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Brain Dev. 2014 Jan;36(1):84-7. doi: 10.1016/j.braindev.2012.11.014. Epub 2012 Dec 27.

Vitamin D deficiency: a forgotten treatable cause of motor delay and proximal myopathy.

Author information

1
Pediatric Neurology, Pediatric Subspecialties Service, Geneva Children's Hospital, Switzerland. Electronic address: joel.fluss@hcuge.ch.
2
Pediatric Nephrology and Metabolism Unit, Pediatric Subspecialties Service, Geneva Children's Hospital, Switzerland.
3
Pediatric Orthopaedic Service, Geneva Children's Hospital, Switzerland.

Abstract

We report a four-year-old African boy referred for proximal muscle weakness, fatigability and episodic limb pain. Classical causes of structural and metabolic myopathy were initially considered before clinical and biological features of vitamin D deficiency rickets were identified. Prompt treatment with vitamin D and calcium supplementation led to a complete reversal of the muscle symptoms. Rickets-associated myopathy should be included in the differential diagnosis of proximal myopathy, especially in at-risk individuals. Vitamin D deficiency and its prevention remain important health issues in industrialized countries.

KEYWORDS:

Myopathy; Proximal weakness; Rickets; Vitamin D

PMID:
23273989
DOI:
10.1016/j.braindev.2012.11.014
[Indexed for MEDLINE]
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