| Literature DB >> 33649896 |
Zehra Filiz Karaman1, Şerife Ebru Özüdoğru2.
Abstract
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.Entities:
Keywords: Encephalocraniocutaneous lipomatosis; Fishman syndrome; RAS-MAPK pathway
Mesh:
Year: 2021 PMID: 33649896 DOI: 10.1007/s00381-021-05099-7
Source DB: PubMed Journal: Childs Nerv Syst ISSN: 0256-7040 Impact factor: 1.475