Grade II pilocytic astrocytoma in a 3-month-old patient with encephalocraniocutaneous lipomatosis (ECCL): Case report and literature review of low grade gliomas in ECCL

Sarah Bieser, Martin Reis, Miguel Guzman, Karen Gauvain, Samer Elbabaa, Stephen R. Braddock, Mohamed S. Abdel-Baki

Research output: Contribution to journalArticlepeer-review

13 Scopus citations

Abstract

Encephalocraniocutaneous lipomatosis (ECCL) is a rare congenital syndrome with an unknown etiology. Since 1970, around 60 cases have been reported in English literature. ECCL is usually classified by cutaneous lesions and non-progressive intracranial or spinal lipomas; however three cases of ECCL associated with low grade glioma (LGG) have been described. We report on the fourth case of LGG in a patient with ECCL; a grade II pilocytic astrocytoma with pilomyxoid features in a 3-month-old male, the youngest in literature.

Original languageEnglish
Pages (from-to)878-881
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume167
Issue number4
DOIs
StatePublished - Apr 1 2015

Keywords

  • Encephalocraniocutaneous
  • Glioma
  • Lipomatosis

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