El Aoud Sahar, Frikha Faten, Snoussi Mouna, Salah Raida Ben, Bahloul Zouhir
Department of Internal Medicine, Hedi Chaker Hospital, Sfax, Tunisia.
Saudi J Kidney Dis Transpl. 2017 May-Jun;28(3):633-638. doi: 10.4103/1319-2442.206461.
Tuberous sclerosis or tuberous sclerosis complex (TSC) is an autosomal dominant inherited neurocutaneous disorder that variably affects the brain, skin, kidneys, heart, and other organs. It is characterized by skin and renal lesions in addition to central and peripheral nervous system tumors, with neurological and psychiatric findings. We report such a rare case of tuberous sclerosis in a 25-year-old female who presented with abdominal pain and hypertension. Physical examination showed dermatological signs that included hypopigmented maculae, shagreen plaque, angiofibromas on the centrofacial areas, periungual fibromas on toes, and molluscum pendulum around the neck. Abdominal ultrasonography revealed bilateral renal angiomyolipoma. Brain magnetic resonance imaging showed subependymal nodules and cortical tubers. She also presented retinal and oral lesions. Our patient has a definitive diagnosis of TSC. Hypertension was related to the renal involvement of TSC, and the patient benefitted from oral angiotensin- converting enzyme inhibitors with a favorable outcome.
结节性硬化症或结节性硬化症复合体（TSC）是一种常染色体显性遗传性神经皮肤疾病，可不同程度地影响大脑、皮肤、肾脏、心脏和其他器官。其特征除了中枢和外周神经系统肿瘤外，还有皮肤和肾脏病变，并伴有神经和精神方面的表现。我们报告了一例25岁女性的罕见结节性硬化症病例，该患者表现为腹痛和高血压。体格检查发现了皮肤体征，包括色素减退斑、鲨革斑、面部中央区域的血管纤维瘤、脚趾甲周纤维瘤以及颈部的软垂疣。腹部超声检查显示双侧肾血管平滑肌脂肪瘤。脑部磁共振成像显示室管膜下结节和皮质结节。她还出现了视网膜和口腔病变。我们的患者被明确诊断为TSC。高血压与TSC的肾脏受累有关，患者口服血管紧张素转换酶抑制剂后病情好转。
