Prevalence and natural course of craniocervical junction anomalies during growth in patients with osteogenesis imperfecta

Abstract

Pathology in the craniocervical junction is a serious complication of osteogenesis imperfecta (OI). Our aim was to analyze the prevalence and natural course of craniocervical junction anomalies in patients with OI during growth. In a one-center retrospective study, we analyzed lateral skull radiographs and midsagittal magnetic resonance images of 76 patients with either type I, III, or IV OI. The material included longitudinal series of 31 patients. In total, 150 patient images taken at ages 0 to 39 years were analyzed and compared with agematched control data. Craniocervical anomalies were observed in 37% of patients and in all OI types studied. Of the three types of anomalies, basilar invagination was seen in 13%, basilar impression in 15%, and platybasia in 29% of the patients. From those with an abnormal finding, 44% displayed more than one type of anomaly. At a group level, we found no evidence of progression of craniocervical junction pathology with age. We provide longitudinal and cross-sectional data on craniocervical junction dimensions in growing patients with OI and, based on those, suggest a radiological management strategy for diagnosis of cranial base pathology. A higher risk of having any of the pathological conditions was associated with a lower height Z-score. Careful follow-up of cranial base anomalies particularly in subjects with OI and severe growth failure is warranted. ß

Cranial base pathology in pediatric osteogenesis imperfecta patients treated with bisphosphonates

“…Our finding that cranial base anomalies may develop despite bisphosphonate treatment is consistent with previous studies. 4,11 Further studies in larger patient cohorts with extended follow-up are needed to confirm our findings; the use of MRI in longitudinal follow-up would give more detailed data on the progression of cranial base pathology. The overall effects of bisphosphonates on the skeleton are growth dependent, and thus early treatment initiation is recommended.…”

“…4 As in untreated patients, notable individual variation was observed in the treated patients with respect to the course of the anomalies with growth. In some patients the anomaly progressed, whereas in some an improvement was seen.…”

“…4 The significance of platybasia is disputed. 26 In previous studies, it has been associated with basilar impression and invagination.…”

“…The red lines indicate findings in the bisphosphonate-treated study group, and the blue lines indicate findings in a previously described control group of OI patients not treated with bisphosphonates. 4 Numbers of patients at risk at each time point are given below the figures. headache.…”

Osteogenesis Imperfecta and Other Defects of Bone Development as Occasional Causes of Adult Osteoporosis

“…The majority involve individuals with moderate to severe skeletal deformity. In this category are hydrocephalus, basilar invagination with brainstem compression, basilar impression and platybasia which may be associated with cortical atrophy [117,189]. Basilar invagination allows upward displacement of the upper cervical spine and clivus into the foramen magnum.…”