Symptomatic hypoparathyroidism based on a 22qII deletion first diagnosed in a 43-year-old woman
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 de novo 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.
|Keywords||22qII, Caucasian, DiGeorge, DiGeorge syndrome, Hypocalcaemia, Hypoparathyroidism, ace dysmorphia, adult, anticonvulsive agent, article, blood analysis, bone biopsy, brain calcification, calcitriol, calcium, case report, chromosome 22q, chromosome deletion, clinical feature, computer assisted tomography, controlled study, convulsion, drug dose reduction, drug withdrawal, etiracetam, female, fluorescence in situ hybridization, histopathology, human, human tissue, hydrochlorothiazide, hypocalcemia, hypoparathyroidism, laboratory test, magnesium hydroxide, mutational analysis, parathyroid disease, parathyroid hormone, parathyroid hormone blood level, physical examination, short stature, thrombocytopenia, thyroid dysgenesis, vitamin blood level|
|Journal||The Netherlands Journal of Medicine|
van den Berge, K, Diderich, K.E.M, Poddighe, P, & Berghout, A. (2009). Symptomatic hypoparathyroidism based on a 22qII deletion first diagnosed in a 43-year-old woman. The Netherlands Journal of Medicine, 67(3), 102–104. Retrieved from http://hdl.handle.net/1765/16602