Cerebrotendinous xanthomatosis; a genetic condition: Clinical profile of three patients from a rural Indian family and review of literature.

Introduction: Cerebrotendinous xanthomatosis is a rare lipid storage disease characterized by infantile onset diarrhea, cataract, tendon xanthomas, and progressive neurologic dysfunction. Cerebrotendinous xanthomatosis is exceptionally rare in Indian population with only few case reports till now.

Case Report: An 18-year-old male presented to orthopedic outpatients clinic with complaints of insidious onset swelling of both achilles over last 3 years, with history of learning and visual difficulties. On examination, there were firm nontender swellings along the course of both tendoachillis. Plantar response was extensor and Romberg test was positive with eyes closed. Cranial MRI showed diffuse cerebral and cerebellar atrophy. Family history showed history of diarrhea, mental retardation, and visual difficulties in his two younger siblings. They were also called upon and evaluated clinically. All three were diagnosed as having cerebrotendinous xanthomatosis based on clinical and radiological features.

Conclusion: Cerebrotendinous xanthomatosis is a progressive and preventable disorder and it benefits from therapy, so early diagnosis is mandatory to prevent significant morbidity and mortality associated with this disease.