Olubunmi Ogunrin A
University of Benin Teaching Hospital, Benin City, Nigeria.
Ann Afr Med. 2010 Apr-Jun;9(2):95-101. doi: 10.4103/1596-3519.64754.
Tuberous sclerosis is a rare neuro-cutaneous syndrome, one of the phakomatosis, characterized by facial angiofibromas (adenoma sebaceum), mental retardation and epilepsy. This classic triad occurs in less than one half of patients, probably in one-third, thus requiring a high index of suspicion to diagnose. Consequently it may easily be misdiagnosed as neurofibromatosis or other medical conditions. This is a case report of tuberous sclerosis in a 13-year-old Nigerian girl that was misdiagnosed as neurofibromatosis because of her cutaneous lesions. This paper discussed the case and reviewed the literature. A comprehensive medical clerkship, thorough physical examination, high index of clinical suspicion and neuroimaging investigations are required to confirm diagnosis.
结节性硬化症是一种罕见的神经皮肤综合征,属于错构瘤病之一,其特征为面部血管纤维瘤(皮脂腺瘤)、智力发育迟缓及癫痫。这种典型的三联征在不到一半的患者中出现,可能约为三分之一,因此诊断时需要高度的怀疑指数。结果,它很容易被误诊为神经纤维瘤病或其他病症。这是一例13岁尼日利亚女孩结节性硬化症的病例报告,因其皮肤损害被误诊为神经纤维瘤病。本文对该病例进行了讨论并回顾了相关文献。确诊需要全面的医学见习、 thorough physical examination、高度的临床怀疑指数及神经影像学检查。 (注:原文中“thorough physical examination”未翻译完整,可能是输入有误,正确翻译为“全面的体格检查”)