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DiGeorge's Syndrome in Monozygotic TwinsTreatment With Calcitriol
John D. Miller, MD;
Blair M. Bowker, MD;
David E. C. Cole, MD, PhD;
Harvey J. Guyda, MD
Am J Dis Child. 1983;137(5):438-440.
Abstract
• Monozygotic male twins with DiGeorge's syndrome had facial dysmorphism, cardiovascular abnormalities, hypocalcemia, and immunodeficiency; however, they showed differences in several aspects of this developmental complex. An early gestational insult, rather than a mutation, may be one cause of this heterogeneous disorder. One twin had clinically appreciable hypoparathyroidism and had received calcitriol since early infancy. Despite close monitoring of therapy, he experienced two episodes of unexpected and prolonged hypercalcemia. Following the first episode, he was eucalcemic for nine weeks without therapy, attesting to the prolonged biological effects of calcitriol when used in the treatment of hypoparathyroidism.
(Am J Dis Child 1983;137:438-440)
Author Affiliations
From the Division of Pediatric Endocrinology, Montreal Children's Hospital and McGill University Research Institute, Montreal. Dr Miller is now with The Children's Hospital Research Foundation, Cincinnati. Dr Bowker is now with Montreal General Hospital. Dr Cole is now with The Izaak Walton Killam Hospital for Children, Halifax, Nova Scotia.
Footnotes
Reprint requests to Department of Endocrinology, Montreal Children's Hospital, 2300 Tupper St, Montreal, Quebec, Canada H3H 1P3 (Dr Guyda).
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