Unmasking of latent hypoparathyroidism in a child with partial DiGeorge syndrome by ethylenediaminetetraacetic acid infusion

Eur J Pediatr. 1993 Apr;152(4):316-8. doi: 10.1007/BF01956742.

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.

Publication types

  • Case Reports

MeSH terms

  • Child
  • DiGeorge Syndrome / blood
  • DiGeorge Syndrome / complications*
  • Edetic Acid*
  • Humans
  • Hypoparathyroidism / diagnosis*
  • Hypoparathyroidism / etiology
  • Male

Substances

  • Edetic Acid