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neuro/developmental 6% Flashcards

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1
Q

what causes turners syndrome

A

female w absent/nonfunctional X

XO

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2
Q

what are the systems that turners syndrome affects + how

A

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

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3
Q

what is the presentation of a pt w turners syndrome

A

amenorrhea, short stature, delayed puberty
webbed neck, low set ears, widely spaced nipples
high arched palate, nail dysplasia

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4
Q

what tests can be done to dx turners syndrome

A

high serum FSH + LH

karyotype = definitive

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5
Q

tx of turner syndrome

A

growth hormone replacement

estrogen/progesterone replacement for puberty

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6
Q

what is klinefelter’s syndrome caused by

A

male w extra Y

XYY

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7
Q

presentation of pt w klinefelters

A

male w hypogonadism + small testes–> infertile, gynecomastia, scarce pubic hair
normal before puberty –> tall, obese +/- scoliosis. ataxia, mild developmental delays, expressive language disorders

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8
Q

what tests can be done to dx klinefelters

A

serum testosterone = low

karyotype = definitive

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9
Q

what is fragile X syndrome

A

x-linked disorder in males

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10
Q

what is the presentation of fragile x syndrome

A

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

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11
Q

what is down syndrome

A

trisomy 21

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12
Q

what are brushfield spots

A

white/gray/brown spots on iris seen in down syndrome

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13
Q

how does a neonate with down syndrome present

A 
poor moro reflex
dysplasia of pelvis
hypotonia
anomalous ears
transient neonatal leukemia
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14
Q

what heart issues are associated w down syndrome

A

AV septal defects, VSD, ASD, TOF, PDA

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15
Q

what GI issues are associated w down syndrome

A

duodenal atresia/stenosis

hirschsprung disease

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16
Q

what is ehlers danlos syndrome

A

disorder of collagen synthesis

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17
Q

what is a common COD of pts w ehlers danlos syndrome

A

aneurysm rupture

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18
Q

how does ehlers danlos syndrome present

A 
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
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19
Q

what is meteniers sign

A

easy to evert upper eyelid- in ehlers danlos syndrome

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20
Q

what is marfan syndrome

A

autosomal dominant conn tissue disease –> weak conn tissues –> cardio, ocular + msk findings

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21
Q

what cardio consequences does marfan syndrome have

A

mitral valve prolapse, progressive aortic root dilation –> aortic regurg, dissection + aneurysm

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22
Q

what MSK consequences does marfan syndrome have

A

tall, pectus carinatum (pigeon chest), arachnodactyly (long lanky fingers, arms, and legs), scoliosis, spontaneous PTX, joint laxity

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23
Q

what ocular consequences does marfan syndrome have

A

ectopia lentis (malposition of lens) –> reduced vision + myopia (extreme nearsightedness)

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24
Q

what is seen on exam in pt w FAS

A 
microcephaly
thin upper lip
long + smooth philtrum
small palpebral fissures
small distal phalanges
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25
what causes neural tube defects
maternal folate deficiency
26
what is ancephaly
failure of closure of portion of neural tube that becomes cerebrum
27
what is spina bifida
incomplete closure of embryonic neural tube --> nonfusion of some vertebrae --> protrusion of spinal cord
28
where is spina bifida MC
lumbar + sacral cord
29
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
30
what is the MC type of spina bifida
w myelomeningocele
31
how can you dx neural tube defects
inc maternal serum AFP --> amniocentesis (inc AFP + acetylcholinesterase)
32
what is prader-willi syndrome
small deletion or in expression of genes on paternal chromosome 15
33
presentation of prader-willi prenatally
breech polyhydramnios reduced fetal movement
34
presentation of prader-willi neonatally
hypotonia (floppy baby) feeding difficulties cryptorchidism SGA
35
presentation of prader-willi in early childhood
``` musc tone improves hyperphagia aggressive behavior (esp w food) obesity + short stature milestone/intellectual delays ```
36
presentation of prader-willi in adolescence
premature pubic/axillary hair but delay of other secondary sex characteristics epilepsy + scoliosis
37
presentation of prader-willi in adulthood
sterility in females
38
tx of prader-willi
growth hormone replacement | control obesity
39
what is beckwith-wiedermann syndrome
abnormal expression chromosome 11
40
presentation of beckwith-wiedermann
LGA organomegaly, macroglossia hypoglycemic infant earlobe creases + pits, asymmetric limbs
41
what are pts w beckwith-wiedermann at greater risk for
hepatoblastoma + wilm's tumor
42
what is the 3rd MC pediatric cancer
neuroblastoma
43
in what part of the body is neuroblastoma MC
adrenal medulla + paraspinal region
44
what is neuroblastoma
cancer of peripheral SNS
45
how does neuroblastoma present
firm, irregular nodular abd/flank mass, ataxia, ospoclonvs myoclonus syndrome (dancing eyes + feet) HTN (esp diastolic), diarrhea
46
how do you dx neuroblastoma
CT scan - tumor w calcification + hemorrhaging
47
what causes neurofibromatosis
autosomal dominant neurocutaneous disorder
48
what is the MC type of neurofibromatosis
type 1
49
why are pts w neurofibromatosis at higher risk of benign + malignant tumors
loss of neurofibromin
50
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
51
what are lisch nodules
hamartomas of iris on slit lamp exam | often elevated + tan
52
what part of the brain do optic pathway gliomas affect
may involve optic chasm or nerve +/orpostchiasmal optic tract
53
in what age group are optic pathway gliomas MC
<6yo
54
what can optic pathway gliomas cause
afferent pupillary defect | delayed/premature puberty if associated w hypothalamus
55
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
56
tx of NF1
screen yearly for optic pathway gliomas | don't remove NF unless complications occur
57
what does NF2 usually cause
neurologic lesions optic lesions skin lesions
58
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
59
what are the optic lesions caused by NF2
cataracts, retinal hamartomas
60
what are the skin lesions caused by NF2
cutaneous or SQ tumors, skin plaques
61
tx of NF2
surgery or bevacizumab for vestibular schwannomas
62
what is tay-sachs disease
autosomal recessive mutation of HEXA on chromosome 15
63
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
64
what population MC gets tay-sachs disease
ashkenazi jews of eastern europe
65
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
66
how does tay-sachs present in a juvenile (2-10yo)
cognitive + motor deterioration, dysphagia, ataxia, spasticity death btw 5-15yo
67
how does tay-sachs present in an adult
usu 30s-40s | unsteady spastic gait, progressive neuro deterioration (speech + swallow), psychosis
68
what is seen on retinal exam in pt w tay-sachs
cherry-red spots w macular pallor

Pediatrics (9 decks)

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