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X linked hypophosphataemia (XLH) is a rare condition with numerous musculoskeletal complications. It may mimic other more familiar conditions, such as vitamin D deficiency, ankylosing spondylitis or diffuse idiopathic skeletal hyperostosis. We describe two cases with Chiari type 1 malformations and syringomyelia, neither of which is well recognised in XLH. The first presented late with the additional complications of spinal cord compression, pseudofracture, renal stones and gross femoroacetabular impingement requiring hip replacement. The second also had bulbar palsy; the first case to be described in this condition, to the best of our knowledge. We wish to raise awareness of the important neurological complications of syringomyelia, Chiari malformation, spinal cord compression and bulbar palsy when treating these patients. We also wish to draw attention to the utility of family history and genetic testing when making the diagnosis of this rare but potentially treatable condition.

Original publication

DOI

10.1136/bcr-2015-211961

Type

Journal article

Journal

BMJ case reports

Publication Date

01/2015

Volume

2015

Addresses

Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, Botnar Research Centre, Oxford, UK.

Keywords

Humans, Scoliosis, Syringomyelia, Arnold-Chiari Malformation, Bulbar Palsy, Progressive, Rare Diseases, Diagnosis, Differential, Magnetic Resonance Imaging, Mutation, Adult, Male, Familial Hypophosphatemic Rickets