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Hypercalcaemia in infancy; A presenting feature of spinal muscular atrophy

Lookup NU author(s): Wheldon Houlsby, Emerita Professor Katherine Bushby, Professor Timothy Cheetham


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A 10 month old girl presented with a history of constipation from early life. She was found to be hypercalcaemic with hypercalciuria and nephrocalcinosis. Her mild motor delay and hypotonia were thought to be linked to chronic hypercalcaemia, but when these features failed to improve despite normocalcaemia on a low calcium diet the possibility of neuromuscular disease was explored in more detail. She was subsequently found to have spinal muscular atrophy type 2. We suspect that the hypercalcaemia with hypercalciuria observed in this case reflects altered bone turnover secondary to reduced muscular activity.

Publication metadata

Author(s): Khawaja K, Houlsby WT, Watson S, Bushby K, Cheetham T

Publication type: Article

Publication status: Published

Journal: Archives of Disease in Childhood

Year: 2004

Volume: 89

Issue: 4

Pages: 384-385

Print publication date: 01/04/2004

ISSN (print): 0003-9888

ISSN (electronic): 1468-2044

Publisher: BMJ Group


DOI: 10.1136/adc.2003.028225

PubMed id: 15033855


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