Spinal form cerebrotendinous xanthomatosis patient with long spinal cord lesion.

ABSTRACT:

Context

Cerebrotendinous xanthomatosis (CTX) is an autosomal recessively inherited lipid storage disease caused by mutation in the CYP27A1 gene. Spinal form CTX is a rare clinical subgroup of CTX and only 14 patients from 11 families have been reported to date. Here, we report the first Asian patient with spinal form CTX showing characteristic radiological findings.

Findings

The patient, a 46-year-old Japanese male, developed sensory disturbance of the lower legs at 39 and spastic gait at 46 years of age. Spinal cord magnetic resonance imaging (MRI) revealed a long hyperintense lesion involving lateral corticospinal tracts and gracile tracts in the cervical and thoracic cord on T2-weighted images. Gallium-67 (⁶⁷Ga) scintigraphy revealed abnormal uptake in the Achi

SUBMITTER: Abe R 

PROVIDER: S-EPMC5137569 | biostudies-literature | 2016 Nov

REPOSITORIES: biostudies-literature