Md Rifin, Sakinah and Abd Rahman, Mohd Aizuddin and Jidin @ Mohd Tahar, Maznun and Mohamad Ishak, Nurul Najmi (2024) Riddles of the newborn: DiGeorge syndrome, imperforate anus, and the enigma of recurrent infections. Asian Journal of Medicine and Health Sciences, 7 (1). pp. 222-226. E-ISSN 2637-0603
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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.
| Item Type: | Article (Case Report) |
|---|---|
| Uncontrolled Keywords: | DiGeorge syndrome; 21q11.2 deletion syndrome; facial dysmorphism; hypocalcaemia. |
| Subjects: | R Medicine > R Medicine (General) R Medicine > RJ Pediatrics > RJ251 Newborn infants. Neonatology R Medicine > RJ Pediatrics > RJ59 Infant and neonatal morbidity and mortality |
| Kulliyyahs/Centres/Divisions/Institutes (Can select more than one option. Press CONTROL button): | Kulliyyah of Medicine > Department of Family Medicine (Effective: 1st January 2011) Kulliyyah of Medicine |
| Depositing User: | DR MOHD AIZUDDIN ABD RAHMAN |
| Date Deposited: | 05 Jun 2024 10:41 |
| Last Modified: | 05 Jun 2024 11:04 |
| URI: | http://irep.iium.edu.my/id/eprint/112464 |
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