Treatable Intellectual Disability

Cerebrotendinous Xanthomatosis

BIOCHEMICAL DEFICIENCY

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DIAGNOSIS

Gene
CYP27A1 (AR)

Diagnostic Test
Plasma Cholestanol

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SIGNS & SYMPTOMS

Neurological
Dementia, psychosis, behavioral disturbances, ataxia, neuropathy

Non-Neurological
Cataract, myocardial infarction (atherosclerosis), diarrhea, cholestatic icterus, osteoporosis, tendon xanthomata

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THERAPY

Treatment
Chenodesoxycholic Acid, HMG Reductase Inhibitor

Level of Evidence
4

Clinical Practice
Standard of Care

Treatment Effect
Stabilizes clinical deterioration; improves behaviour, neurological & systemic manifestations


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Cerebrotendinous Xanthomatosis (CTX)

is an inborn error of acid bile synthesis and storage of sterols with onset in early childhood.Typically it is characterized by xanthomas of the Achilles and other tendons, juvenile cataracts, early atherosclerosis and progressive neurological disorder with intellectual disability (during the 1st decade), cerebellar ataxia beginning after puberty, systemic spinal cord involvement and dementia. Cholestatic jaundiceduring infancy and diarrhea are other common systemic features. (Source: Orphanet)

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This disease is not (yet) listed on their website.