Case report and current literature review of adult cerebrotendinous xanthomatosis: evaluation of treatment response based on gait analysis adult cerebrotendinous xanthomatosis

Abstract

Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive neurometabolic disease caused by a mutation in the CYP27A1 gene and deficiency of the mitochondrial 27-sterol hydroxylase enzyme. Deficiency of this enzyme leads to the accumulation of cholestanol and cholesterol in various systems (brain, lens, tendons), resulting in chronic diarrhea, juvenile cataracts, tendon xanthoma, and progressive neurodegeneration. Neurological manifestations include ataxia, dystonia, parkinsonism, seizures, dementia, and peripheral neuropathy. We report a 55-year-old woman who presented with chronic and progressive difficulty walking with a history of juvenile cataracts and a family history of parkinsonism. She was found to have cognitive decline, pyramidal-cerebellar signs, and xanthomas at her distal extremities. The diagnosis of CTX was confirmed by a homozygous pathological variant of the CYP27A1 gene, and treatment with chenodeoxycholic acid was initiated. Because CTX is treatable and preventable, accurate diagnosis and initiation of treatment at the earliest stages are crucial.