neuro/developmental 6% Flashcards
what causes turners syndrome
female w absent/nonfunctional X
XO
what are the systems that turners syndrome affects + how
reproductive- fibrosed ovaries or early ovarian failure
CV- mitral prolapse, bicuspid aortic valves, aortic dissection, HTN, coarctation
renal- congenital issues (horseshoe kidney), hydronephrosis
endocrine- osteoporosis, hypoT, DM, dyslipidemias
GI- telangiectasis, IBD, colon cancer, liver dz
what is the presentation of a pt w turners syndrome
amenorrhea, short stature, delayed puberty
webbed neck, low set ears, widely spaced nipples
high arched palate, nail dysplasia
what tests can be done to dx turners syndrome
high serum FSH + LH
karyotype = definitive
tx of turner syndrome
growth hormone replacement
estrogen/progesterone replacement for puberty
what is klinefelter’s syndrome caused by
male w extra Y
XYY
presentation of pt w klinefelters
male w hypogonadism + small testes–> infertile, gynecomastia, scarce pubic hair
normal before puberty –> tall, obese +/- scoliosis. ataxia, mild developmental delays, expressive language disorders
what tests can be done to dx klinefelters
serum testosterone = low
karyotype = definitive
what is fragile X syndrome
x-linked disorder in males
what is the presentation of fragile x syndrome
young males- mitral prolapse, hyperextensible joints, hypotonia, soft skin, flexible flat feet, macrocephaly
older males- long + narrow face, prominent forehead + chin, large ears, macroorchidism
expressive > receptive language deficits
what is down syndrome
trisomy 21
what are brushfield spots
white/gray/brown spots on iris seen in down syndrome
how does a neonate with down syndrome present
poor moro reflex dysplasia of pelvis hypotonia anomalous ears transient neonatal leukemia
what heart issues are associated w down syndrome
AV septal defects, VSD, ASD, TOF, PDA
what GI issues are associated w down syndrome
duodenal atresia/stenosis
hirschsprung disease
what is ehlers danlos syndrome
disorder of collagen synthesis
what is a common COD of pts w ehlers danlos syndrome
aneurysm rupture
how does ehlers danlos syndrome present
skin hyperextensibility (inc w age) fragile conn tissue- mitral prolapse, smooth/doughy fragile skin, bruises easily, Metenier's sign joint hypermobility- dislocations, subluxations, pes planus, pectus excavatum, myopia
what is meteniers sign
easy to evert upper eyelid- in ehlers danlos syndrome
what is marfan syndrome
autosomal dominant conn tissue disease –> weak conn tissues –> cardio, ocular + msk findings
what cardio consequences does marfan syndrome have
mitral valve prolapse, progressive aortic root dilation –> aortic regurg, dissection + aneurysm
what MSK consequences does marfan syndrome have
tall, pectus carinatum (pigeon chest), arachnodactyly (long lanky fingers, arms, and legs), scoliosis, spontaneous PTX, joint laxity
what ocular consequences does marfan syndrome have
ectopia lentis (malposition of lens) –> reduced vision + myopia (extreme nearsightedness)
what is seen on exam in pt w FAS
microcephaly thin upper lip long + smooth philtrum small palpebral fissures small distal phalanges
what causes neural tube defects
maternal folate deficiency
what is ancephaly
failure of closure of portion of neural tube that becomes cerebrum
what is spina bifida
incomplete closure of embryonic neural tube –> nonfusion of some vertebrae –> protrusion of spinal cord
where is spina bifida MC
lumbar + sacral cord
what are the 3 types of spina bifida from least to most severe
occulta- no herniation of spinal cord, overlying skin has hair, dimpling or birthmark
w/ meningocele- only meninges herniates
w/ myelomeningocele- meninges + spinal cord herniate
what is the MC type of spina bifida
w myelomeningocele
how can you dx neural tube defects
inc maternal serum AFP –> amniocentesis (inc AFP + acetylcholinesterase)
what is prader-willi syndrome
small deletion or in expression of genes on paternal chromosome 15
presentation of prader-willi prenatally
breech
polyhydramnios
reduced fetal movement
presentation of prader-willi neonatally
hypotonia (floppy baby)
feeding difficulties
cryptorchidism
SGA
presentation of prader-willi in early childhood
musc tone improves hyperphagia aggressive behavior (esp w food) obesity + short stature milestone/intellectual delays
presentation of prader-willi in adolescence
premature pubic/axillary hair but delay of other secondary sex characteristics
epilepsy + scoliosis
presentation of prader-willi in adulthood
sterility in females
tx of prader-willi
growth hormone replacement
control obesity
what is beckwith-wiedermann syndrome
abnormal expression chromosome 11
presentation of beckwith-wiedermann
LGA
organomegaly, macroglossia
hypoglycemic infant
earlobe creases + pits, asymmetric limbs
what are pts w beckwith-wiedermann at greater risk for
hepatoblastoma + wilm’s tumor
what is the 3rd MC pediatric cancer
neuroblastoma
in what part of the body is neuroblastoma MC
adrenal medulla + paraspinal region
what is neuroblastoma
cancer of peripheral SNS
how does neuroblastoma present
firm, irregular nodular abd/flank mass, ataxia, ospoclonvs myoclonus syndrome (dancing eyes + feet)
HTN (esp diastolic), diarrhea
how do you dx neuroblastoma
CT scan - tumor w calcification + hemorrhaging
what causes neurofibromatosis
autosomal dominant neurocutaneous disorder
what is the MC type of neurofibromatosis
type 1
why are pts w neurofibromatosis at higher risk of benign + malignant tumors
loss of neurofibromin
dx criteria for neurofibromatosis type 1
2+ of the following:
- 6+ cafe-au-alit spots
- freckling (esp axillary or inguinal by 3-5yo)
- lisch nodules of iris
- 2+ neurofibromas or 1+ plexiform neurofibroma
- optic pathway gliomas
- osseous lesions- scoliosis, sphenoid dysplasia, long bone abnormalities
- 1st degree relative w NF1 or short stature
what are lisch nodules
hamartomas of iris on slit lamp exam
often elevated + tan
what part of the brain do optic pathway gliomas affect
may involve optic chasm or nerve +/orpostchiasmal optic tract
in what age group are optic pathway gliomas MC
<6yo
what can optic pathway gliomas cause
afferent pupillary defect
delayed/premature puberty if associated w hypothalamus
how do you dx NF1
MRI- unidentified bright objects (MC in basal ganglia, brainstem, cerebellum, subcortical white matter) w NO NEURO DEFICITS
often inc brain volume
tx of NF1
screen yearly for optic pathway gliomas
don’t remove NF unless complications occur
what does NF2 usually cause
neurologic lesions
optic lesions
skin lesions
what are the neurologic lesions caused by NF2
bilateral vestibular schwannomas by age 30 –> hearing loss, tinnitus, balance disturbances, hydrocephalus + brainstem compression
meningiomas- often multiple esp in childhood; spinal + intramedullary tumors
what are the optic lesions caused by NF2
cataracts, retinal hamartomas
what are the skin lesions caused by NF2
cutaneous or SQ tumors, skin plaques
tx of NF2
surgery or bevacizumab for vestibular schwannomas
what is tay-sachs disease
autosomal recessive mutation of HEXA on chromosome 15
what is deficient in tay-sachs dz and what is the consequence
deficient B-hexosaminidase A –> ganglioside accumulation in brain –> premature neuronal death + progressive neuronal degeneration
what population MC gets tay-sachs disease
ashkenazi jews of eastern europe
how does an infant w tay-sachs present
birth- inc startle, loss of motor skill
4-5mo- decreased eye contact, hyperacusis, paralysis, blind, retardation + dementia
2nd year- seizure, neurodegeneration
3/4 year- death
how does tay-sachs present in a juvenile (2-10yo)
cognitive + motor deterioration, dysphagia, ataxia, spasticity
death btw 5-15yo
how does tay-sachs present in an adult
usu 30s-40s
unsteady spastic gait, progressive neuro deterioration (speech + swallow), psychosis
what is seen on retinal exam in pt w tay-sachs
cherry-red spots w macular pallor
