Torabi Ala, Shervin Badv Reza, Mohammadpour Masoud, Zamani Fatemeh, Sadat Sadeghzadeh Masoumeh, Pak Neda
Department of Radiology, Shariati Hospital, Tehran University of Medical Science, Tehran, Iran.
Pediatric Neurology Division, Children's Medical Center Hospital, Pediatrics Center of Excellence, Tehran University of Medical Science, Tehran, Iran.
Iran J Child Neurol. 2025;19(1):127-133. doi: 10.22037/ijcn.v19i1.37492. Epub 2025 Jan 7.
Encephalocraniocutaneous lipomatosis (ECCL), also known as Haberland syndrome, is a rare, nonhereditary, nonprogressive congenital neurocutaneous syndrome with underlying ectodermal dysgenesis. The classic triad of this syndrome is central nervous system (CNS), ocular, and cutaneous involvement as unilateral lipomatous lesions of the scalp, neck, and face with ipsilateral brain anomalies and ipsilateral ocular choristoma. Herein, this study reports a case of a 2-year-old boy presented with status epilepticus for the first time. Intraspinal lipoma, arachnoid cyst, cerebral hemiatrophy, asymmetric hydrocephaly, choristoma, and corneal clouding were noted. This case fulfilled Moog's clinical criteria for diagnosis of Haberland syndrome. Additionally, this study introduces linear and whorled nevoid hypermelanosis and cerebral periventricular white matter hyperintensity as novel manifestations of this syndrome.
脑颅皮肤脂肪瘤病（ECCL），也称为哈伯兰德综合征，是一种罕见的、非遗传性、非进行性先天性神经皮肤综合征，伴有潜在的外胚层发育异常。该综合征的典型三联征是中枢神经系统（CNS）、眼部和皮肤受累，表现为头皮、颈部和面部的单侧脂肪瘤性病变，伴有同侧脑异常和同侧眼错构瘤。在此，本研究报告了一例首次出现癫痫持续状态的2岁男孩病例。发现了脊髓内脂肪瘤、蛛网膜囊肿、脑半球萎缩、不对称脑积水、错构瘤和角膜混浊。该病例符合莫格诊断哈伯兰德综合征的临床标准。此外，本研究介绍了线状和涡状痣样色素沉着过度以及脑室周围脑白质高信号作为该综合征的新表现。
