title: Vitamin D deficiency: a forgotten treatable cause of motor delay and proximal myopathy.
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.
authors.affiliation: Pediatric Neurology, Pediatric Subspecialties Service, Geneva Children's Hospital, Switzerland. Electronic address: joel.fluss@hcuge.ch.
authors.forename: Joel
authors.initials: J
authors.lastname: Fluss
authors.affiliation: Pediatric Nephrology and Metabolism Unit, Pediatric Subspecialties Service, Geneva Children's Hospital, Switzerland.
authors.forename: Ilse
authors.initials: I
authors.lastname: Kern
authors.affiliation: Pediatric Orthopaedic Service, Geneva Children's Hospital, Switzerland.
authors.forename: Geraldo
authors.initials: G
authors.lastname: de Coulon
authors.affiliation: Pediatric Nephrology and Metabolism Unit, Pediatric Subspecialties Service, Geneva Children's Hospital, Switzerland.
authors.forename: Elsa
authors.initials: E
authors.lastname: Gonzalez
authors.affiliation: Pediatric Nephrology and Metabolism Unit, Pediatric Subspecialties Service, Geneva Children's Hospital, Switzerland.
authors.forename: Hassib
authors.initials: H
authors.lastname: Chehade
mesh_terms: D002118:Calcium / Q000627:therapeutic use; D002675:Child, Preschool; D006801:Humans; D008297:Male; D018908:Muscle Weakness / Q000139:chemically induced*; D009135:Muscular Diseases / Q000139:chemically induced*; D012279:Rickets / Q000188:drug therapy / Q000209:etiology; D014807:Vitamin D / Q000009:adverse effects*; D014808:Vitamin D Deficiency / Q000175:diagnosis*
chemical_list: D014807:Vitamin D; D002118:Calcium