title: Neuroimaging findings in malignant infantile osteopetrosis due to OSTM1 mutations.
abstract: Malignant infantile osteopetrosis (MIOP) is a rare autosomal recessive disorder of bone resorption characterized by early bone marrow failure, proneness to fractures, and visual deterioration, variably associated with impairments of other cranial nerves due to narrowing of skull base foramina. About 10% of patients with MIOP show severe neurological involvement, which contraindicates bone marrow transplantation. We report on a 12-month-old female with recessive OSMT1 mutations and neuroimaging findings suggesting a neurodegenerative storage disorder.
authors.affiliation: Department of Neuroradiology, G. Gaslini Children's Hospital, Genoa, Italy.
authors.forename: D
authors.initials: D
authors.lastname: Castellano Chiodo
authors.forename: M
authors.initials: M
authors.lastname: DiRocco
authors.forename: C
authors.initials: C
authors.lastname: Gandolfo
authors.forename: G
authors.initials: G
authors.lastname: Morana
authors.forename: D
authors.initials: D
authors.lastname: Buzzi
authors.forename: A
authors.initials: A
authors.lastname: Rossi
mesh_terms: D001224:Aspartic Acid / Q000031:analogs & derivatives / Q000032:analysis; D002794:Choline / Q000032:analysis; D003401:Creatine / Q000032:analysis; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D020271:Heredodegenerative Disorders, Nervous System / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging / Q000379:methods*; D009682:Magnetic Resonance Spectroscopy / Q000379:methods; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D010022:Osteopetrosis / Q000175:diagnosis / Q000235:genetics*; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
chemical_list: D008565:Membrane Proteins; C489946:OSTM1 protein, human; D001224:Aspartic Acid; C000179:N-acetylaspartate; D044767:Ubiquitin-Protein Ligases; D003401:Creatine; D002794:Choline