Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid storage disorder affecting the biosynthetic pathway of bile acids, leading to increased cholestanol formation and its accumulation in various tissues.
Patients can present with tendon xanthomas, gait abnormalities, osteoporosis with or without a pathological fracture, diminished vision, intractable diarrhoea, seizures, ataxia, psychosis, and mental retardation.
Published in the Indian Journal of Orthopaedics, the authors report a 20-year-old man who presented with multiple recurrent tendon swellings and seizures. The earlier diagnosis and treatment helps in preventing the devastating neurological sequalae of this sinister condition. Treatment with chenodeoxycholic acid is crucial in preventing the progression of this rare disorder.
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