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Radiology, Vol 195, 733-738, Copyright © 1995 by Radiological Society of North America

ARTICLES

Chiari I malformation: association with hypophosphatemic rickets and MR imaging appearance

KS Caldemeyer, JC Boaz, RS Wappner, CC Moran, RR Smith and JP Quets
Department of Radiology, Indiana University School of Medicine, University Hospital, Indianapolis 46202-5253, USA.

PURPOSE: To evaluate for an association between familial hypophosphatemic rickets (FHR) and Chiari I malformation (CM1). MATERIALS AND METHODS: Sixteen patients with FHR underwent magnetic resonance (MR) imaging of the cervicomedullary junction. Images were analyzed by three radiologists for cerebellar tonsillar ectopia, syringohydromyelia, calvarial bone thickening, a flat posterior fossa, and cervical spinal stenosis. Final diagnoses were made by means of consensus. Tonsillar ectopia of 4 mm indicated CM1. Subjects underwent neurologic examination and completed a questionnaire. Medical records were retrospectively reviewed. A two-sided Fisher exact test was used to test for independence between CM1 and bone thickening or ventriculomegaly. RESULTS: Seven subjects (44%) had CM1. The more severe the bone thickening, the more likely that a CM1 was present. Four subjects (25%) had cervical spinal stenosis. CONCLUSION: Findings indicate that CM1 is associated with FHR and that the primary abnormality in patients with CM1 is a small posterior fossa caused by a bony malformation.




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