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

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 neonat...

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Bibliographic Details
Published inEuropean journal of pediatrics Vol. 152; no. 4; p. 316
Main Authors Hasegawa, T, Hasegawa, Y, Yokoyama, T, Koto, S, Asamura, S, Tsuchiya, Y
Format Journal Article
LanguageEnglish
Published Germany 01.04.1993
Subjects
Child
DiGeorge Syndrome - blood
DiGeorge Syndrome - complications
Edetic Acid
Humans
Hypoparathyroidism - diagnosis
Hypoparathyroidism - etiology
Male
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Summary: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.
ISSN:0340-6199
1432-1076
DOI:10.1007/BF01956742