Atlanto‐Axial Malformation and Instability in Dogs with Pituitary Dwarfism due to an LHX3 Mutation. (14th January 2015)

• Record Type: Journal Article
• Authors: Voorbij, A.M.W.Y.; Meij, B.P.; van Bruggen, L.W.L.; Grinwis, G.C.M.; Stassen, Q.E.M.; Kooistra, H.S.
• Is Part Of: Journal of veterinary internal medicine. Volume 29:Number 1(2015:Jan./Feb.)
• Page Start: 207
• Page End: 213
• Publication Date: 2015-01-14
• Subjects: Veterinary medicine -- Periodicals; 636.0896
• DOI: 10.1111/jvim.12523
• Languages: English
• ISSNs: 0891-6640

Abstract

<abstract abstract-type="main" id="jvim12523-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="jvim12523-sec-0001" sec-type="section"> <title>Background</title> <p>Canine pituitary dwarfism or combined pituitary hormone deficiency (CPHD) in shepherd dogs is associated with an <italic>LHX3</italic> mutation and can lead to a wide range of clinical manifestations. Some dogs with CPHD have neurological signs that are localized to the cervical spine. In human CPHD, caused by an <italic>LHX3</italic> mutation, anatomical abnormalities in the atlanto‐axial (C1‐C2) joint have been described.</p> </sec> <sec id="jvim12523-sec-0002" sec-type="section"> <title>Objectives</title> <p>To evaluate the presence of atlanto‐axial malformations in dogs with pituitary dwarfism associated with an <italic>LHX3</italic> mutation and to investigate the degree of similarity between the atlanto‐axial anomalies found in canine and human CPHD patients with an <italic>LHX3</italic> mutation.</p> </sec> <sec id="jvim12523-sec-0003" sec-type="section"> <title>Animals</title> <p>Three client‐owned Czechoslovakian wolfdogs and 1 client‐owned German shepherd dog, previously diagnosed with pituitary dwarfism caused by an <italic>LHX3</italic> mutation, with neurological signs indicating a cervical spinal disorder.</p> </sec> <sec id="jvim12523-sec-0004" sec-type="section"> <title>Methods</title> <p>Radiography, computed tomography, and magnetic resonance imaging of the cranial neck and skull, necropsy, and histology.</p> </sec> <sec id="jvim12523-sec-0005" sec-type="section"> <title>Results</title> <p>Diagnostic imaging identified abnormal positioning of the dens axis and incomplete ossification of the suture lines between the ossification centers of the atlas with concurrent atlanto‐axial instability and dynamic compression of the spinal cord by the dens axis. The malformations and aberrant motion at C1–C2 were confirmed at necropsy and histology.</p> </sec> <sec id="jvim12523-sec-0006" sec-type="section"> <title>Conclusions and Clinical Importance</title> <p>The atlanto‐axial abnormalities of the dwarf dogs resemble those encountered in human CPHD patients with an <italic>LHX3</italic> mutation. These findings suggest an association between the <italic>LHX3</italic> mutation in dogs with CPHD and atlanto‐axial malformations. Consequently, pituitary dwarfs should be monitored closely for neurological signs.</p> </sec> </abstract>