Nassaf M, Afif H, Aichane A, Ridai M, Souabny A, El Ouafi N, Bouayad Z
Service des maladies respiratoires, hôpital 20-août-1953, CHU Ibn-Rochd, Casablanca, Maroc.
Rev Med Interne. 2008 Mar;29(3):252-4. doi: 10.1016/j.revmed.2007.09.024. Epub 2007 Oct 22.
Tuberous sclerosis complex (TSC) is an autosomal dominant phacomatosis. We report a 29-year-old woman who presented with recurrent pneumothorax in whom the diagnosis of TSC relied on the existence of family history (child with cardiac rhabdomyome), skin lesions, pulmonary lymphangiomyomatosis, hepatic lipomas, renal angiomyolipomas, uterine myomas and cerebral lesions on MRI. The diagnostic of TSC might be difficult as it could mimic pulmonary lymphangiomyomatosis.
结节性硬化症(TSC)是一种常染色体显性错构瘤病。我们报告一名29岁女性,她反复出现气胸,其TSC的诊断依赖于家族史(患有心脏横纹肌瘤的孩子)、皮肤病变、肺淋巴管平滑肌瘤病、肝脂肪瘤、肾血管平滑肌脂肪瘤、子宫肌瘤以及MRI显示的脑部病变。由于TSC可能与肺淋巴管平滑肌瘤病相似,其诊断可能会很困难。