Cerebrotendinous Xanthomatosis: Report of Two Siblings With the Same Mutation but Variable Presentation.
| Autor: | Mahadevan N; Internal Medicine, Thanjavur Medical College and Hospital, Thanjavur, IND., Thiruvadi V; Internal Medicine, Thanjavur Medical College and Hospital, Thanjavur, IND., C P; Internal Medicine, Thanjavur Medical College and Hospital, Thanjavur, IND., A R; Medical Genetics, Christian Medical College Vellore, Vellore, IND., A M; Internal Medicine, Thanjavur Medical College and Hospital, Thanjavur, IND. |
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| Jazyk: | angličtina |
| Zdroj: | Cureus [Cureus] 2023 Jan 05; Vol. 15 (1), pp. e33378. Date of Electronic Publication: 2023 Jan 05 (Print Publication: 2023). |
| DOI: | 10.7759/cureus.33378 |
| Abstrakt: | Cerebrotendinous xanthomatosis (CTX), also known as CTX, is an extremely rare bile acid metabolic disorder caused by mutations in the cytochrome P450 family 27 subfamily A member 1 (CYP27A1) gene. This genetic disease is inherited in an autosomal recessive manner, and it affects the enzyme sterol 27-hydroxylase, which is involved in the bile acid metabolic process. It is distinguished by diarrhoea in infancy, early juvenile cataract, tendon xanthomas in adolescence, and progressive neuropsychiatric dysfunction in adulthood. So far, India has reported eight genetically confirmed cases. We present two cases of CTX among siblings in a family. The elder sibling was initially diagnosed, and after reviewing his family history and performing a thorough clinical examination, we discovered a similar manifestation in his younger sibling. Genetic testing on the siblings revealed similar mutations at exon 2 of the CYP27A1 gene. If a pathogenic mutation is discovered in a family member, prenatal and preimplantation genetic testing, as well as childhood screening, are the options. These screening strategies will prevent the onset of neuropsychiatric manifestations and disability. Competing Interests: The authors have declared that no competing interests exist. (Copyright © 2023, Mahadevan et al.) |
| Databáze: | MEDLINE |
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