Fever of Unknown Origin Reveals a Missed Diagnosis of DiGeorge Syndrome in a 21-Year-Old Female

Cureus. 2022 Dec 9;14(12):e32355. doi: 10.7759/cureus.32355. eCollection 2022 Dec.


DiGeorge syndrome, caused by a microdeletion of the 22q11.2 region of chromosome 22, is a relatively rare condition. This syndrome can be difficult to recognize because a constellation of symptoms show different presentations. Most individuals diagnosed with this condition are identified in early childhood. With the emergence of new screening techniques, even fewer individuals with this syndrome are missed. Prior to these screening techniques, it was uncommon for patients to be diagnosed in adulthood. As a result, many internists, who focus only on the adult population, are unlikely to recognize and diagnose DiGeorge syndrome as the patient ages merely because it is not commonly diagnosed later in life. Early recognition and management are essential for the treatment of this condition. Here, we present the case of a 21-year-old woman diagnosed with DiGeorge syndrome as an adult.

Keywords: 22q11.2; adult diagnosis; chromosomal abnormalities; digeorge syndrome; immunodeficiency.

Publication types

  • Case Reports