COMMUNICATING HYDROCEPHALUS, BASILAR INVAGINATION, AND OTHER NEUROLOGIC FEATURES IN OSTEOGENESIS IMPERFECTA

Osteogenesis imperfecta (OI) is anecdotally associated with macrocepha ly, hydrocephalus, basilar invagination, and cerebral atrophy, but the frequency and the spectrum of neurologic features of this condition a re poorly defined. We report our experience with 76 patients with OI s een at NIH. Neuroimaging studies demonstrated sulcal prominence and ve ntriculomegaly consistent with communicating hydrocephalus in 17 patie nts. Eight individuals with severe OI types displayed basilar invagina tion, causing brainstem compression in three patients. Head circumfere nce growth showed abnormal kinetics with percentile crossing after fon tanelle closure in 13 patients, and absolute macrocephaly was present in 11 patients. Additional neurologic complications included skull fra cture (10 individuals); seizure disorders (five); transient, unexplain ed long tract signs (three); and spinal compression and pontine, cervi cal, and thoracic syringohydromyelia (one patient each). The clinicall y important neurologic complications appear to be brainstem compressio n from basilar invagination, skull fracture, and seizure disorders. Ne urologic evaluation should be part of a team approach in the managemen t of patients with severe OI types.