title: Neurologic profile in osteogenesis imperfecta.
abstract: The clinically important neurlogic complications in 76 patients with OI seen at the NIH included brainstem compression from basilar invagination, skull fracture, and seizure disorders. Neuroimaging studies demonstrated sulcal prominence and ventriculomegaly consistent with communicating hydrocephalus in 17 patients. Basilar invagination was found in 8 individuals, all with clinically severe OI, and caused brain-stem compression in 3 patients. Head circumference growth showed abnormal kinetics with percentile crossing after fontanelle closure in 13 patients and absolute macrocephaly was present in 11 patients. Neurologic evaluation should be part of a team approach in the management of patients with severe OI types. Continued study of the underlying pathophysiology of neurologic features in OI is warranted.
authors.affiliation: Section on Connective Tissue Disorders, Human Genetics Branch, National Institute of Child Health and Human Development, NIH, Bethesda, MD 20892, USA.
authors.forename: L R
authors.initials: LR
authors.lastname: Charnas
authors.forename: J C
authors.initials: JC
authors.lastname: Marini
mesh_terms: D001927:Brain Diseases / Q000209:etiology / Q000473:pathology* / Q000503:physiopathology*; D001933:Brain Stem / Q000293:injuries / Q000473:pathology / Q000503:physiopathology; D002648:Child; D004827:Epilepsy / Q000209:etiology / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D006849:Hydrocephalus / Q000209:etiology / Q000473:pathology / Q000503:physiopathology; D008137:Longitudinal Studies; D009460:Neurologic Examination / Q000592:standards; D010013:Osteogenesis Imperfecta / Q000150:complications*; D019291:Skull Base / Q000002:abnormalities / Q000473:pathology / Q000503:physiopathology; D012887:Skull Fractures / Q000209:etiology / Q000473:pathology / Q000503:physiopathology