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Haberland Syndrome (Encephalocraniocutaneous Lipomatosis): A Case Report and Review of Literature Publisher



Torabi A1 ; Badv RS2 ; Mohammadpour M3 ; Zamani F4 ; Sadeghzadeh MS2 ; Pak N4
Authors
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Authors Affiliations
  1. 1. Department of Radiology, Shariati Hospital, Tehran University of Medical Science, Tehran, Iran
  2. 2. Pediatric Neurology Division, Children’s Medical Center Hospital, Pediatrics Center of Excellence, Tehran University of Medical Science, Tehran, Iran
  3. 3. Pediatric Intensive Care Division, Children’s Medical Center Hospital, Tehran University of Medical Sciences, Tehran, Iran
  4. 4. Department of Radiology, Children’s Medical Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran

Source: Iranian Journal of Child Neurology Published:2025


Abstract

Encephalocraniocutaneous lipomatosis (ECCL), also known as Haberland syndrome, is a rare, nonhereditary, nonprogressive congenital neurocutaneous syndrome with underlying ectodermal dysgenesis. The classic triad of this syndrome is central nervous system (CNS), ocular, and cutaneous involvement as unilateral lipomatous lesions of the scalp, neck, and face with ipsilateral brain anomalies and ipsilateral ocular choristoma. Herein, this study reports a case of a 2-year-old boy presented with status epilepticus for the first time. Intraspinal lipoma, arachnoid cyst, cerebral hemiatrophy, asymmetric hydrocephaly, choristoma, and corneal clouding were noted. This case fulfilled Moog’s clinical criteria for diagnosis of Haberland syndrome. Additionally, this study introduces linear and whorled nevoid hypermelanosis and cerebral periventricular white matter hyperintensity as novel manifestations of this syndrome. © 2025 The Authors.