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

Md Rifin, Sakinah and Abd Rahman, Mohd Aizuddin and Jidin @ Mohd Tahar, Maznun and Mohamad Ishak, Nurul Najmi (2023) DiGeorge syndrome presenting with imperforated anus and recurrent infections in neonatal period: a case report. Malaysian Family Physician, 18 (Suppl. 2). pp. 38-39. ISSN 1985-207X E-ISSN 1985-2274

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Abstract

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.

Item Type:	Article (Case Report)
Uncontrolled Keywords:	DiGeorge Syndrome, microdeletion, ultrasound
Subjects:	R Medicine > RA Public aspects of medicine R Medicine > RJ Pediatrics > RJ251 Newborn infants. Neonatology
Kulliyyahs/Centres/Divisions/Institutes (Can select more than one option. Press CONTROL button):	Kulliyyah of Medicine Kulliyyah of Medicine > Department of Family Medicine (Effective: 1st January 2011)
Depositing User:	DR MOHD AIZUDDIN ABD RAHMAN
Date Deposited:	21 Oct 2023 09:33
Last Modified:	05 Jan 2024 09:34
URI:	http://irep.iium.edu.my/id/eprint/107567

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