结节性硬化症

Tuberous Sclerosis.

作者信息

Javaid Ainy, Shabbir Zeshan, Din Islah Ud

机构信息

Department of Radiology, Shaukat Khanum Memorial Cancer Hospital and Research Centre, Lahore, Pakistan.

出版信息

J Pak Med Assoc. 2019 Mar;69(3):445.

PMID:30890846

Abstract

Tuberous sclerosis is a rare genetic disorder inherited in an autosomal dominant fashion. It is a multisystem disorder involving brain, eye, skin, kidney and lungs which manifest in late childhood. We present a typical case of tuberous sclerosis in a young female patient.Extensive work-up including MRI brain, MRI abdomen and CT Thorax was performed. The clinical and radiological findingswere consistent with thediagnosis of tuberous sclerosis.

摘要

结节性硬化症是一种罕见的以常染色体显性方式遗传的基因紊乱疾病。它是一种多系统疾病，累及脑、眼、皮肤、肾和肺，在儿童晚期出现症状。我们展示了一名年轻女性患者的典型结节性硬化症病例。进行了包括脑部磁共振成像（MRI）、腹部MRI和胸部CT在内的全面检查。临床和影像学检查结果与结节性硬化症的诊断相符。