Metaphyseal dysplasia associated with chronic facial nerve palsy
File(s)
Author(s)
Type
Journal Article
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.
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.
Date Issued
2016-02-04
Date Acceptance
2016-01-08
Citation
Child's Nervous System, 2016, 32 (7), pp.1333-1336
ISSN
1433-0350
Publisher
Springer Verlag
Start Page
1333
End Page
1336
Journal / Book Title
Child's Nervous System
Volume
32
Issue
7
Copyright Statement
© The Author(s) 2016. This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.
License URL
Subjects
Erlenmeyer flask sign
Facial nerve palsy
Metaphyseal dysplasia
Pyle disease
Neurology & Neurosurgery
1103 Clinical Sciences
Publication Status
Published