结节性硬化症中的肝脏受累情况。
Liver involvement in tuberous sclerosis.
作者信息
Kechaou Ines, Cherif Eya, Ben Hassine Lamia, Khalfallah Narjess
机构信息
Department of Internal Medicine, Charles Nicolle's Hospital, Tunis, Tunisia.
出版信息
BMJ Case Rep. 2014 Mar 26;2014:bcr2013201650. doi: 10.1136/bcr-2013-201650.
Tuberous sclerosis complex (TSC) is a rare inherited disease that affects many organs and tissues, which explains the diversity of its clinical manifestations. This disease is often diagnosed at an early age when cutaneous angiofibromas, epilepsy and mental retardation are associated. The hepatic involvement in this phakomatosis is an uncommon location. In this context, we report the case of a tuberous sclerosis revealed in adulthood by abdominal pain and distension related to renal and hepatic angiomyolipomas associated with typical skin lesions.
结节性硬化症（TSC）是一种罕见的遗传性疾病，可累及多个器官和组织，这也解释了其临床表现的多样性。这种疾病常在幼年时被诊断出来，此时皮肤血管纤维瘤、癫痫和智力发育迟缓同时出现。肝脏受累在这种错构瘤病中是一个不常见的部位。在此背景下，我们报告一例成年期结节性硬化症病例，该病例表现为与肾和肝血管平滑肌脂肪瘤相关的腹痛和腹胀，并伴有典型的皮肤病变。
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