Table 1 Brief summary of all siblings with clinical features of the disease
From: Case of cerebrotendinous xanthomatosis with giant xanthomas and literature review
Case | Age of death | Clinical features | Mignarri Suscipion Index | Genetic test |
|---|---|---|---|---|
Second brother | 40 | According to the information received, it was learned that he had mental retardation, cataracts in both eyes, and swelling in the distal lower extremities | 350 | There had been no genetic testing |
Our case | He is alive | He had xanthomas in both lower extremities,bilateral cataracts,osteoporosis and he was mental retardation | 275 | A genetic examination was requested and the CYP27A1 gene p.A216P (c.The mutation 646G > C) (CM044609) was detected as homozygous |
Fourth brother | 50 | This sibling had bilateral cataracts, xanthoma in both lower extremities, gait imbalance (ataxia), a history of generalized tonic–clonic seizures | 375 | There had been no genetic testing |
Fifth brother | 48 | This sibling had a history of cataracts in both eyes, mental retardation, epilepsy, and xanthomas in both lower extremities | 375 | There had been no genetic testing |