AbstractPDF
Abstract
Congenital hypoparathyroidism usually manifests in early
childhood with hypocalcaemia with or without clinical
characteristics. This report describes a Caucasian woman
who, at the age of 43 years, was diagnosed with dysgenesis of the parathyroid glands due to a <i>de novo</i> microdeletion in chromosome 22q11 or DiGeorge syndrome. This syndrome is characterised by a considerable variability in clinical symptoms, including heart defects, thymic hypoplasia and mental retardation. Our patient presented with generalised convulsions due to extreme, symptomatic hypocalcaemia.
The convulsions had been apparent for 18 months at the
time of the diagnosis. Remarkably, whereas parathyroid
hormone levels were undetectable, the 1,25-dihydroxy
vitamin D level was normal. Chromosome 22q11 deletion
was confirmed by fluorescence in situ hybridisation
analysis.
