A Rare Case of Spinocerebellar Ataxia Autosomal Recessive 21 Presented With Liver Disease Publisher

Summary: What challenges present in diagnosing rare genetic diseases? Case of spinocerebellar ataxia reveals complex symptoms, highlighting the need for genetic testing in children. #RareDiseases #Genetics

Zare N ; Saneian H ; Khademian M
Source: Advanced Biomedical Research Published:2023

Abstract

Spinocerebellar ataxia autosomal recessive 21 is known as a very rare disease. It is caused by a homozygous mutation in the SCYL1 gene on chromosome 11q13 and presented in early childhood. The common presentations of this disease are recurrent episodes of liver failure, chronic liver fibrosis, cerebellar atrophy in early childhood, late onset of learning disabilities, and peripheral neuropathy. Diagnosis of spinocerebellar ataxia autosomal recessive 21 is challenging, especially due to the variety of clinical presentations. In the current study, we present an 11‑year‑old girl diagnosed with spinocerebellar ataxia autosomal recessive 21. She had multiple episodes of acute hepatic failure with later presentations of neurological dysfunctions. The diagnosis of spinocerebellar ataxia autosomal recessive 21 was made by genetic testing. © 2023 Elsevier B.V., All rights reserved.