Neuro Shelf - Peds

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Author:
ashboeri
ID:
102320
Filename:
Neuro Shelf - Peds
Updated:
2011-09-17 16:08:53
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neurology
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  1. Denver developmental screening test tests...
    gross motor skills, fine motor skills, language, and personal-social interaction
  2. Cerebral palsy
    due to pre or perinatal damage to cerebromotor pathways

    -hemiparetic - weakness and spasticity are seen on one side of the body (fisting on the affected side, early hand preference, increased reflexes)

    -diparetic - spasticity of all 4 limbs, kids usually normal intelligence, less likely to have seizures vs other forms of CP

    -spastic quadriplegic - all four limbs affected, seizures within first 48 hours of life, maybe cerebral hypotonia
  3. Levels of mental retardation
    • Mild - IQ 55-70
    • Moderate - 40-55
    • Severe - 25-40
    • Profound - less than 25
  4. Moro reflex
    elicited by head extension: extension and abduction of arms and legs. asymmetry indicates CNS disease

    present from birth - 3 months
  5. Tonic neck reflex
    Turning head: arm and leg extended on the side of the turn with flexion on the other side. If infant is uable to move out of posture, implies possible brain pathology

    present from 1-5 months
  6. Traction response
    Lift baby by tration in both hands. Head lag after 6 months is pathologic and indicates hypotonia

    present birth - 6 months
  7. Parachute reflex
    Elicited by plunging suspended infant downward. Arms should thrust forward symmetrically as if breaking the fall. Also elicited with baby in sitting position pushed forward.

    present 6 months to end of life
  8. Tay-Sachs Disease
    Metabolic defect - hexosaminidase A

    chromisome - 15

    notes - cherry red spot
  9. Niemann-Pick disease
    Metabolic defect - sphingomyelinase

    chromisome - 11

    notes - chery red spot
  10. Gaucher Disease
    • Metabolic defect -glucocerebrosidase
    • chromisome - 1
    • notes - cherry red spot, gaucher cells in bone marrow
  11. Krabbe disease
    • Metabolic defect - galactosylceraminde beta-galactosidase
    • chromisome - 14
    • notes - globoid cells with periodic-acid Schiff positive granules
  12. Hurler syndrome
    • Metabolic defect - alpha-L-iduronidase
    • chromisome - 4
    • notes - clouding of cornea, characteristic facies and dwarfism
  13. Hunter syndrome
    • Metabolic defect - iduronate sufatase
    • chromisome - x-linked
    • notes - hurler phenotype without corneal clouding
  14. Metachormatic leukodystrophy
    • Metabolic defect - arylsulfatase A
    • chromisome - 22
    • notes - cherry red spot, demyelinating, can present as schizophrenia in adults, positive urine sulfatides
  15. Adrenoleukodystrophy
    • Metabolic defect - very long chain fatty acid oxidation
    • chromisome - x-linked
    • notes - white matter hyperintensity of MRI, may present as neuropathy or myelopathy in adults
  16. Alexander disease
    • Metabolic defect - glial fibrillary acidic protein
    • chromisome - 11 or 17
    • notes - rosenthal fibers on biopsy, macrocephaly, dysmyelination of CNS
  17. Canavan disease
    • Metabolic defect - aspartoacylase
    • chromisome - 17
    • notes - macrocephaly, dysmyelination of the CNS
  18. Pelizaeus-Merzbacher disease
    • Metabolic defect - proteolipid protein
    • chromisome - x-linked
    • notes - pendular nystagmus, dysmyelination of CNS
  19. Leigh disease
    • Metabolic defect - mitochondrial
    • chromisome - AR or x-linked
    • notes - bilateral putaminal hyperintensity of MRI
  20. Rett syndrome
    • Metabolic defect - methyl-CpG-binding protein-2
    • chromisome - x-linked
    • notes - occurs only in girls: microcephaly, autism, hand-wringing
  21. Neuronal ceroid lipofuscinosis
    • Metabolic defect - excess lipofuscin storage
    • chromisome - many
    • notes - dementia, myoclonus, ataxia, retinitis pigmentosa
  22. NF1
    AD, chromosome 17

    optic nerve gliomas, cafe-au-lait spots, neurofibromas, axillary or inguinal freckles, lisch nodules in iris
  23. NF2
    AD, 22

    bilateral acoustic neuromas, cafe-au-lait spots less common than NF1
  24. Tuberous sclerosis
    AD

    cortical tubers, subependymal nodules and astrocytomas, mental retardation, seizures, adenoma sebaceum, ash-leaf spots, shagreen patches, angiomyolipomas of kidneys, cardiac rhabdomyoma
  25. ataxia telangiectasia
    AR, 11

    truncal ataxia, progressive dementia, telangiectasias, immunodeficiency
  26. von hippel-lindau
    AD, 3

    cerebellar hemangioblastomas, ataxia, renal lesions (carcinomas, pheochromocytoma, etc)
  27. sturge weber
    sporadic inheritance

    venous angioma of pia mater, seizures, hemiparesis, mental retardation, port-wine stain

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