title: New insights into central nervous system involvement in FOP: Case report and review of the literature.
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.
authors.affiliation: Department of Medicine and Surgery, University of Genoa, Genoa, Italy.
authors.forename: Marta
authors.initials: M
authors.lastname: Bertamino
authors.affiliation: Giannina Gaslini Institute, Unit of Neuroradiology, Genoa, Italy.
authors.forename: Mariasavina
authors.initials: M
authors.lastname: Severino
authors.affiliation: Giannina Gaslini Institute, Pediatric Clinic, Genoa, Italy.
authors.forename: Maria Cristina
authors.initials: MC
authors.lastname: Schiaffino
authors.affiliation: Giannina Gaslini Institute, Neurosurgery, Genoa, Italy.
authors.forename: Maria Luisa
authors.initials: ML
authors.lastname: Garrè
authors.affiliation: Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.|G. Gaslini Institute, Laboratory of Molecular Genetics Genoa, Italy 7 Giannina Gaslini Institute, Rare Diseases, Pediatric, Genoa, Italy.
authors.forename: Renata
authors.initials: R
authors.lastname: Bocciardi
authors.affiliation: Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.|G. Gaslini Institute, Laboratory of Molecular Genetics Genoa, Italy 7 Giannina Gaslini Institute, Rare Diseases, Pediatric, Genoa, Italy.
authors.forename: Roberto
authors.initials: R
authors.lastname: Ravazzolo
authors.affiliation: Giannina Gaslini Institute, Unit of Neuroradiology, Genoa, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Rossi
authors.affiliation: Giannina Gaslini Institute, Rare Diseases, Pediatric, Genoa, Italy.
authors.forename: Maja
authors.initials: M
authors.lastname: Di Rocco
mesh_terms: D001921:Brain / Q000473:pathology; D002490:Central Nervous System / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D009221:Myositis Ossificans / Q000473:pathology*
keywords: ACVR1; Fibrodysplasia ossificans progressive; brain MRI; diffuse intrinsic pontine glioma