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New insights into central nervous system involvement in FOP: Case report and review of the literature
Author(s) -
Bertamino Marta,
Severino Mariasavina,
Schiaffino Maria Cristina,
Garrè Maria Luisa,
Bocciardi Renata,
Ravazzolo Roberto,
Rossi Andrea,
Di Rocco Maja
Publication year - 2015
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37271
Subject(s) - medicine , pathology , fibrodysplasia ossificans progressiva , central nervous system , heterotopic ossification , lesion , autopsy , brainstem , hydrocephalus , anatomy , radiology
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. © 2015 Wiley Periodicals, Inc.