Dados do Trabalho

Título

Cerebrotendinous Xanthomatosis: case series

Objetivo

We report a case series of six related patients affected by a homozygous mutation in the CYP27A1 gene (p.R127W:c.379C>T (rs201114717) causing Cerebrotendinous Xanthomatosis.

Relato do caso

We report a case series of six related patients affected by a homozygous mutation in the CYP27A1 gene (p.R127W:c.379C>T (rs201114717) causing Cerebrotendinous Xanthomatosis. All patients showed some stage of cataract and mental illness. Both adult patients presented tendinous xanthomas. The patients underwent cataract surgery, however, chenodeoxycholic therapy has not yet been commenced due to social issues.

Discussão

Cerebrotendinous Xanthomatosis is a treatable rare autossomal recessive disease, however unfourtunatly all six patients still haven’t received the chenodeoxycholic acid treatment because of medical social problems.