Cerebrotendinous Xanthomatosis - A Case Report of Two Siblings -
نویسندگان
چکیده
= Abstract =Cerebrotendinous xanthomatosis(CTX), a rare lipid storage disease with diverse neurologic manifestations has, to our knowledge, never been reported in Korea, The authors recently saw two Korean brothers with typical CTX. In the elder one, the clinical presentation included childhood epilepsy, dementia, cataracts, spastic ataxia, and multiple tendon tumefaction in chronological order. In the younger one, dementia, spastic ataxia, and distal muscle atrophy were more pronounced, but tendon enlargement was mild and lenses were intact In both patients, electroencephalograms, brain CT scans, and MRI scans showed various abnormalities indicating diffuse central nervous system lesions more marked on the cerebellum. Nerve conduction velocity studies revealed peripheral neuropathies. Evoked potential studies were also abnormal, indicating central as well as peripheral conduction defects, Pathologically, the essential features of Achilles tendon biopsies were scattered cholesterol clefts, xanthoma cells, and surrounding granulomatous lesions representing foreign body reactions. The therapeutic response of chenodeoxycholic acid medication was not remarkable.
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Clinical and Genetic Characteristics of Splicing Variant in CYP27A1 in an Iranian Family with Cerebrotendinous xanthomatosis
Cerebrotendinous xanthomatosis (CTX) is a rare inborn lipid-storage disease leading to a progressive multisystem disease. CTX with autosomal recessive inheritance is caused by a defect in the CYP27A1 gene. Hallmark clinical manifestations of CTX include bilateral cataracts, chronic diarrhea, tendon xanthomas, and neurologic dysfunction. CTX is a rare disorder, which is supposed to be under-diag...
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