Hasegawa T, Hasegawa Y, Yokoyama T, Koto S, Asamura S, Tsuchiya Y
Division of Endocrinology and Metabolism, Tokyo Metropolitan Kiyose Children's Hospital, Japan.
Eur J Pediatr. 1993 Apr;152(4):316-8. doi: 10.1007/BF01956742.
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.
