Muñoz-Montufar Juan Pablo, Rayo-Mares Jesús Darío, Reyes-Cuayahuitl Araceli, Pacheco-Rosas Daniel Octavio, Rangel-Ramírez Mónica Paulina
Servicio de Neurología Pediátrica; Unidad Médica de Alta Especialidad Hospital de Pediatría Dr. Silvestre Freunk Freund, Centro Médico Nacional Siglo XXI, Instituto Mexicano del Seguro Social, México, México.
Servicio de Infectología Pediátrica. Unidad Médica de Alta Especialidad Hospital de Pediatría Dr. Silvestre Freunk Freund, Centro Médico Nacional Siglo XXI, Instituto Mexicano del Seguro Social, Ciudad de México, México.
Gac Med Mex. 2017;153(7):915-918. doi: 10.24875/GMM.17002833.
The encephalocraniocutaneous lipomatosis (ECCL), also known as Fishman or Haberland syndrome, is a rare neurocutaneous syndrome of unknown etiology. Clinically characterized by skin, eye and central nervous system lesions. We present the case of a 7-year-old female who presents to the outpatient clinic of Pediatric Neurology because of the presence of seizures detecting clinical and neuroimaging manifestations compatible with ECCL. The objective of this article is to present the case because of its rare presentation and the variety of alterations found in the tomography.
脑颜面皮肤脂肪瘤病（ECCL），也称为菲什曼或哈伯兰德综合征，是一种病因不明的罕见神经皮肤综合征。临床特征为皮肤、眼睛和中枢神经系统病变。我们报告一例7岁女性病例，该患者因癫痫发作就诊于儿科神经科门诊，检查发现其临床和神经影像学表现符合脑颜面皮肤脂肪瘤病。本文旨在介绍该病例，因其表现罕见且在断层扫描中发现了多种改变。
