Medical Faculty, Department of Radiology, Division of Pediatric Radiology, Erciyes University, Kayseri, Turkey.
Medical Faculty, Department of Pediatrics, Division of Neonatology, Erciyes University, Kayseri, Turkey.
Childs Nerv Syst. 2021 Dec;37(12):3951-3955. doi: 10.1007/s00381-021-05099-7. Epub 2021 Mar 1.
Encephalocraniocutaneous lipomatosis (ECCL) is an extremely uncommon, neurocutaneous disease, with a classical triad of ocular, skin lesions and central nervous system anomalies. We here report a case of ECCL in a newborn baby, characterized with naevus psiloliparus, choristoma, lipodermoids, cervical subcutaneous soft tissue mass, lowset ear, porencephalic cyst, polymicrogyria, arachnoid cyst, leptomeningeal angiomatosis and spinal lipomas. We here stress on the importance of early diagnosis to prevent misdiagnosis and employ a multidisciplinary approach in the management of these patients.
脑-面-皮肤脂肪增多症(ECCL)是一种非常罕见的神经皮肤疾病,具有眼部、皮肤病变和中枢神经系统异常的典型三联征。我们在此报告一例新生儿 ECCL 病例,其特征为色素痣样痣、神经胚细胞瘤、脂肪皮样瘤、颈皮下软组织肿块、低位耳、脑穿通性囊肿、脑回发育不良、蛛网膜囊肿、软脑膜血管瘤病和脊髓脂肪瘤。我们在此强调早期诊断的重要性,以避免误诊,并采用多学科方法治疗这些患者。