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INTRODUCTION A nearly 5 year-old boy presented with proximal muscle weakness, reduced muscle bulk, a positive Gower sign and Trendelenburg gait. He was known to have cholestatic liver disease. Investigations revealed markedly low serum total calcium, elevated alkaline phosphatase, very low serum 25-hydroxyvitamin D, and radiographs consistent with active rickets despite the ongoing administration of a watersoluble preparation of vitamin D. Only i.v. calcitriol acutely corrected the hypocalcemia, despite trying several oral preparations, suggesting that malabsorption secondary to chronic liver disease was the cause of his rickets. Intramuscular calciferol quickly corrected his muscle weakness and X-ray findings. Myopathy secondary to vitamin D deficiency is an uncommon diagnosis in children. Intermittent calciferol is an inexpensive and practical treatment for vitamin D deficiency, especially if associated with malabsorption. We describe a patient with severe proximal myopathy due to vitamin D deficiency. Malabsorption of vitamin D from chronic liver disease is an unusual but treatable cause of muscle weakness in children. After initiation of intramuscular vitamin D, clinical improvement in muscle strength was observed. PATIENT REPORT KEY WORDS vitamin D deficiency, malabsorption, intramuscular calciferol, progressive familial intrahepatic cholestasis Reprint address: Dr. Alyaarubi Saif Montreal Children's Hospital Department of Endocrinology and Metabolism,
Journal of Pediatric Endocrinology and Metabolism – de Gruyter
Published: Jul 1, 2005
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