A case of encephalocraniocutaneous lipomatosis syndrome with epilepsy (Haberland syndrome)

Folia Med (Plovdiv). 2009 Oct-Dec;51(4):46-8.

Abstract

Encephalocraniocutaneous lipomatosis is a rare congenital neurocutaneous syndrome characterized by scalp, facial, and ocular lesions and multiple intracranial malformations. Approximately 50 cases have been described in the literature. We report a 34-year-old woman with a 6-year history of epilepsy, without mental retardation, with predominantly ipsilateral skin lesions evident at birth, with limbal lipodermoid of the left eye and multiple non-progressive, ipsilateral intracranial structures of soft, cystic components. The described malformations are congenital, mostly unilaterally located and with similar lipomatous structure.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Biopsy
  • Diagnosis, Differential
  • Epilepsy / diagnosis*
  • Epilepsy / etiology
  • Female
  • Humans
  • Lipomatosis / complications
  • Lipomatosis / diagnosis*
  • Magnetic Resonance Imaging
  • Neurocutaneous Syndromes / complications
  • Neurocutaneous Syndromes / diagnosis*
  • Skin / pathology*