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Neurocutaneous Syndromes

Neurocutaneous Syndromes. Spot Diagnoses. Follows ? lines. Name 5 genetic disorders causing stroke. What is the main opthalmological problem a/w this syndrome?. Mix – Match (more than one may apply). Schimmelpenning’s syndrome  Parry-Romberg syndrome Ataxia Telangiectasia

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Neurocutaneous Syndromes

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  1. Neurocutaneous Syndromes Spot Diagnoses

  2. Follows ? lines

  3. Name 5 genetic disorders causing stroke....

  4. What is the main opthalmological problem a/w this syndrome?

  5. Mix – Match (more than one may apply) • Schimmelpenning’s syndrome  • Parry-Romberg syndrome • Ataxia Telangiectasia • Kinky hair • Keiser Fleischer Rings • Mulberry lesion • NF1 • LAM • Angiomyolipoma • Progressive hemi-facial atrophy, epilepsy, hemiparesis • Disorder of copper metabolism (accumulation in all tissues except liver and brain);gene ATP7A • Disorder of Cu metabolism (accumulation in liver and brain); gene ATP7B • Retinal astrocytoma • Optic nerve glioma • Epilepsy and/or mental retardation with sabaceous nevus • Oculomotor apraxia, elevated alphafetoprotein, low immunoglobulins increased number of sinolumonary infections and predisposition to leukemia / lymphoma

  6. Name that disease...? Deposits of cholesterol and choestanol in virtually every tissue, particularly in AT, brain and lungs... Chromosome 2, AR. Enzyme defect. “Examination for cataracts and tendon (answer)’s should be in the evaluation of new-onset psychosis”

  7. Name that diagnosis?

  8. VHL triad • Also on chromosome 3 • What is the leading cause of death?

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