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

Am J Med Genet A. 2015 Apr;167A(4):878-81. doi: 10.1002/ajmg.a.37017. Epub 2015 Feb 23.

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.

Keywords: encephalocraniocutaneous; glioma; lipomatosis.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Astrocytoma / diagnosis*
  • Astrocytoma / therapy
  • Combined Modality Therapy
  • Eye Diseases / diagnosis*
  • Eye Diseases / therapy
  • Humans
  • Infant
  • Lipomatosis / diagnosis*
  • Lipomatosis / therapy
  • Male
  • Neurocutaneous Syndromes / diagnosis*
  • Neurocutaneous Syndromes / therapy
  • Treatment Outcome

Supplementary concepts

  • Encephalocraniocutaneous lipomatosis