Peds Neuro uworld Flashcards
TF
Pulling to stand and cruising along furniture are gross motor milestones, and scribbling and removing some clothing are fine motor milestones at 18mos
F
18 mos should be walking without support, running, kicking and throwing balls
T
scribbling and removing some clothing are fine motor milestones at 18mos
Vocabulary amd speech of an 18 month old
10-25 word vocab with lots of babbling
Family can understand most pf speech but otherd may not
10-25 word vocab with lots of babbling
Family can understand most pf speech but otherd may not
How old?
18 mos
TF
Pretend play and stranger danger are healthy normal in a 18mo
T
when does cephalohematoma present
not till several hours after birth because subperiosteal bleeding is slow
manage neonate cephalohematoma
most sponeneously resorb in 2wks-3mos depending on size, no treatment necessary
rarely phototherapy for hyperbilirubinemia
diffuse sometimes ecchymotic swellin go scalp usually involving the presenting portion of head in vertex delivery, may extend across suture lines and midline
caput succedaneum
depressed skull fracture in neonate usually due to…
complication of forceps delivery or fetal head compression
3 pathognomonic facial dysmorphisms of fetal alcohol syndrome
+ 1 other one ish…
small palpebral fissures
smooth filtrum
thin vermilion border
microcephaly often… but not pathognomonic and not a “facial dysmorphism”
phenotypic range of neurodevelopental abnormalities in fetal alcohol syndrome
how to manage
intellectual disability
adhd
social withdrawal
motor and language delays
early dx and aggressive speech phycsical and occupational therapy
FAS vs Downs vs Fragile X
key physical findings
FAS - MICROcephaly, SMALL palpebral fissures, smooth philtrum, thin vermillion border
Downs - flat face, SLANTED palpebral fissures, small low set ears… excessive skin at nape of neck, simian crease, clinodactyly, large space between first and second toes
Fragile X - MACROcephaly, long narrow face, prominent forehead and chin, large ears… macroorchidism
define clinodactyly
congenital curving/bending in of fingers
tf
congenital cmv can cause developmental delay
t
and sensorineural deafness, blindness, jaundice, hepatosplenomegaly, petechiae
the most common congenital viral infection
sequelae
CMV is most common congenital virus
developmental delay, sensorineural deafness, blindness, jaundice, hepatosplenomegaly, petechiae
fetal hydantoin syndrome
aka
pathogenesis
classic physical findings
aka fetal dilantin syndrome
pregnant woman taking phenytoin (dilantin) or carbamazepine during last trimester
hypoplastic fingers/nails
cleft lip/palate
pregnant women on phenytoin in their lst trimester often receive prophylactic….
vitamin K
because phenytoin may increase rate of fetal vitamin K degradation
most common extracranial solid tumor of childhood median age of diagnosis embryonic origin location mass consistency on exam xr and ct findings % with mets on presentation most common sites for mets key labs do they present with fainting, sweating, palpitations, hypertension like pheochromocytoma? prognosis depends on...
neuroblastoma
2yo
neural crest cells
paravertebral sympathetic chain and adrenal medulla (most commonly in the abdomen)
firm and nodular on exam
calcifications and hemorrhages on imaging
70% with mets on presentation
mets to bone, liver, lymph nodes, skin
serum and urine HVA and VMA
no pheochromocytoma symptoms…
prognosis depends on clinical factors, tumor histology, genetic characteristics (N-myc proto-oncogene amplification, hyperdiploidy)
embryologic origin of Wilm’s tumor
metanephros (renal parenchyma)
embryologic origin of seminal vesicles, epididymis, ejaculatory ducts, ductus deferens
mesonephros
embryologic origin of fallopian tubes, uterus, and part of vagina
paramesonephros
embryologic origin of
- renal parenchyma
- seminal vesicles, epididymis, ejaculatory ducts, ductus deferens
- fallopian tubes, uterus, and part of vagina
- renal parenchyma METAnepros
- seminal vesicles, epididymis, ejaculatory ducts, ductus deferens MESOnephros
- fallopian tubes, uterus, and part of vagina PARAMESOnephros
3 most common cancers in peds
leukemia
cns tumors
neuroblastoma (#1 extracranial)
Cafe au lait, macrocephaly, feeding problems, developmental delay, short stature, later fibromas or neurofibromas or other tumors
Top dx
Neurofibromatosis type 1
Classic features of neurofibromatosis type 2
Bilateral acoustic neuromas and cataracts
Self-mutilation with dystonia is characteristic of
Inheritance
Pathogenesis
Pres
Progression
Treatment
Self-mutilation with dystonia is characteristic of Lesch Nyan Syndrome
Inheritance X linked Recessive (boys club)
Pathogenesis HGPRT hypoxanthine glutathione phosphoribosyl transferase mut purine synthesis defect, uric acid accumulation in peripherral tissues
Pres 6 mos old hypotonia and persistent vomiting
Progression progressive mental retardation, choreoatheosis spasticity dystonia dysarthric speech, compulsive self-injury… urate gouty arthritis and tophi, obstructive uropathy
Treatment allopurinol to reduce urate concs, advise hydration
See peds pt with gout, suspect
inheritance
Pathogenesis
Pres
Progression
Treatment
Lesch Nyan (normal gout usually over age 50)
Inheritance X linked Recessive (boys club)
Pathogenesis HGPRT hypoxanthine glutathione phosphoribosyl transferase mut purine synthesis defect, uric acid accumulation in peripherral tissues
Pres 6 mos old hypotonia and persistent vomiting
Progression progressive mental retardation, choreoatheosis spasticity dystonia dysarthric speech, compulsive self-injury… urate gouty arthritis and tophi, obstructive uropathy
Treatment allopurinol to reduce urate concs, advise hydration
