Metaphyseal dysplasia associated with chronic facial nerve palsy

Abstract

Introduction: Metaphyseal dysplasia (Pyle disease) is a rare autosomal recessive disease with impressive and characteristic radiological findings but relatively mild clinical features. It is usually incidentally diagnosed, despite the impressive radiological findings of gross metaphyseal widening and thinning of cortical bone. Case report: Herein, we report an exceptionally unusual case of metaphyseal dysplasia in association with chronic facial nerve palsy. Discussion: Chronic facial nerve palsy due to compression of the facial nerve in a patient with Pyle disease represents an unusual novelty. Furthermore, this case delineates the clinical spectrum and phenotype of such a rare clinical entity. To the best of our knowledge, this is the first time that such an association is being described.