Cerebrotendinous xanthomatosis revisited
| Autor: | Mohammad Reza Mahdavi Amiri, Hadi Majidi, Seyed Mohammad Baghbanian |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Adult
Pathology medicine.medical_specialty Juvenile cataract Cerebellar ataxia business.industry Xanthomatosis Cerebrotendinous General Medicine Progressive neurodegeneration Lipid storage Cerebrotendinous Xanthomatosis Cataract 03 medical and health sciences Progressive ataxia 0302 clinical medicine Xanthomatosis medicine Humans Female Neurology (clinical) medicine.symptom business 030217 neurology & neurosurgery Tendon xanthomas Spinocerebellar Degenerations |
| Zdroj: | Practical Neurology. 21:243-245 |
| ISSN: | 1474-7766 1474-7758 |
| DOI: | 10.1136/practneurol-2020-002895 |
| Popis: | Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid storage syndrome defined clinically by the triad of progressive neurodegeneration, juvenile cataracts and tendon xanthomas in adults. It is treatable, and a prompt diagnosis can improve outcomes. We describe a patient with this condition who presented with progressive ataxia. |
| Databáze: | OpenAIRE |
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