[DiGeorge syndrome with 22q11.2 deletion in a patient of Rarámuri ethnicity].

Abstract

Background: 22q11 deletion syndrome consists of a variable grouping of phenotypic features and immunological defects secondary to the loss of genetic material located in the 22q11.2 band. The 22q11 deletion spectrum encompasses different syndromes related to the same etiology and with overlapping anomalies, including DiGeorge syndrome, velocardiofacial syndrome, among others.

Case report: A 6-month-old male patient of indigenous Rarámuri ethnicity was referred to the Children's Specialty Hospital of Chihuahua due to severe malnutrition and respiratory distress. Upon admission, a grade V/VI holosystolic murmur and global neurodevelopmental delay were detected. He required endotracheal intubation and was admitted to the Pediatric Intensive Care Unit, where he had a long hospital stay. Some type of inborn error of immunity was suspected due to infectious processes, congenital heart disease, and evidence of facial dysmorphisms (malar hypoplasia, narrow palpebral fissures, tubular-like nose, and small mouth with high-arched palate), in addition to DiGeorge syndrome.

Conclusions: 22q11 deletion syndrome causes heterogeneous clinical manifestations, including multiple cardiac abnormalities and chronic diseases. In the Rarámuri population, there are currently no reports of this type of inborn error of immunity, so our patient exemplifies the need to intentionally search for these disorders, especially in those with severe infections, heart disease, and distinctive morphological characteristics. Disease detection programs are necessary, particularly in vulnerable populations.