ArticleBMJ case reports2015
Chiari malformation, syringomyelia and bulbar palsy in X linked hypophosphataemia.
Article in BMJ case reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 2 of them syntheses that pooled it.
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Who cites it
11 citing papers in PubMed, 2 syntheses or guidelines pooled it, 16 citations in OpenAlex.
- X-linked hypophosphatemia and spinal cord compression: a systematic review and illustrative case.Acta neurochirurgica · 2026Pooled it
- Burden of disease associated with X-linked hypophosphataemia in adults: a systematic literature review.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2021Pooled it
- The Genetics of Chiari 1 Malformation.Journal of clinical medicine · 2024Review
- X-linked hypophosphatemia due to a de novo novel splice-site variant in a 7-year-old girl with scaphocephaly, Chiari syndrome type I and syringomyelia.Bone reports · 2024Article
- X-linked hypophosphatemia, fibroblast growth factor 23 signaling, and craniosynostosis.Experimental biology and medicine (Maywood, N.J.) · 2023Review
- Altered Expression of Several Molecular Mediators of Cerebrospinal Fluid Production inJournal of the Endocrine Society · 2023Article
- RareBMJ case reports · 2021Article
- X-Linked Hypophosphatemic Rickets: Multisystemic Disorder in Children Requiring Multidisciplinary Management.Frontiers in endocrinology · 2021Review
- Article
- High Incidence of Cranial Synostosis and Chiari I Malformation in Children With X-Linked Hypophosphatemic Rickets (XLHR).Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2019Article
- Digenic mutations of humanHuman genome variation · 2016Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.