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.
MeSH terms
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Achilles Tendon / pathology
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Alanine
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Ataxia / etiology
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Brain / physiopathology*
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Cataract / genetics
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Chenodeoxycholic Acid / therapeutic use
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Cholestanetriol 26-Monooxygenase / genetics*
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Cholestanol / blood
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Deglutition Disorders / etiology
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Dysarthria / etiology
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Dystonia / etiology
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Early Diagnosis
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Humans
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Intellectual Disability / etiology
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Magnetic Resonance Imaging
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Male
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Middle Aged
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Muscle Spasticity / etiology
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Muscle Weakness / etiology
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Mutation*
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Pedigree
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Radiography
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Treatment Outcome
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Valine
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Xanthomatosis, Cerebrotendinous / complications*
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Xanthomatosis, Cerebrotendinous / diagnosis*
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Xanthomatosis, Cerebrotendinous / diagnostic imaging
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Xanthomatosis, Cerebrotendinous / genetics
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Xanthomatosis, Cerebrotendinous / pathology
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Xanthomatosis, Cerebrotendinous / physiopathology
Substances
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Chenodeoxycholic Acid
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Cholestanol
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CYP27A1 protein, human
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Cholestanetriol 26-Monooxygenase
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Valine
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Alanine