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Case No. 660
2023-07-01~2023-07-31
출제자 : 심용식
Hit : 455
| Period | 2023-07-01~2023-07-31 |
|---|---|
| Diagnosis | Cerebrotendinous xanthomatosis |
| Gender |
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| Age | 39 |
| Clinical information | 39세 여자 Progressive ataxia (3 years). 진단은? |
| Discussion | Cerebrotendinous Xanthomatosis (CTX) is a rare autosomal recessive disorder caused by a mutation in the CYP2A1 gene, resulting in a deficiency of the mitochondrial enzyme sterol 27-hydroxylase. Cholestanol deposits in tendons and the nervous system is a hallmark of the disease. Bilaterally symmetrical hyperintensities in the dentate nuclei and the cerebellar white matter can be indicative of CTX and signal increases along corticospinal tracts and periventricular white matter may also be seen. |
| Correct answer |
Correct Answer
Semi-Correct Answer |