[DiGeorge syndrome. An underdiagnosed disease category with different clinical features]

DiGeorge syndrome is estimated to affect one in every 3,000-4,000 live-born individuals. The syndrome is also known as velocardiofacial syndrome (VCFS) and conotruncal anomaly face syndrome (CTFS). The most common clinical features are mental retardation, congenital heart anomalies, primary hypoparathyroidism (with hypocalcaemia), aplasia or hypoplasia of the thymus, and a dysmorphic face. 90% of the affected individuals have a deletion at the long arm of chromosome 22. 80-90% of those deletions are de novo mutations.

This article presents the case of a 32-year-old woman who was diagnosed with DiGeorge syndrome after a grand mal seizure due to hypocalcaemia. The hypocalcaemia was caused by primary hypoparathyroidism. We also give a brief review of the current state of knowledge about DiGeorge syndrome.

DiGeorge syndrome is probably underdiagnosed. A correct and early diagnosis is important in order to prevent medical complications, e.g. hypocalcaemia and hypothyrosis, and to evaluate the patient's overall need of care.