Reading: DiGeorge syndrome: a case report

Download

A- A+
dyslexia friendly

Case Reports

DiGeorge syndrome: a case report

Authors:

I. Kankanan Arachchi ,

University of Ruhuna, LK
About I.
Department of Paediatrics, Faculty of Medicine
X close

I.V. Devasiri,

Teaching Hospital Karapitiya, LK
About I.V.
Professorial Paediatric unit
X close

C. Rathuwithana,

Teaching Hospital Karapitiya, LK
About C.
Professorial Paediatric unit
X close

W.G.H.C. Wackwella,

Teaching Hospital Karapitiya, LK
About W.G.H.C.
Professorial Paediatric unit
X close

N. Atapattu

Lady Ridgeway Hospital, Borella, LK
About N.
Consultant Paediatric Endocrinologist
X close

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.
Keywords: DiGeorge Syndrome 
DOI: http://doi.org/10.4038/jrcs.v20i1.6
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

Downloads

  • PDF (EN)

    comments powered by Disqus