Encephalocraniocutaneous Lipomatosis (Haberland Syndrome or Fishman Syndrome)

Maria Teresa Garozzo, Daniele Attardo, Pierluigi Smilari, Filippo Greco, Agata Fiumara, Agata Polizzi, Andrea D. Praticò, Marina Mazzurco, Concetta Pirrone, Antonio Zanghì, Carmelo Schepis, Francesco Lacarrubba, Giuseppe Micali, Martino Ruggieri

Research output: Contribution to journalReview article

Abstract

Encephalocraniocutaneous lipomatosis is a sporadic, congenital neurocutaneous disorder characterized by the involvement of skin, central nervous system, and eye. A non-hereditary, autosomal mutation that may survive only in a mosaic state may be the cause of the clinical picture of the syndrome. Less than 80 patients have been so far reported and their clinical manifestations consisted of unilateral lipomatous hamartoma of the scalp or eyelid, epibulbar choristomas, and ipsilateral brain malformations. There is no clinical correlation between the severity of brain malformations and the clinical manifestations, and many patients with extremely extensive cerebral abnormalities are only minimal symptomatic. Seizures and mental retardation may also occur. The natural history is often favorable, without drug-resistant seizures and normal intelligence in most of the cases.

Original languageEnglish
Pages (from-to)369-378
Number of pages10
JournalJournal of Pediatric Neurology
Volume16
Issue number5
DOIs
Publication statusPublished - Jan 1 2018

Keywords

  • brain malformations
  • encephalocraniocutaneous lipomatosis
  • epibulbar choristomas
  • Fishman syndrome
  • Haberland syndrome
  • seizures

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology

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  • Cite this

    Garozzo, M. T., Attardo, D., Smilari, P., Greco, F., Fiumara, A., Polizzi, A., Praticò, A. D., Mazzurco, M., Pirrone, C., Zanghì, A., Schepis, C., Lacarrubba, F., Micali, G., & Ruggieri, M. (2018). Encephalocraniocutaneous Lipomatosis (Haberland Syndrome or Fishman Syndrome). Journal of Pediatric Neurology, 16(5), 369-378. https://doi.org/10.1055/s-0038-1667004