Basilar invagination in osteogenesis imperfecta and related osteochondrodysplasias: medical and surgical management.

Osteogenesis imperfecta (OI) is a heritable disorder of bone development caused by defective collagen synthesis. Basilar invagination is an uncommon but devastating complication of this disease. The authors present a comprehensive strategy for management of craniovertebral anomalies associated with OI and related osteochondrodysplasias. Twenty-five patients with congenital osteochondrodysplasias (18 OI, four Hajdu-Cheney syndrome, and three spondyloepiphyseal dysplasia) and basilar invagination were evaluated between 1985 and 1995. The male/female ratio in this cohort was 1:1. The mean age at presentation was 11.9 years (range 13 months-20 years). Fourteen patients (56%) presented during adolescence (11-15 years of age). Symptoms and signs included headache (76%), lower cranial nerve dysfunction (68%), hyperreflexia (56%), quadriparesis (48%), ataxia (32%), nystagmus (28%), and scoliosis (20%). Four patients (16%) were asymptomatic. Seven (28%) had undergone previous posterior fossa decompression; one had also undergone ventral decompression. Imaging findings included basilar invagination (100%), ventral brainstem compression (84%), hydrocephalus (32%), hindbrain herniation (28%), and syringomyelia/syringobulbia (16%). Patients with hydrocephalus underwent ventricular shunt placement. Reducible basilar invagination (40%) was treated with posterior fossa decompression and occipitocervical fusion. Those with irreducible ventral compression (60%) underwent transoral-transpalatopharyngeal decompression followed by occipitocervical fusion. All patients improved initially. However, basilar invagination progressed radiographically in 80% (symptomatic in 24%) despite successful fusion. Prolonged external orthotic immobilization with the modified Minerva brace afforded symptomatic improvement and arrested progression of the deformity. The mean follow-up period was 5.9 years (range 1.1-10.5 years). Ventral brainstem compression in OI should be treated with ventral decompression, followed by occipitocervical fusion with contoured loop instrumentation to prevent further squamooccipital infolding. Despite fusion, however, basilar invagination tends to progress. Prolonged immobilization (particularly during adolescence) may stabilize symptoms and halt further invagination. This study represents the largest series to date addressing craniovertebral anomalies in OI and related congenital bone softening disorders.