Koueik Joyce, Hsu David, Helgager Jeffrey, Ahmed Raheel
Department of Neurological Surgery, University of Wisconsin, Madison, Wisconsin.
Department of Neurology, University of Wisconsin, Madison, Wisconsin.
J Neurosurg Case Lessons. 2025 Apr 28;9(17). doi: 10.3171/CASE2578.
Encephalocraniocutaneous lipomatosis (ECCL) is a rare neurocutaneous syndrome composed of a spectrum of congenital cutaneous, ocular, and brain anomalies. Principal anomalies include nevus psiloliparus lesions of the scalp, ocular choristomas consisting of dermolipomas, and intracranial lipomas and arachnoid cysts. The hypothesized pathogenic basis in ECCL is a developmental mesenchymal defect involving neural crest cell derivatives. Management is typically focused on treating symptoms, directed at the organ system and supportive neurorehabilitation. Reports to date have only focused on pharmacotherapeutic treatment of drug-refractory epilepsy (DRE), a principal neurological phenotype. Surgical management of medication-refractory epilepsy, which can occur in up to 70% of ECCL subjects, has not been described to date.
The authors present an illustrative case report of a 4-year-old girl with ECCL who developed DRE and underwent a functional hemispherectomy for seizure relief. The clinical course, diagnostic evaluation, and surgical treatment are described, with emphasis on surgical-pathological observations.
To the authors' knowledge, surgical treatment for hemispheric onset DRE in the context of ECCL has not been reported. Systemic and clinical features on presentation are reviewed to highlight aberrant mesenchymal differentiation as the developmental basis for the syndrome. The authors also underscore the role of functional hemispherectomy in the treatment of DRE in the context of a genetic/developmental syndrome. https://thejns.org/doi/10.3171/CASE2578.
脑颜面皮肤脂肪瘤病（ECCL）是一种罕见的神经皮肤综合征，由一系列先天性皮肤、眼部和脑部异常组成。主要异常包括头皮的平滑脂肪瘤性痣病变、由皮样脂肪瘤组成的眼部迷芽瘤以及颅内脂肪瘤和蛛网膜囊肿。ECCL的假定致病基础是涉及神经嵴细胞衍生物的发育性间充质缺陷。治疗通常侧重于针对器官系统治疗症状并进行支持性神经康复。迄今为止的报告仅关注药物难治性癫痫（DRE）这一主要神经表型的药物治疗。药物难治性癫痫的手术治疗在高达70%的ECCL患者中可能发生，但迄今为止尚未见相关描述。
作者报告了一例4岁ECCL女童的病例，该女童发生了DRE并接受了功能性大脑半球切除术以缓解癫痫发作。描述了临床过程、诊断评估和手术治疗，重点是手术病理观察。
据作者所知，尚未有关于ECCL背景下半球性发作DRE手术治疗的报道。回顾了呈现的全身和临床特征，以突出异常间充质分化作为该综合征的发育基础。作者还强调了功能性大脑半球切除术在遗传/发育综合征背景下治疗DRE中的作用。https://thejns.org/doi/10.3171/CASE2578
