Exploring the clinical spectrum of DiGeorge syndrome

Abstract

Introduction DiGeorge syndrome, known also as 22q11.2 deletion syndrome, is a rare multisystemic disorder characterized by a wide range of clinical features and may include thymic aplasia and subsequent immunodeficiency, conotruncal cardiac anomalies, typical facial features, palatal abnormalities, and hypocalcemia due to hypoparathyroidism.

Material and methods Data were collected for 10 patients genetically confirmed with DiGeorge syndrome at the Institute of Mother and Child. This included general information, laboratory results, and clinical features.

Results The mean age at diagnosis was 74.6 months (3 months – 28 years). Most cases were sporadic, with only 2 patients having a history of DGS (n=1), or close relatives with cardiac malformations (n=1). The most common symptoms that led to diagnosis were congenital heart defects (90%), and facial dysmorphism (90%). Common clinical features included recurrent infections (40%) and ENT disorders (20%). Weight was within normal percentiles for the entire group, but a delay in height growth was noted. Regarding the immunological characteristics: lymphopenia was recorded in 20% of patients, and thrombocytopenia in 2 patients.

Conclusions Given the diverse array of symptoms associated with DiGeorge syndrome, physicians should be knowledgeable about both typical and less common characteristics of the syndrome to facilitate optimal treatment and potentially enable early diagnosis.