PedAM
Pediatric Disease Annotations & Medicines
| Disease | cerebrotendinous xanthomatosis |
| Phenotype | C0086543|cataract |
| Sentences | 1 |
| PubMedID- 22212991 | A 34-year-old patient demonstrating pyramidal and cerebellar signs, accompanied by epilepsy, peripheral neuropathy, mental retardation and bilateral cataract was diagnosed with cerebrotendinous xanthomatosis based on the clinical picture, magnetic resonance imaging of the brain and serum sterol analysis. |
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