Abstract
DiGeorge syndrome is a rare congenital anomaly with a wide range of clinical manifestations. This syndrome is usually associated with hypocalcaemia resulting from primary hypoparathyroidism. We report here a case of an 8-year-old boy with partial DiGeorge syndrome who presented initially with neonatal hypocalcaemia, but was subsequently normocalcaemic. Latent hypoparathyroidism was unmasked by a diagnostic EDTA infusion resulting in hypocalcaemia without a parathyroid hormone response. We propose that EDTA infusions can be useful in the diagnosis of latent hypoparathyroidism in children.
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Abbreviations
- Ca:
-
calcium
- EDTA:
-
ethylenediaminetetraacetic acid
- PTH:
-
parathyroid hormone
- GFR:
-
glomerular filtration ratio
Reference
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Hasegawa, T., Hasegawa, Y., Yokoyama, T. et al. Unmasking of latent hypoparathyroidism in a child with partial DiGeorge syndrome by ethylenediaminetetraacetic acid infusion. Eur J Pediatr 152, 316–318 (1993). https://doi.org/10.1007/BF01956742
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DOI: https://doi.org/10.1007/BF01956742