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Case Reports in Medicine
Volume 2013, Article ID 923129, 4 pages
http://dx.doi.org/10.1155/2013/923129
Case Report

DiGeorge Syndrome Presenting as Hypocalcaemia-Induced Seizures in Adulthood

Department of Surgery, Mater Dei Hospital, Msida MSD 2090, Malta

Received 14 January 2013; Accepted 9 May 2013

Academic Editor: André Mégarbané

Copyright © 2013 Adrian Zammit et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Introduction. DiGeorge syndrome is a developmental defect commonly caused by a microdeletion on the long arm of chromosome 22 or less frequently by a deletion of the short arm of chromosome 10. Case report. We report a case of a gentleman with mild dysmorphic features who presented with hypocalcaemia-induced seizures and an associated thyroid mass with a background of learning difficulties and abnormal immune function. Discussion. DiGeorge syndrome was initially described in 1967 by Angelo DiGeorge. The majority of cases are due to a novel mutation. The resulting learning difficulties, congenital heart disease, palatal abnormalities, hypoplasia/aplasia of the parathyroid and thymus glands, and immune deficiency generally lead to diagnosis in childhood. Presentation in adulthood is rare but must be borne in mind when dealing with cases of hypocalcaemia even in the absence of florid phenotypic features. A link with malignant disease has also been reported and should lead to prompt investigation of concerning masses.