DiGeorge syndrome presenting with imperforated anus and recurrent infections in neonatal period: a case report

• Main Authors: Md Rifin, Sakinah, Abd Rahman, Mohd Aizuddin, Jidin @ Mohd Tahar, Maznun, Mohamad Ishak, Nurul Najmi
• Format: Article
• Language: English
• Published: Academy of Family Physicians of Malaysia 2023
• Subjects: RA Public aspects of medicine; RJ251 Newborn infants. Neonatology
• Online Access: http://irep.iium.edu.my/107567/1/107567_DiGeorge%20syndrome.pdf; http://irep.iium.edu.my/107567/; https://e-mfp.org/issue/volume-18-supplement-2/

DiGeorge syndrome or 22q11.2 deletion syndrome (22q11.2 DS) is the most common chromosomal microdeletion disorder. Signs and symptoms are associated with abnormal development of 3rd and 4th pharyngeal pouches. Early diagnosis in primary care through prenatal ultrasound and combined management with multidisciplinary team improve the quality of life of a patient with this rare syndrome. We describe a 3-month old child who presented with imperforated anus and recurrent infections since early neonatal period. Prenatally, ultrasound revealed a few congenital anomalies but not proceeded with amniocentesis. His Neonatal Intensive Care Unit (NICU) stay was stormy with recurrent episodes of infections, cardiac events and dermatological issue. He succumbed to death due to septicemic shock secondary to Pseudomonas Aeruginosa bacteremia. Fluorescent in situ hybridization (FISH) was performed which confirmed the diagnosis 22q11.2 deletion. Early diagnosis and combined management through a multidisciplinary and coordinated care plan improves the quality of life of a patient with this rare syndrome.