Riddles of the Newborn: DiGeorge Syndrome, Imperforate Anus, and the Enigma of Recurrent Infections

Abstract

DiGeorge syndrome, also recognized as 22q11.2 deletion syndrome, is a prevalent chromosomal microdeletion disorder characterized by atypical development of the third and fourth pharyngeal pouches, with associated consequences for concurrently developing structures. The resulting phenotypic spectrum is notably diverse. This case report depicts a 3-month-old male infant presenting with imperforate anus and recurrent infections. Prenatal ultrasonography showed congenital cardiac defects, mild bilateral hydronephrosis, and polyhydramnios without the inclusion of amniocentesis in the diagnostic process. Clinical examination revealed facial dysmorphism and imperforate anus. Further investigations detected hypocalcaemia, hypoparathyroidism, and cellular immunodeficiency. Echocardiography confirmed the presence of truncus arteriosus. The baby encountered a stormy period in the Neonatal Intensive Care Unit (NICU), complicated by recurrent infections, cardiac failure, and infantile erythroderma, ultimately leading to Pseudomonas aeruginosa septicemic shock. A Fluorescence In Situ Hybridization (FISH) analysis confirmed the presence of a 22q11.2 deletion, establishing the diagnosis of DiGeorge syndrome in this case. The multifaceted clinical presentation underscores the complexity of this syndrome, emphasising the importance of comprehensive evaluation and timely diagnosis for effective management and care.