| Autor: |
Baghbanian, Seyed Mohammad, Amiri, Mohammad Reza Mahdavi, Majidi, Hadi |
| Předmět: |
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| Zdroj: |
Practical Neurology; Jun2021, Vol. 21 Issue 3, p243-245, 3p |
| Abstrakt: |
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. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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