen
on histology of retinoblastoma, there are Flexner-Wintersteiner rosettes (TRUE rosettes) which are clusters of cuboidal tumor cells arranged around a central lumen
pediatric patients with agammaglobulinemia are at increased risk for which cancer?
acute lymphoblastic leukemia (ALL)
a frequent complication of retinoblastoma is _____
a frequent complication of retinoblastoma is secondary glaucoma
____ are associated with Beckwith-Wiedemann syndrome which is caused by a mutation of ____ gene
nephroblastomas are associated with Beckwith-Wiedemann syndrome which is caused by a mutation of WT2 gene
list the early complications of neonatal necrotizing enterocolitis
sepsis
shock
acute tubular necrosis
DIC
intestinal perforation
PKU is caused by a ___ mutation in the ___ gene located on chr. ____
PKU is caused by a point mutation in the PAH gene located on chr. 12
in inherited retinoblastomas, patients have an increased susceptibility to which 3 other tumors?
osteosarcoma
Ewing sarcoma/PNET
pinealoblastoma
list the 2 cardiovascular malformations seen in Turner syndrome patients
coarctation of the aorta
bicuspid aortic valve
respiratory distress syndrome (RDS) occurs due to decreased ____
respiratory distress syndrome (RDS) occurs due to decreased surfactant
____ can mimic homeobox gene defects
valproic acid can mimic homeobox gene defects
idiopathic neonatal hepatitis excludes which 3 known associated factors?
A1AT def.
extrahepatic biliary atresia
infectious agents (HAV, HBV, HCV)
list the clinical features of Klinefelter syndrome
in long term survivors of neonatal intraventricular hemorrhage, there are cavitations or ___ surrounded by ____
in long-term survivors of neonatal intraventricular hemorrhage, there are cavitations or pseudocysts surrounded by hemosiderin-laden macrophages and gliosis
what are 2 clinical clues in a child that suggest cystic fibrosis?
nasal polyps
rectal prolapse
galactosemia is an autosomal (dominant or recessive?) condition where there is deficiency of ____
galactosemia is an autosomal recessive condition where there is deficiency of galactose-1-phosphate uridyl transferase (which catalyzes galactose → glucose)
recurrent pulmonary infections in CF can result in which 3 pulmonary conditions?
chronic bronchitis
bronchiectasis
lung abscesses
the 1-minute APGAR score determines ____
while
the 5-minute APGAR score assess _____
the 1-minute APGAR score determines how well the baby tolerated the birthing process
while
the 5-minute APGAR score assesses how well the newborn is adapting to the new environment
Down syndrome patients are at increased risk for which cancer?
acute leukemia
list poor prognostic indicators in neuroblastoma
poor prognostic indicators:
MYCN amplification
deletion distal 1p and gain of distal 17q
telomerase overexpression
PDA, cataracts, microcephaly and sensory neural deafness
dx?
Rubella
“encephalopathy, retinopathy, hydrocephalus”
dx?
Toxoplasmosis
on microscopic examination of Dubin-Johnson syndrome, there is accumulation of coarse, iron free, ____ granules in ____ and ____ cells
on microscopic examination of Dubin-Johnson syndrome, there is accumulation of coarse, iron free, dark brown granules in hepatocytes and Kupffer cells
the hyperphenylalaninemia seen in PKU interferes with ____ and inhibits _____
the hyperphenylalaninemia seen in PKU interferes with amino acid transport system in the brain and inhibits the synthesis of neurotransmitters
a 13q deletion predisposes children to which cancer?
retinoblastoma
nephroblastomas can be caused by mutations in ____ gene which accounts for 10% of the sporadic cases
nephroblastomas can be caused by mutations in B-catenin gene which accounts for 10% of the sporadic cases
____ is seen in survivors of neonatal intraventricular hemorrhage
hydrocephalus is seen in survivors of neonatal intraventricular hemorrhage
_____ has a strong influence on the incidence of Down syndrome
maternal age has a strong influence on the incidence of Down syndrome
kernicterus occurs when high levels of ___ bind to and injury _____
kernicterus occurs when high levels of unconjugated bilirubin bind to and injury the immature neurons of the CNS
on electron microscopy in Dubin-Johnson syndrome, there is pigmented in ____ and is composed of polymers of ____
on electron microscopy in Dubin-Johnson syndrome, there is pigmented in lysosomes and is composed of polymers of epinephrine metabolites, not bilirubin pigment
microscopic examination of the bowel in neonatal necrotizing enterocolitis would show ____
microscopic examination of the bowel in neonatal necrotizing enterocolitis would show mucosal coagulative necrosis extending into and often through the submucosa and muscular layers
list the delayed complications of neonatal necrotizing enterocolitis
short gut syndrome
malabsorption
strictures
how does SIDS affect the lungs?
congestion +/- pulmonary edema
describe fetal infections acquired via the hematogenous route
in neonatal intraventricular hemorrhage, there is rapid death if there is massive hemorrhage with tears of ____
in neonatal intraventricular hemorrhage, there is rapid death if there is massive hemorrhage with tears of falx cerebri or tentorium
neuroblastoma is a poorly differentiated tumor arising from primitive ____ that normally give rise to the ____ and ____
neuroblastoma is a poorly differentiated tumor arising from primitive neural crest cells that normally give rise to the adrenal medulla and sympathetic ganglia
describe the triple-risk model for SIDS
- vulnerable infant (has a RF)
- critical development period in hemostatic control (arousal and cardiorespiratory)
- one or more exogenous stressors (hypercarbia/hypoxia/thermal stress)
nephroblastoma is a malignant embryonal neoplasm derived from ____
nephroblastoma is a malignant embryonal neoplasm derived from nephrogenic blastemal cells
in SIDS, there is hypoplasia of ____ along with decrease in _____ in some cases
in SIDS, there is hypoplasia of arcuate nucleus in the brain stem along with decrease in brain stem neuronal populations in some cases
list common presentations of Wilm’s tumor
abdominal pain
hematuria
HTN
acute abdominal crisis secondary to traumatic rupture
describe ascending infections that affect the fetus
neuroblastoma stains positively for ___ and ____
neuroblastoma stains positively for neuron-specific enolase and synaptophysin
there is elevated ____ bilirubin during the first week of life
there is elevated unconjugated bilirubin during the first week of life
Dubin-Johnson syndrome is characterized by defective ____ from ___ to ____
Dubin-Johnson syndrome is characterized by defective transport of conjugated bilirubin from hepatocytes to canalicular lumen
describe a sequence
multiple congenital anomalies that result from secondary effects of a single localized aberration in organogenesis
ex: Potter sequence (oligohydramnios sequence)
cystic fibrosis is caused by a mutation in ___ on chr. ____
cystic fibrosis is caused by a mutation in CFTR on chr. 7
embryonic/fetal type of biliary atresia is due to aberrant _____
perinatal type of biliary atresia is due to _____
embryonic/fetal type of biliary atresia is due to aberrant intrauterine development of the extrahepatic biliary tree
perinatal type of biliary atresia is due to normally developed biliary tress that is destroyed following birth (viral induced injury to biliary epi.)
most pediatric tumors have a ____ appearance since they are of ____ origin
most pediatric tumors have a “small, round blue cells” appearance since they are of embryonal origin
retinoblastomas can invade ___ especially the highly vascular ____ with subsequent ____ metastases
retinoblastomas can invade blood vessels especially the highly vascular choroid with subsequent hematogenous metastases
describe the pattern of metastasis of Wilm’s tumor
“3 L’s”
-regional LNs
-lungs
-liver
nephroblastomas are associated with ____ which is a dominant, negative inactivating mutation of ____
nephroblastomas are associated with Denys-Drash syndrome which is a dominant, negative inactivating mutation of WT1
describe the 2 phases of physiological jaundice
-
phase I = lasts 5 days in term infants and 7 days in preterm infants
- serum bilirubin level may reach 12-15 mg/dl
-
phase II = decline of serum bilirubin levels, lasts for 2 weeks
- after this, normal adults values are reached
____ is caused by disseminated neuroblastoma (multiple cutaneous metastasis with deep blue discoloration of the skin)
blueberry muffin baby is caused by disseminated neuroblastoma (multiple cutaneous metastasis with deep blue discoloration of the skin)
$$ “baby with necrotizing enterocolitis; what is a risk factor for this?”
low birth weight of baby
list the top cause of death for children 1-14
accidents
list risk factors for respiratory distress syndrome
- prematurity
- perinatal asphyxia
- maternal diabetes
- Cesarean section before onset of labor
- twin gestation
- male sex
Crigler-Najjar type II disease is characterized by ____ of UDP-glucuronosyltransferase activity and can be treated with ____
Crigler-Najjar type II disease is characterized by partial decrease of UDP-glucuronosyltransferase activity and can be treated with phenobarbital
list methods to prevent respiratory distress syndrome
phenylketonuria is characterized by progressive ___ caused by a deficiency of the hepatic enzyme ____
phenylketonuria is characterized by progressive mental retardation caused by a deficiency of the hepatic enzyme phenylalanine hydroxylase
homeobox gene defect causes ___, ___ and ____ abnormalities
homeobox gene defect causes limb, vertebral and craniofacial abnormalities
a defect in Sonic Hedgehog Gene (SHH) causes ____
a defect in Sonic Hedgehog Gene (SHH) causes holoprosencephaly
erythroblastosis fetalis is ___-induced hemolytic disease in the newborn that is caused by ____
erythroblastosis fetalis is antibody-induced hemolytic disease in the newborn that is caused by blood group incompatibility between mother and fetus
Crigler-Najjar type I disease is characterized by ____ of UDP-glucuronosyltransferase activity
Crigler-Najjar type I disease is characterized by complete absence of UDP-glucuronosyltransferase activity
the embryonic/fetal type of biliary atresia is associated with congenital anomalies such as ____ and ____
the embryonic/fetal type of biliary atresia is associated with congenital anomalies such as malrotation of abdominal viscera and congenital heart disease
list 3 methods to prevent bronchopulmonary dysplasia
gentler ventilation
glucocorticoids
prophylactic surfactant
x-ray or CT of the abdomen in a patient with neuroblastoma would show ____
x-ray or CT of the abdomen in a patient with neuroblastoma would show calcification
____ amplification in neuroblastoma has a poor prognosis
MYCN amplification in neuroblastoma has a poor prognosis
____ is the most commonly fractured bone during labor
the clavicle is the most commonly fractured bone during labor
a germline mutation in ____ gene causes a familial predisposition to neuroblastoma
a germline mutation in ALK gene causes a familial predisposition to neuroblastoma
in neonatal intraventricular hemorrhage, there is bleeding into ____
in neonatal intraventricular hemorrhage, there is bleeding into the germinal matrix with extension into ventricles and beyond
germinal matrix = source of nerve cells in embryo and fetus (up to 33 weeks of gestation)
why do children generally have a better prognosis than adults when it comes to cancers? (2 reasons)
difference in tumor type between children and adults
increased ability of children to tolerate therapy
in galactosemia, infants that are fed milk rapidly develop vomiting and diarrhea, then ____, ____ and ____
in galactosemia, infants that are fed milk rapidly develop vomiting and diarrhea, then hepatosplenomegaly, jaundice and hypoglycemia
____ is the most common cause of hypogonadism in males
Klinefelter syndrome is the most common cause of hypogonadism in males
Turner syndrome occurs due to partial or complete ____
Turner syndrome occurs due to partial or complete monosomy of genes on the short arm of the X chromosome
there is a ____ odor associated with PKU
there is a mousy/musty odor associated with PKU
list the top cause of deaths for children under 1 year
congenital malformation, deformations, chromosomal abnormalities
environmental risk factors for SIDS is ____ sleep position; name 3 other RFs
environmental risk factors for SIDS is prone sleep position
- hyperthermia
- sleeping with parents when < 3 months
- sleeping on a soft surface
in erythroblastosis fetalis, ____ reach maternal circulation in last trimester or during childbirth, where there is sensitization of mother foreign antigens and subsequent development of ____
in erythroblastosis fetalis, fetal RBCs reach maternal circulation in last trimester or during childbirth, where there is sensitization of mother foreign antigens and subsequent development of antibodies that can freely traverse the placenta to the fetus and cause hemolysis
Dubin-Johnson syndrome is an autosomal (dominant or recessive?) disorder characterized by chronic or intermittent jaundice and accompanied by a _____
Dubin-Johnson syndrome is an autosomal recessive disorder characterized by chronic or intermittent jaundice and accompanied by a black liver
___ causes CNS, cardiac and craniofacial abnormalities including cleft lip and palate
retinoic acid (for acne) causes CNS, cardiac and craniofacial abnormalities including cleft lip and palate
a complication of galactosemia is ___ and ____
a complication of galactosemia is cataracts and mental retardation
describe the correlation between APGAR score and mortality during the first 28 days
in neuroblastoma, increased expression of ____ indicates good prognosis
in neuroblastoma, increased expression of tyrosine kinase receptor A (Trk-A, neurotrophin receptor) indicates good prognosis
in CF patients, ____ occurs due to impaction of ___ in the terminal ileus with subsequent risk of perforation and peritonitis
in CF patients, meconium ileus occurs due to impaction of meconium in the terminal ileus with subsequent risk of perforation and peritonitis
describe 22q11.2 deletion syndrome
list predisposing factors for neonatal necrotizing enterocolitis (NEC)
intestinal ischemia
bacterial colonization of the gut
administration of formula feeds
retinoic acid interferes with ____ pathway which is involved in ____
retinoic acid interferes with TGFB signaling pathway which is involved in palatogenesis
describe the presentation of retinoblastoma
white pupil = leukocoria
squint = strabismus
poor vision
spontaneous hyphema = hemorrhage into the anterior portion of the eye
neuroblastoma can metastasize early, with spread to:
bone
lymph nodes
liver
BM
subcutaneous tissue
in SIDS, multiple ____ are seen in which 3 locations?
in SIDS, multiple petechiae are seen in:
thymus
visceral/parietal pleura
epicardium
describe the clinical features in Down syndrome
on histology of neuroblastoma, there are ____ which are tumor cells that are concentrically arranged about a central space filled with neuropil (no lumen)
on histology of neuroblastoma, there are Homer-Wright pseudorosettes which are tumor cells that are concentrically arranged about a central space filled with neuropil (no lumen)
deficiency of phenylalanine hydroxylase results in ____ and formation of ____; of the 2 ____ causes irreversible brain damage
deficiency of phenylalanine hydroxylase results in hyperphenylalaninemia and formation of phenylketones; of the 2 hyperphenylalaninemia causes irreversible brain damage
describe deformation
name maternal and fetal examples
localized or generalized compression of the growing fetus by abnormal biomechanical forces
in Dubin-Johnson syndrome, there is an associated defect in hepatic excretion of ____
in Dubin-Johnson syndrome, there is an associated defect in hepatic excretion of coproporphyrins
the most common cause of unconjugated hyperbilirubinemia in neonates is ____
the most common cause of unconjugated hyperbilirubinemia in neonates is fetomaternal blood group incompatibility (hemolytic disease of newborn)
a risk factor for SIDS in an infant is ___ abnormality associated with defective ____/____ control
a risk factor for SIDS in an infant is brainstem abnormality associated with defective arousal/cardiopulmonary control
neonatal necrotizing enterocolitis commonly affects which 3 areas?
terminal ileum
cecum
right colon
