RESUMEN
Objective:To summarize and review a Chinese family with cerebrotendinous xanthomatosis (CTX) so as to improve understanding of the disease.Methods:The proband was admitted to the Department of Neurology， the Second Hospital of Hebei Medical University on May 30, 2019. The medical history, neuro-imaging, pathology, CYP27A1 gene of the proband and CYP27A1 gene of her family were analyzed. Clinical features of similar cases from published literatures were retrieved and systematically summarized.Results:The proband was a 39-year-old female who was admitted to the Second Hospital of Hebei Medical University due to weakness of both lower limbs lasted for more than five years and aggravated for one year with speech slurred. The proband manifested with mental retardation, bilateral pyramidal tract impairment and cerebellar lesions, and had cholesterol crystal in xanthomas and compound heterozygous mutations of c.435G>A and c.1263+1G>A in CYP27A1 gene. The proband′s sister had the same mutation as the proband′s. The proband′s mother was the carrier of c.435G>A mutation, and father was the carrier of c.1263+1G>A mutation. Seventeen related cases concerning CTX with detailed clinical data were searched with major domestic databases. Combined with this case, clinical features with the frequency more than 50% were pyramidal sign, mental decline, ataxia, dysarthria, achilles tendon neoplasm, cataract, high arch foot.Conclusions:The onset of CTX is hidden, which can be diagnosed by its pathology and CYP27A1 gene detection. The possibility of CTX should be considered when there are unexplained clinical manifestations in common diseases such as pyramidal sign, mental decline, ataxia, dysarthria, achilles tendon neoplasm, cataract, high arch foot and so on.