Palatoschisis, Schizophrenia and Hypocalcaemia: Phenotypic Expression of 22q11.2 Deletion Syndrome (DiGeorge Syndrome) in an Adult

Melissa Elise van der Meijs; Dave Henri Schweitzer; Henk Boom

doi:10.12890/2021_002411

Palatoschisis, Schizophrenia and Hypocalcaemia: Phenotypic Expression of 22q11.2 Deletion Syndrome (DiGeorge Syndrome) in an Adult

Eur J Case Rep Intern Med. 2021 Apr 9;8(4):002411. doi: 10.12890/2021_002411. eCollection 2021.

Authors

Melissa Elise van der Meijs¹, Dave Henri Schweitzer¹, Henk Boom¹

Affiliation

¹ Department of Internal Medicine, Reinier de Graaf Gasthuis, Delft, The Netherlands.

Abstract

22q11.2 deletion syndrome typically presents with congenital cardiac anomalies, immunodeficiencies and hypoparathyroidism. However, clinical findings vary greatly. We present the case of a 56-year-old man, with a history of cleft palate and schizophrenia, who was newly diagnosed with 22q11.2 deletion syndrome during an episode of hypocalcaemia. The syndrome is caused by developmental abnormalities of the embryonic pharyngeal arch system. Treatment of hypocalcaemia with oral calcium and vitamin D is usually sufficient.

Learning points: 22q11.2 deletion syndrome typically presents with congenital cardiac anomalies, immunodeficiencies and hypoparathyroidism.The syndrome has a variable phenotypic expression and can therefore remain unrecognised in adult patients with mild symptoms.22q11.2 deletion syndrome should be borne in mind, particularly as regards adult psychiatric patients.

Keywords: 22q11.2 deletion syndrome; DiGeorge syndrome; hypocalcaemia; hypoparathyroidism.