Clinical features of cerbrotendinous xanthomatosis

Objective To analyze the clinical manifestations, imaging features, histopathology and genes of cerebrotendinous xanthomatosis (CTX) to improve the understanding of clinical workers on the disease. Methods The imaging examination, histopathological and gene detection methods were synthetically applied, and the disease characteristics of two patients with CTX, admitted to our hospital in March 2018, were analyzed. Results (1) Patient one was a 52-year-old male, with typical neurological symptoms: weakness of both lower limbs, damage of pyramidal tract and extrapyramidal system, cognitive impairment, and ataxia; non-neurological symptoms included cataract, arch foot, and Achilles tendon mass; cranial MR imaging indicated symmetrical abnormal signal of cerebellar dentate nucleus, low signal on T1WI, and slightly high and low signal intensity on T2WI/FLAIR; achilles tendon biopsy showed fibrous connective tissues with multiple xanthoma cells and multinucleated giant cells aggregation, accompanied by cholesterol crystallization. (2) Another 16-year-old male presented with cerebellar ataxia, recurrent seizures, mental and motor retardation, and congenital cataract; two heterozygous mutations of CYP27A1 gene were detected by gene detection; and the mutations were c.373-379 delCCAGTAC and c.1420C>T. Conclusion The clinical manifestations of CTX are varied; early imaging examination lacks specificity; it can be clearly diagnosed by histopathology and CYP27A1 gene detection. Key words: Cerebrotendinous xanthomatosis; Ataxia; Cataract; CYP27A1 gene; Epilepsy