J Investig Med High Impact Case Rep. 2024 Jan-Dec;12:23247096241304534. doi: 10.1177/23247096241304534.
ABSTRACT
This case report underlines the diagnostic and therapeutic dilemmas in a 19-day-old neonate who had presented with features suggestive of chronic granulomatous disease (CGD). The baby had a history of fever, lethargy, and masses on the skin, for which an extensive diagnostic workup was needed to rule out infective etiology given no improvement with initial empiric therapy. Laboratory investigations, including imaging and genetic studies, confirmed the diagnosis of CGD. In addition to the very early manifestation of disease, which is quite rare, our case emphasizes the importance of maintaining a high index of suspicion for immunodeficiency disorders in neonates with severe infections. The report highlights the fact that a high level of suspicion for an underlying immunodeficiency, especially conditions like CGD, must be maintained in neonates with unexplained symptoms, and the diagnosis has to be multidisciplinary in terms of management. Considering its rare inflammatory complications in neonatal CGD, the present case adds important data to the pediatric medical literature. It emphasizes that critical clinical evaluation and detailed diagnostic procedures are mandatory in cases of rare neonatal sepsis and inflammatory disorders.
PMID:39644157 | DOI:10.1177/23247096241304534
