The neurological complications of osteogenesis imperfecta in 76 patients are reported from the Human Genetics Branch, National Institute of Child Health and Human Development, NIH, Bethesda, MD. The mean age was 8 years. Communicating hydrocephalus was diagnosed by MRI in 17 patients, macrocephaly in 11, and basilar invagination in 8, with brainstem compression in 3. Seizures occurred in 5 patients, and skull fracture in 10. The importance of detection and treatment of neurological features of osteogenesis imperfecta is noted. [1]
COMMENT. The high frequency of basilar impression in severe cases of osteogenesis imperfecta (OI) was remarkable, in comparison with previous reports. Cervical syringohydromyelia is sometimes a concomitant abnormality with basilar impression.
Mosaic rarefaction of the parietal and occipital bones, a characteristic finding in OI in infancy, may persist throughout childhood, and these strips and linear streaks of diminished density of the calvarium must be distinguished from multiple skull fractures, a common complication of OI. [2]