Abd Alwahab Sura, Hasan Hussein Mohsin, Al-Fatlawi Nabeel, Al-Badri Sajjad Ghanim
Children Welfare Teaching Hospital, Medical City, Baghdad, Iraq.
College of Medicine, University of Baghdad, Baghdad, Iraq.
J Investig Med High Impact Case Rep. 2024 Jan-Dec;12:23247096241304534. doi: 10.1177/23247096241304534.
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.
本病例报告强调了一名19日龄新生儿所面临的诊断和治疗困境，该新生儿表现出提示慢性肉芽肿病（CGD）的特征。患儿有发热、嗜睡及皮肤肿物病史，鉴于初始经验性治疗无改善，需要进行广泛的诊断检查以排除感染性病因。包括影像学和基因研究在内的实验室检查确诊为CGD。除了疾病的极早期表现（这非常罕见）外，我们的病例强调了对患有严重感染的新生儿免疫缺陷疾病保持高度怀疑的重要性。该报告突出了这样一个事实，即对于有不明症状的新生儿，必须高度怀疑潜在的免疫缺陷，尤其是像CGD这样的疾病，并且在管理方面诊断必须是多学科的。考虑到新生儿CGD罕见的炎症并发症，本病例为儿科医学文献增添了重要数据。它强调在罕见的新生儿败血症和炎症性疾病病例中，关键的临床评估和详细的诊断程序是必不可少的。
