Clinical and Radiological Findings of a Cerebrotendinous Xanthomatosis Patient with a Novel p.A335V Mutation in the CYP27A1 Gene

Tsuneaki Yoshinaga; Yoshiki Sekijima; Shingo Koyama; Keiko Maruyama; Toshikazu Yoshida; Takeo Kato; Shu-ichi Ikeda

doi:10.2169/internalmedicine.53.2996

CASE REPORTS

Clinical and Radiological Findings of a Cerebrotendinous Xanthomatosis Patient with a Novel p.A335V Mutation in the CYP27A1 Gene

Tsuneaki Yoshinaga, Yoshiki Sekijima, Shingo Koyama, Keiko Maruyama, Toshikazu Yoshida, Takeo Kato, Shu-ichi Ikeda

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Keywords: cerebrotendinous xanthomatosis, CYP27A1gene, cholestanol, spasticity, ataxia, magnetic resonance imaging

JOURNAL OPEN ACCESS

2014 Volume 53 Issue 23 Pages 2725-2729

DOI https://doi.org/10.2169/internalmedicine.53.2996

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Abstract

We herein describe the case of a Japanese cerebrotendinous xanthomatosis (CTX) patient with a novel CYP27A1 gene mutation. The patient had been diagnosed with cataracts at 25 years of age and subsequently developed neurological symptoms in his forties, being referred to our hospital at 47 years of age. Upon admission, Achilles tendon xanthomas, cognitive impairment, dysphagia, dysarthria, dystonia, spasticity, muscle weakness and ataxia were observed. Brain MRI revealed abnormal signals in the dentate nuclei, periventricular white matter and pyramidal tract, and the serum cholestanol level was elevated. A CYP27A1 gene analysis identified compound heterozygosity for p.A335V, a novel mutation, and p.R405Q, a previously reported mutation. Making an early diagnosis of CTX is crucial, as the administration of chenodeoxycholic acid reverses metabolic derangement.

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