Variable calcium status in partial Di George Syndrome

Abstract

Introduction: Di George Syndrome (DGS) or sequence is characterised by the variable association of hypocalcemia, craniofacial anomalies, cardiac defects, mental disability, growth retardation and abnormal T and B cell function. Affected individuals have an interstitial deletion of chromosome 22 q11. Although hypocalcemia is a cardinal symptom of the DGS, it is not always decreased at time of diagnosis. Aim: This work was designed to evaluate the frequency and the age of onset of hypocalcemia in patients with DGS confirmed by 22q11del. Patients and Results: Eighteen children (3 newborn, 4 infants, 11 children) with DGS were studied. As expected, craniofacial anomalies were detected in 17/18 cases, cardiac defects were present in 15/18 cases, mental disability in 8112 cases and growth retardation in 7/18 cases. Dysimmunity was present in 7/18. Hypocalcemia was noted in 8 children: calcium status is reported on the following table:[Table]. Conclusion: The analysis of 18 cases point out the large spectrum of presentation of DGS, from cases where the most prominant feature of syndrome is hypocalcemia to cases with asymptomatic latent or late-onset hypocalcemia. We propose to systematically include serum calcium in the care of patients with DGS especially during infancy, adolescence and even during potential pregnancy.