颅脑皮肤增多症的临床与影像学表现——附1例报道并文献复习

Clinical and Imaging Manifestations of Encephalocraniocutaneous Lipomatosis—A Case Report and Literature Review

摘要: 本研究报告了一例9月余女婴的颅脑皮肤脂肪增多症(ECCL)病例，该患儿因发作性抽搐就诊。临床查体发现其右侧额颞部有淡黄色斑块、皮肤增厚，且右眼结膜有灰黄色隆起肿物。MRI检查提示右侧大脑半球发育不良、右侧岩骨部脂肪瘤、右侧颞极蛛网膜囊肿等特征性病变。综合上述临床表现和影像学结果，患儿最终临床确诊为ECCL。颅脑皮肤脂肪增多症是一种极为罕见的先天性神经皮肤综合征，临床主要表现为皮肤、眼部和中枢神经系统异常。影像学检查对于ECCL患者早期诊断和全面评估具有重要临床价值，临床医生需提高对该疾病的认识。

Abstract: This study reports a case of Encephalocraniocutaneous Lipomatosis (ECCL) in a 9-month-old female infant who presented with paroxysmal convulsions. Physical examination revealed pale yellow plaques and skin thickening in the right frontotemporal region, as well as a grayish-yellow raised mass on the right conjunctiva. MRI examination demonstrated characteristic lesions, including dysplasia of the right cerebral hemisphere, a lipoma in the right petrous region, and an arachnoid cyst in the right temporal pole. Based on these clinical manifestations and imaging findings, the patient was clinically diagnosed with ECCL. Encephalocraniocutaneous Lipomatosis is an extremely rare congenital neurocutaneous syndrome characterized primarily by cutaneous, ocular, and central nervous system anomalies. Imaging examinations are of significant clinical value for the early diagnosis and comprehensive assessment of ECCL patients, and clinicians should enhance their awareness of this disease.