Encephalocraniocutaneous lipomatosis (Haberland syndrome) in a newborn baby: a case report with review of literature
CHILDS NERVOUS SYSTEM, vol.37, no.12, pp.3951-3955, 2021 (SCI-Expanded, Scopus)
- Publication Type: Article / Review
- Volume: 37 Issue: 12
- Publication Date: 2021
- Doi Number: 10.1007/s00381-021-05099-7
- Journal Name: CHILDS NERVOUS SYSTEM
- Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, EMBASE, MEDLINE
- Page Numbers: pp.3951-3955
- Keywords: Encephalocraniocutaneous lipomatosis, RAS-MAPK pathway, Fishman syndrome
- Erciyes University Affiliated: Yes
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.