Pulmonary lymphangioleiomyomatosis and cerebrotendinous xanthomatosis: is there a link?
نویسندگان
چکیده
A 41-year-old woman had progressive shortness of breath. Cerebrotendinous xanthomatosis was diagnosed 4 years before. An open-lung biopsy showed the simultaneous presence of cerebrotendinous xanthomatosis and pulmonary lymphangioleiomyomatosis. This is perhaps the first time the coincidental occurrence of these two diseases is described.
منابع مشابه
Clinical and Genetic Characteristics of Splicing Variant in CYP27A1 in an Iranian Family with Cerebrotendinous xanthomatosis
Cerebrotendinous xanthomatosis (CTX) is a rare inborn lipid-storage disease leading to a progressive multisystem disease. CTX with autosomal recessive inheritance is caused by a defect in the CYP27A1 gene. Hallmark clinical manifestations of CTX include bilateral cataracts, chronic diarrhea, tendon xanthomas, and neurologic dysfunction. CTX is a rare disorder, which is supposed to be under-diag...
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عنوان ژورنال:
- Chest
دوره 112 1 شماره
صفحات -
تاریخ انتشار 1997