ABSTRACT
INTRODUCTION: Cerebrotendinous xanthomatosis is a very rare disorder of cholesterol metabolism with autosomal recessive inheritance. It can present to the out-patient clinics of orthopaedic department with painful and swollen tendoachilles on one or both sides. It is commonly mistaken for a local disorder and excision may be recommended without realizing its systemic nature. CASE REPORT: We find such a rare and perplexing case in a 19 year boy who presented with painful swellings of both achilles tendons causing signification limitation of walking distance. This was initially interpreted as a localized benign disorder and was offered surgical treatment. Excision of the swollen achilles tendon followed by reconstruction using peroneus brevis tendon was done, first on the more symptomatic right side. The diagnosis of cerebrotendinous xanthomatosis was made retrospectively after histopathological as well as biochemical analyses and appropriate medical therapy was initiated. CONCLUSION: Cerebrotendinous xanthomatosis commonly manifests with bilateral swollen tendoachilles, which is actually a part of systemic pathology with poor prognosis. High suspicion is warranted and surgical excision should not be the primary option without the confirmation of the cause. A detailed history with clinical assessment followed by the laboratory investigations certainly leads to the correct diagnosis. The treatment is more of medical means and appropriate medication can even retard the disease progression, if initiated early in life.
