Year: 2024
Type: article
Study design: Case Report
Abstract: DiGeorge syndrome is a congenital primary immunodeficiency disorder resulting from failure of appropriate development of the third and fourth pharyngeal pouches during embryonic phase of development. DiGeorge syndrome usually presents with a clinical triad of immunodeficiency, congenital cardiac defects and hypocalcemia due to hypoparathyroidism. Here, we report a case of DiGeorge syndrome in a neonate with no associated facial dysmorphism and typical phenotype but initially presenting with apnea and suspected septic shock. Subsequent laboratory findings, clinical imaging and molecular genetic testing helped us to reach the diagnosis.
Source: Nepal Mediciti Medical Journal
Authors: Prasanna Babu Oli, Manish Shrestha, Suman Baral, Suchita Shrestha Joshi
Institution: Nepal Mediciti Hospital
Language: English
Subfield: Immunology
Field: Immunology and Microbiology
Domain: Life Sciences
Open Access status: hybrid
OpenAlex ID: W4406540861