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结节性硬化症:较少见体征的表现。

Tuberous sclerosis: a presentation of less-commonly encountered stigmata.

作者信息

Morris B S, Garg A, Jadhav P J

机构信息

Department of Radiology, King Edward Memorial Hospital, Mumbai, India.

出版信息

Australas Radiol. 2002 Dec;46(4):426-30. doi: 10.1046/j.1440-1673.2002.01098.x.

Abstract

The protean manifestations of the tuberous sclerosis complex have lent this condition to extensive review in textbooks and in the medical literature. This condition generally presents by virtue of its neurological manifestations. Osseous stigmata, when encountered, are generally asymptomatic and do not require specific treatment owing to their benignity. We present the case of a young man with a slowly enlarging facial swelling for whom cosmetic surgery was considered. The swelling, present since childhood, had in time assumed disfiguring proportions. In what was hitherto considered an isolated facial deformity, a skull radiograph followed by CT revealed neurological stigmata of tuberous sclerosis. A large cerebellar hamartoma, proliferative soft tissue in the scalp adjacent to focal hyperostosis of the calvarium and the accompanying hemifacial changes seen in this patient constitute less commonly described features of tuberous sclerosis.

摘要

结节性硬化症的症状多样,这使得该病症在教科书和医学文献中得到了广泛的综述。这种病症通常因其神经学表现而出现。骨部体征若被发现,一般无症状,因其良性性质无需特殊治疗。我们报告一例年轻男性病例,其面部肿胀缓慢增大,考虑进行整形手术。该肿胀自童年起就存在,随着时间推移已达到毁容程度。在以往被认为是孤立性面部畸形的病例中,头颅X光片及后续的CT检查显示出结节性硬化症的神经学体征。该患者出现的巨大小脑错构瘤、头皮邻近颅骨局限性骨质增生处的增生性软组织以及伴随的半侧面部改变,构成了结节性硬化症中较少被描述的特征。

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