pmc logo imageJournal ListSearchpmc logo image
Logo of ulstermedjJournal URL: redirect3.cgi?&&auth=0hMxwlSDLecr7dGb4hAyaQZno97Ajqw0Oj03qXAOh&reftype=publisher&artid=2604478&article-id=2604478&iid=174620&issue-id=174620&jid=461&journal-id=461&FROM=Article|Banner&TO=Publisher|Other|N%2FA&rendering-type=normal&&http://www.ums.ac.uk/journal.html
Ulster Med J. 2008 September; 77(3): 201–202.
PMCID: PMC2604478
DiGeorge syndrome presenting as late onset hypocalcaemia in adulthood
Philip C Johnston,* Deirdre K Donnelly,+ Patrick J Morrison,+ and Steven J Hunter*
*Regional Centre for Diabetes and Endocrinology, Royal Victoria Hospital, Belfast, N. Ireland, BT12 6BA United Kingdom
+Department of Medical Genetics, A Floor, Belfast City Hospital Trust, Belfast, BT9 7AB, United Kingdom
Correspondence to Dr Hunter Email: steven.hunter/at/belfasttrust.hscni.net
Accepted May 15, 2008.
Abstract
We report a 29 year old female with mild dysmorphic facial features, presenting with late onset symptomatic hypocalcaemia in adulthood. The presence of hypoparathyroidism in association with a history of transient neonatal hypocalcaemia and velopharyngeal incompetence during childhood, prompted chromosomal analysis for DiGeorge Syndrome. Fluorescence in situ hybridisation (FISH) analysis revealed a deletion of chromosome 22q11.2. This case is unusual in that the patient remained asymptomatic apart from speech and language delay after the first few months of life and presented in adulthood without any associated immunological, cardiac or renal abnormalities. The diagnosis has important implications for health and family planning.
Keywords: DiGeorge syndrome, hypocalcaemia, late presentation, deletion 22q11.2