Cerebrotendinous Xanthomatosis as a Very Rare and Treatable Disease Frequently Overlooked: A Case Series

Özet

Cerebrotendinous xanthomatosis (CTX) is a very rare autosomal recessive lipid storage disorder affecting bile acid biosynthesis. It is manifested by neurologic and non-neurologic symptoms due to abnormal tissue lipid deposition. One of the early symptoms of CTX is juvenile cataract formation. Diagnosis is usually delayed but early diagnosis and replacement therapy can prevent devastating neurologic sequelae. Three patients with bilateral juvenile cataracts from same family were reviewed in this case series.The present case series aims to draw attention to the importance of early diagnosis for patients with CTX and to increase the awareness of physicians who have the potential to treat patients with CTX. Early diagnosis has vital importance in the prognosis of these patients.