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• 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

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”

Name that diagnosis?

VHL triad

• Also on chromosome 3• What is the leading cause of death?