| Autor: |
Sandeep P; Department of Medicine, Govt. Medical College, Calicut., Jayakrishnan C, Sadanan S, Sreekumar S, Thulasidharan NK |
| Jazyk: |
angličtina |
| Zdroj: |
The Journal of the Association of Physicians of India [J Assoc Physicians India] 2009 Oct; Vol. 57, pp. 716-7. |
| Abstrakt: |
Cerebrotendinous xanthomatosis is one of the rare forms of treatable hereditary neurodegenerative disorders. It is due to a defect in hydroxylation of cholesterol side chain that impairs oxidative cleavage of cholesterol leading to excess accumulation of cholesterol. Here we present such a case which presented to us with recurrent generalized tonic clonic seizures. He is under treatment for the same and has not neurologically deteriorated since then. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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