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Communicating hydrocephalus, basilar invagination, and other neurologic features in osteogenesis imperfecta

Unit on Neurogenetics (Dr. Charnas) and the Section on Connective Tissue Disorders (Dr. Marini), Human Genetics Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD.

Osteogenesis imperfecta (OI) is anecdotally associated with macrocephaly, hydrocephalus, basilar invagination, and cerebral atrophy, but the frequency and the spectrum of neurologic features of this condition are poorly defined. We report our experience with 76 patients with OI seen at NIH. Neuroimaging studies demonstrated sulcal prominence and ventriculomegaly consistent with communicating hydrocephalus in 17 patients. Eight individuals with severe OI types displayed basilar invagination, causing brainstem compression in three patients. Head circumference growth showed abnormal kinetics with percentile crossing after fontanelle closure in 13 patients, and absolute macrocephaly was present in 11 patients. Additional neurologic complications included skull fracture (10 individuals); seizure disorders (five); transient, unexplained long tract signs (three); and spinal compression and pontine, cervical, and thoracic syringohydromyelia (one patient each). The clinically important neurologic complications appear to be brainstem compression from basilar invagination, skull fracture, and seizure disorders. Neurologic evaluation should be part of a team approach in the management of patients with severe OI types.

Address correspondence and reprint requests to Dr. Lawrence R. Charnas, Building 10, Room 99242, NIH, Bethesda, MD 20892.

Presented in part at the 40th annual meeting of the American Academy of Neurology, Cincinnati, OH, April 1988, and at "Frontiers in Rehabilitation: Osteogenesis Imperfecta," Bethesda, MD, 1992.

Received January 28, 1993. Accepted for publication in final form May 17, 1993.

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