Cerebrotendinous xanthomatosis (CTX)
General description
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disorder caused by a mutation in the CYP27A1 gene, which is related to sterol 27-hydroxylase, an enzyme involved in bile acid biosynthesis in hepatic mitochondria. This mutation disrupts bile acid biosynthesis, leading to abnormal accumulation of cholestanol in various organs.
In adolescents, typical clinical manifestations include diarrhea, xanthomas of the Achilles tendon, various neurological symptoms (such as dementia, ataxia, pyramidal and extrapyramidal symptoms, seizures, and peripheral neuropathy), cataracts, cardiovascular disease, and osteoporosis.
Dentate nuclei
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Dentate nucleus
MRI reveals cerebellar atrophy and bilateral symmetric T2WI/FLAIR hyperintensity in the dentate nuclei, sometimes extending into the cerebellar white matter. Peripheral calcification of the dentate nuclei may also be observed, appearing as hyperattenuation on CT and hypointensity on T2*WI.
Cerebellar atrophy
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Cerebellum
Substantia nigra
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Cerebral peduncleCorticospinal tract
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Substantia nigra
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Internal capsulePosterior limb
T2WI shows bilateral hyperintensity in the substantia nigra and the corticospinal tracts of the cerebral peduncles.
Spinal cord
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Spinal cordSpinal white matterLateral column
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Spinal cordSpinal white matterPosterior column
MRI typically reveals T2WI hyperintensity in the posterior and lateral columns of the spinal cord.