Encephalocraniocutaneous lipomatosis (Haberland syndrome) in a newborn baby: a case report with review of literature

KARAMAN Z. F., ÖZÜDOĞRU Ş. E.

CHILDS NERVOUS SYSTEM, cilt.37, sa.12, ss.3951-3955, 2021 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Derleme
  • Cilt numarası: 37 Sayı: 12
  • Basım Tarihi: 2021
  • Doi Numarası: 10.1007/s00381-021-05099-7
  • Dergi Adı: CHILDS NERVOUS SYSTEM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, EMBASE, MEDLINE
  • Sayfa Sayıları: ss.3951-3955
  • Anahtar Kelimeler: Encephalocraniocutaneous lipomatosis, RAS-MAPK pathway, Fishman syndrome
  • Erciyes Üniversitesi Adresli: Evet

Özet

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.