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22 Cards in this Set
- Front
- Back
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Port wine stain, often in the distribution of CN V1 or V2 should bring to mind which neurocutaneous d/o?
Hereditability? Neurological effects of this d/o? Psychological? Pathogenesis? |
Sturge-Weber Syndrome
None, this is a sporadic d/o Seizures, focal deficits, and progressive neuro sx Mental retardation & behavioral problems residual embryonal blood vessels form a vascular plexus around the cephalic portion of the neural tube (under ectoderm). If this doesn't regress, which can eventually form the angiomata of the leptomeninges, face, and ipsilateral eye. dysfunction results from 2ndary effects on surrounding brain (eventually there is calcification) |
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Hyperpigmented macules on skin (cafe au lait) spots on the skin should make us think of which neurocutaneous d/o?
Other cutaneous sx? Neurological effects of this d/o? |
Neurofibromatosis 1 and 2
- freckling, neurofibromas, and lisch nodules neurofibromas of spinal roots and CN nerves ...variable dysfunction |
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Hypopigmented ash-leaf spots on skin, along with angiofibromas of malar region should make us think of which neurocutaneous d/o?
- other cutaneous sx? Neurological sx? |
Tuberous sclerosis
- shagreen patches - brown, fibrous forehead plaques cortical tubers, white matter heterotopias, subependymal giant cell tumors (can cause seizures, etc. depending on location) |
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Do pts with trisomy 21 have a higher risk of Alzheimer's?
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yes.
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Does fragile X-syndrome occur just in males?
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No, but it affects them more severely.
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What are some physical characteristics of FXS?
Is there a stereotypical movement associated with this d/o? |
hyperextensible joints, large ears, elongated faces, and postpubertal enlargement of the testes.
hand flapping. |
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Neurofibromatosis (NF) 1 and 2 are associated w/ issues on which chromosomes?
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1 = 17
2 = 22 |
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- Dysplastic ears
- large, protruding wrinkled tongue - short broad hands w/ simian crease - Megacolon - Growth Failure - Congenital heart disease - Slanted eyes - optical "Brushfield" spots ...all are associated with what? |
Trisomy 21 (Down syndrome)
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Asperger d/o is currently defined as what?
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autistic spectrum disorder characterized by normal cognitive and language development in concert with social problems, e.g., cannot gauge the emotions of others, and poor conversational skills.
Also found are obsessional interests in and knowledge of obscure subjects that can be learned by memorization. |
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Is autism more common boys or girls?
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4-5x more in boys
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Can Rett dz occur in boys?
- characteristic movements? - other physical sx? - onset/progression? |
no, only in girls.
- hand-wringing - ataxia, breathing problems, mental retardation, gradual onset of motor disabilities - diminished social, verbal, and cog development after up to 4 year of normal function. |
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For ADHD to dx'ed it must occur in at LEAST ___ # of settings.
Sx must be present BEFORE age ___ and persist for at LEAST ___ months. |
2.
7 years old, 6 months. |
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What is Ritalin?
Dexedrine? Adderall? |
- methylpenidate
- dextroamphetamine sulfate - combo of amphetamine and dextroamphetamine |
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A dx of Tourette's requires what two things to coexist?
- before what age does it begin? - M/F predom? - pathophysiological basis? - treatment? |
BOTH involuntary motor movements and involuntary vocalizations.
- 18yo - 3x more common in boys - dysfunctional regulation of dopamine in the caudate nucleus. - antipsychotics such as risperidone. |
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Are there neurological abnormalitites seen in reactive attachment d/o cases?
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no, unlike autism, this d/o is seen in neurologically normal children.
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How can you differentiate b/t oppositional defiant disorder (ODD) and conduct d/o (CD)?
prog of this d/o's? |
ODD behavior does NOT *grossly* violate social norms
CD behavior does. Most show remission by adulthood |
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What is the most common age of onset for separation anxiety d/o?
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7-8 years old.
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What is the inheritance pattern of Tuberous Sclerosis complex?
- which gene mutations cause it? |
dominantly inherited
- TSC1 or TSC2 (cr 9 and 16) mutations - hamartin and tuberin, respectively. |
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In which cmplx do giant cell astrocytomas often lead to hydrocephalus?
- are they present in every w/ this dz? Which cmplx can cause retinal hamartomas? |
Tuberous sclerosis cmplx
- no tuberous sclerosis cmplx |
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What is the gene product mutated in NF1? NF2?
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neurofibromin, (crm 17)
merlin (crm 22) |
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Which neurocut dz should we think if we see bilateral acoustic neuromas?
Schwanomas? |
NF2
NF2 |
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Which dz (that really isn't a neurocut, but is classed with them) causes hemangiblastomas of the CNS with NO skin manifestations?
- do these pts get mental retardation? |
Von-Hippel Lindau
- no. |
