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Radiology. 1995 Jun;195(3):733-8.

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

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  • 1Department of Radiology, Indiana University School of Medicine, University Hospital, Indianapolis 46202-5253, USA.

Abstract

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.

[PubMed - indexed for MEDLINE]
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