Al Qawasmeh Majdi, Aldabbour Belal, Alhayek Kefah, El-Salem Khalid
Department of Neurology, King Abdullah University Hospital (KAUH), Jordan University of Science and Technology (JUST), Irbid, Jordan.
Int Med Case Rep J. 2020 Aug 17;13:347-351. doi: 10.2147/IMCRJ.S269007. eCollection 2020.
Encephalocraniocutaneous lipomatosis "ECCL" is a rare, sporadic neurocutaneous disorder that results from a lethal autosomal mutation surviving by somatic mosaicism. It is characterized by unilateral involvement of skin, eyes and central nervous system in addition to a propensity for mesenchymal tumors. A 30-year-old male with previously controlled epilepsy presented with recurrent seizures. Brain imaging revealed a left parietal parasagittal enhancing tumor, in addition to left sided gyriform calcifications, and bilateral cerebral atrophy and ventricular dilatation more prominent on the left side. He also presented multiple left sided sebaceous nevi and abundant subcutaneous lipomas in addition to left mandibular condylar cysts. The brain tumor was excised, and cytopathology revealed a WHO grade I fibrous meningioma. After a thorough evaluation and exclusion of alternative diagnoses, the patient was diagnosed with definite encephalocraniocutaneous lipomatosis as per Moog's criteria. Several cases of ECCL recently presented with different intracranial neoplasms. Here we report the first case of ECCL in association with meningioma.
脑颅皮肤脂肪瘤病（“ECCL”）是一种罕见的散发性神经皮肤疾病，由通过体细胞镶嵌现象存活的致死性常染色体突变引起。其特征是除了易患间充质肿瘤外，还伴有皮肤、眼睛和中枢神经系统的单侧受累。一名30岁男性，既往癫痫已得到控制，现出现癫痫复发。脑部影像学检查显示左侧顶叶矢状旁有强化肿瘤，此外还有左侧脑回状钙化，以及双侧脑萎缩和脑室扩张，左侧更为明显。他还伴有多个左侧皮脂腺痣、大量皮下脂肪瘤以及左侧下颌髁囊肿。切除脑肿瘤后，细胞病理学显示为世界卫生组织I级纤维性脑膜瘤。经过全面评估并排除其他诊断后，根据穆格标准，该患者被诊断为确诊的脑颅皮肤脂肪瘤病。最近有几例脑颅皮肤脂肪瘤病患者出现了不同的颅内肿瘤。在此我们报告首例与脑膜瘤相关的脑颅皮肤脂肪瘤病病例。
