New insights into central nervous system involvement in FOP: Case report and review of the literature

Research output: Contribution to journalArticle

Abstract

Fibrodyspasia ossificans progressiva is an autosomal dominant disease due to activating mutations in activin receptor type IA and characterized by progressive heterotopic ossification. Recently, the same non-synonymous heterozygous somatic mutations of ACVR1 have been identified in brain biopsies or autopsy of 24-27% of patients with a rare cerebral tumor, the diffuse intrinsic pontine glioma. We report the first case of a patient with FOP with incidental findings of an abnormal soft tissue mass surrounding the brainstem and causing obstructive hydrocephalus, associated with bilateral dentate lesions. Clinico-radiological course during 10 years of follow-up was consistent with a benign lesion, excluding an oncogenic role of ACVR1 mutations.

Original languageEnglish
Pages (from-to)2817-2821
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume167
Issue number11
DOIs
Publication statusPublished - Nov 1 2015

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Keywords

  • ACVR1
  • Brain MRI
  • Diffuse intrinsic pontine glioma
  • Fibrodysplasia ossificans progressive

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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