Episode 18: Neurocutaneous Syndromes
Neurology Exam Prep Podcast
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Genetics of Ataxia Telenctasia
Ataxia telenctasia is a genetic disorder nosebleeds. This often presents in early childhood with cerebellar dysfunction. It's common to have pulmonary AVMs or hepatic AVMs with this disorder as well which may be even more common than the brain AVMs. The main cause of neurological dysfunction is vascular malformations of the central nervous system.
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