Brain anomalies in encephalocraniocutaneous lipomatosis

Ute Moog, Marilyn C. Jones, David H. Viskochil, Alain Verloes, Margot I. Van Allen, William B. Dobyns

Research output: Contribution to journalArticlepeer-review

43 Scopus citations

Abstract

Encephalocraniocutaneous lipomatosis (ECCL) is a sporadically occurring neurocutaneous disorder characterized by ocular anomalies, skin lesions, and CNS anomalies. We report on four new patients with this syndrome. Additionally, we reviewed (i) the brain imaging studies and clinical data of these new cases of ECCL and six other previously published ECCL patients, and (ii) the literature on 42 other patients who had undergone some form of neuroimaging, including three cases with probable or uncertain ECCL diagnoses. Thirty-three of 52 patients showed intracranial lipomas, frequently of cerebello-pontine location, and/or spinal lipomatosis. The latter has been found in 12/13 patients who had imaging studies of the spine. Other frequent findings included congenital anomalies of the meninges, in particular arachnoid cysts, and remarkably asymmetric anomalies caused by putative focal vascular defects, such as (partial) atrophy of one hemisphere or thin cerebral mantle, porencephalic cysts and calcifications. Vessel anomalies were found in nine patients. No correlation between the brain anomalies and the degree of retardation or epilepsy could be established. These data provide evidence that the brain anomalies in ECCL are not primary brain malformations but arise secondary to a mesenchymal defect affecting mostly neural crest derivatives.

Original languageEnglish (US)
Pages (from-to)2963-2972
Number of pages10
JournalAmerican Journal of Medical Genetics, Part A
Volume143
Issue number24
DOIs
StatePublished - Dec 15 2007
Externally publishedYes

Keywords

  • Brain malformation
  • Encephalocraniocutaneous lipomatosis
  • Intracranial lipoma
  • Neural crest disorder
  • Spinal lipoma

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