title: [Analysis of a cerebrotendinous xanthomatosis case with mental retardation as the initial symptom].
abstract: OBJECTIVE
  To analyze a case of cerebrotendinous xanthomatosis (CTX) with mental retardation as the initial neurological symptom.
  
  
  METHODS
  Medical imaging, histopathological assay and genetic testing were carried out to analyze the patient.
  
  
  RESULTS
  Neurological manifestations of the 27-year-old male patient were initiated by mental retardation and subsequently memory lapses, ataxia, spastic paraplegia and fuzzy language. Other symptoms included cataract, xanthomatosis in Achilles tendon, kidney stones and high arches. The total bile acid in serum has risen to 14.7 umol/L. There were symmetrical abnormal signals in bilateral cerebellar dentate nuclei, hypointensities on T1WI and DWI and mixed signals on T2WI. Cholesterol crystallization and cholesterol granulomatous inflammation were found upon pathological examination of the Achilles tendon. The patient was found to have carried a compound heterozygous mutation of the CTX gene, which consisted of two novel mutations including c.379C>T (p.Arg127Trp) in exon 2 and c.1174G>A (p.Glu392Lys) in exon 6 of the CYP27A1 gene.
  
  
  CONCLUSIONS
  Clinicians should be alert to cerebrotendinous xanthomatosis when the patient has mental retardation caused by genetic and metabolic factors beginning at a young age, particularly accompanied with tendinous xanthomatosis and cataracts. CTX can be readily diagnosed by histopathological assay and sequencing of the CYP27A1 gene.
authors.affiliation: Graduate School, Anhui University of Chinese Medicine, Hefei, Anhui 230038, China; Institute of Neurology, Anhui University of Chinese Medicine, Hefei, Anhui 230061, China. Email: neurodoc@163.com.
authors.forename: Liangliang
authors.initials: L
authors.lastname: Zhang
authors.forename: Long
authors.initials: L
authors.lastname: Zhang
authors.forename: Na
authors.initials: N
authors.lastname: Nian
authors.forename: Xuen
authors.initials: X
authors.lastname: Yu
authors.forename: Yongguang
authors.initials: Y
authors.lastname: Shi
authors.forename: Yan
authors.initials: Y
authors.lastname: Yan
authors.forename: Dandan
authors.initials: D
authors.lastname: Sun
authors.forename: Nan
authors.initials: N
authors.lastname: Cheng
authors.forename: Xun
authors.initials: X
authors.lastname: Wang
authors.forename: Renmin
authors.initials: R
authors.lastname: Yang
mesh_terms: D000328:Adult; D053493:Cholestanetriol 26-Monooxygenase / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology*; D008297:Male; D019294:Xanthomatosis, Cerebrotendinous / Q000150:complications* / Q000235:genetics
chemical_list: C506831:CYP27A1 protein, human; D053493:Cholestanetriol 26-Monooxygenase