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Episode 18: Neurocutaneous Syndromes

Neurology Exam Prep Podcast

CHAPTER

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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