Case Reports
DiGeorge syndrome: a case report
Authors:
I. Kankanan Arachchi ,
University of Ruhuna, LK
About I.
Department of Paediatrics, Faculty of Medicine
I.V. Devasiri,
Teaching Hospital Karapitiya, LK
About I.V.
Professorial Paediatric unit
C. Rathuwithana,
Teaching Hospital Karapitiya, LK
About C.
Professorial Paediatric unit
W.G.H.C. Wackwella,
Teaching Hospital Karapitiya, LK
About W.G.H.C.
Professorial Paediatric unit
N. Atapattu
Lady Ridgeway Hospital, Borella, LK
About N.
Consultant Paediatric Endocrinologist
Abstract
Introduction: DiGeorge syndrome (DGS) is a genetic disorder caused by deletion of chromosome 22. The main features are congenital heart disease, absence or hypoplasia of thymus, hypoparathyroidism with consecutive hypocalcaemia. We report a case of an infant presented with hypocalcaemia-induced seizures with an associated thymic aplasia.
How to Cite:
Arachchi, I.K. et al., (2015). DiGeorge syndrome: a case report. Journal of the Ruhunu Clinical Society. 20(1), pp.22–23. DOI: http://doi.org/10.4038/jrcs.v20i1.6
Published on 01 Nov 2015.
Peer Reviewed
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