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Rare disease
Cerebrotendinous xanthomatosis: a rare genetic disorder
  1. Rohan Arjun Bhojwani,
  2. Rajashree Khot
  1. Medicine department, Government Medical college, Nagpur, India
  1. Correspondence to Mr Rohan Arjun Bhojwani, rohan9_88{at}


A 32-year-old male patient presented with uncontrolled convulsions to the emergency room. He had epilepsy since childhood and was on tablet phenytoin sodium 100 mg three times a day. However, on detailed history elicitation and clinical examination, he was found to have a constellation of findings. He had multiple swellings over both the lower limbs and upper limbs at the site of various tendon insertions (xanthomas), mental retardation, speech disturbance, bilateral pyramidal tract involvement and bilateral cataracts. Based on clinical features, a diagnosis of cerebrotendinous xanthomatosis: a relatively rare genetic disorder was suspected, and later on confirmed histopathologically.

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  • Competing interests None.

  • Patient consent Obtained.

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