Literature DB >> 33649896

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

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.
© 2021. The Author(s), under exclusive licence to Springer-Verlag GmbH, DE part of Springer Nature.

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


  1 in total

1.  Encephalocraniocutaneous lipomatosis.

Authors:  M A Fishman; C S Chang; J E Miller
Journal:  Pediatrics       Date:  1978-04       Impact factor: 7.124

  1 in total

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