title: Cerebrotendinous Xanthomatosis Without Skin Changes: Diagnostic Delay and Confirmation by Genetic Analysis.
abstract: BACKGROUND
  Cerebrotendinous xanthomatosis is an inherited lipid storage disease manifesting with infantile onset diarrhea, cataracts, xanthomas and adult-onset neurological dysfunction with cerebellar signs and neuropathy.
  
  
  METHODS
  10-year-old boy presented with progressive ataxia, neuropathy and cataracts. Over 6 years, he developed dementia, kyphoscoliosis with worsening ataxia, and neuropathy.
  
  
  RESULTS
  Sterol analysis and CYP27A1 sequencing confirmed the diagnosis.
  
  
  CONCLUSIONS
  The condition should be considered in childhood onset cerebellar ataxia with cataracts, even in the absence of skin signs.
authors: Department of Pediatric Neurosciences, Bai Jerbai Wadia Hospital for Children, Mumbai, India. Correspondence to: Dr Shilpa Kulkarni, EEG room, 2nd floor, Department of Pediatric Neurosciences, Bai Jerbai Wadia Hospital for Children, Parel, Mumbai 400 012, Maharashtra, India. skulkarni.shilpa@gmail.com.
authors: Shilpa D
authors: SD
authors: Kulkarni
authors: Meenal
authors: M
authors: Garg
authors: Rafat
authors: R
authors: Sayed
mesh_terms: D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D002648:Child; D057210:Delayed Diagnosis; D006801:Humans; D008297:Male; D012867:Skin / Q000473:pathology; D019294:Xanthomatosis, Cerebrotendinous