A clinical case of 22q11.2 deletion syndrome in a child with congenital laryngeal membrane complicated by cyclic vomiting syndrome

DiGeorge syndrome, also known as 22q11.2 deletion syndrome (D 82.1, MIM#188400), is one of the most common chromosomal mutations in the human population, associated with abnormalities in the development of the 3rd and 4th pharyngeal pouches and pharyngeal arches, resulting in conotruncal heart defects, hypoparathyroidism and cellular immunodeficiency, which form a triad of major manifestations. Among the 180 clinical signs of DiGeorge syndrome, rare developmental anomalies of the larynx, particularly its congenital membrane, are also described. The laryngeal membrane following by scar stenosis in the anterior third of the vocal cords may cause vomiting due to constant irritation of the laryngeal mechanoreceptors with subsequent reflex stimulation in the vomiting centre. This article presents a clinical case of DiGeorge syndrome in a child with congenital laryngeal membrane complicated by cyclic vomiting syndrome. Despite the absence of congenital heart disease and hypoparathyroidism characteristic of DiGeorge syndrome, the genetic diagnosis of microdeletion on chromosome 22 was established in early childhood. Key words: immunodeficiency, DiGeorge syndrome, chromosome 22 deletion, congenital laryngeal membrane, laryngeal stenosis, vomiting reflex, vomiting syndrome