BMC Pediatrics最新文献

Background: Duplication cysts are benign congenital anomalies of the gastrointestinal tract. Most manifest with symptoms within the first two years of life, and the majority are diagnosed in children (1). The clinical manifestations of duplication cysts vary depending on their location, size, and the presence of heterotopic mucosa. The most common location for these cysts is the ileum, although they can also occur in the stomach, duodenum, jejunum, colon, and rectum (2). Complications such as volvulus, intussusception, recurrent hemorrhage, and malignant degeneration have been reported (3). Despite advances in preoperative imaging, establishing a definitive diagnosis remains challenging. Enteric duplication cysts may rarely be associated with Salmonella infection and, in exceptional cases, postoperative bacteremia. Recognizing this possibility is crucial for optimal patient care.

Case presentation: A 3-year-old boy presented with a 3-day history of intermittent, diffuse abdominal pain. Although initial investigations were nonspecific, he was diagnosed with an ileal duplication cyst and underwent complete cyst resection during exploratory laparotomy. Macroscopic and microscopic examinations confirmed a duplication cyst comprising intestinal mucosa and muscle layers. On postoperative day 1, he developed Salmonella group C1 bacteremia and completed a 10-day course of ceftriaxone before discharge.

Conclusion: We report a case of a non-communicating ileal duplication cyst in a 3-year-old boy, complicated by partial bowel obstruction and Salmonella group C1 bacteremia. To our knowledge, this represents the first documented case of proven Salmonella bacteremia temporally associated with surgical manipulation of an ileal duplication cyst.

Background: Hereditary Hemorrhagic Telangiectasia is an autosomal dominant vascular disorder with clinical features of recurrent epistaxis, mucocutaneous telangiectasias, or visceral arteriovenous malformations, yet its early signs may be overlooked in children.

Case presentation: We report a family in which a fifteen-year-old boy and his mother presented for genetic evaluation of recurrent epistaxis, after his previously well seven-year-old sister demised suddenly from likely spontaneous atraumatic intracranial hemorrhage (diagnosed clinically without confirmatory post-mortem imaging), following a brief history of headache and vomiting. The mother had a background of infrequent nosebleeds and a family history of recurrent epistaxis in multiple maternal relatives. Genetic testing identified heterozygosity for NM_001114753.3(ENG): c.1134G > A (p.Ala378=), a ClinVar classified pathogenic variant, confirming the diagnosis of hereditary hemorrhagic telangiectasia. Cascade testing for her two surviving children was done. Her fifteen-year-old son tested positive and was found on subsequent screening to have intracranial vascular malformations which were treated presymptomatically with gamma knife surgery. Her other son tested negative.

Conclusion: This case emphasizes the importance of prompt recognition of hereditary hemorrhagic telangiectasia in children presenting with recurrent epistaxis and highlights the need for thorough family history. Pediatricians play a crucial role in early diagnosis and referral for genetic testing with subsequent surveillance imaging. Early identification may possibly reduce the risk of unfavorable outcomes such as intracranial hemorrhage. This case emphasizes the need for heightened awareness of hereditary hemorrhagic telangiectasia in pediatric practice and supports the value of integrating genetic cascade testing and organ-specific screening in at-risk children, even before symptoms appear.

Background: Hematopoietic stem cell transplantation (HSCT) is integral to the management of pediatric hematologic malignancies and non-malignant disease, but infection is a significant cause of morbidity and mortality. The purpose of this study is to assess the application of antimicrobial agents in pediatric HSCT.

Methods: This multicenter retrospective observational cohort study was conducted across 21 hospitals in China. We included pediatric patients who underwent HSCT and received antimicrobial treatment between January 2023 and April 2024. The study collected and analyzed data on patients' disease types, antibiotic use, antifungal drug use, and treatment durations, with subgroup analysis based on age. Statistical analysis was performed using Python 3.13.

Results: We included a total of 186 patients with 73 patients in the tumor group and 113 patients in the non-tumor group. The most frequent disease in the tumor group was acute lymphoblastic leukemia (37 patients, 50.68%), and the most frequent disease in the non-tumor group was mucopolysaccharidosis (48 patients, 42.48%). The antibiotic piperacillin-tazobactam (136 prescriptions, 63.85%) and antifungal agents fluconazole (118 prescriptions) and voriconazole (72 prescriptions, 36.36%) were the most frequently applied antibiotics and antifungal agents, respectively. In patients receiving antibacterial therapy, the median treatment period was 10 days, and the majority of patients were found to have treatment periods of between 7 and 14 days. This corresponded to a non-significant trend toward longer treatment in school-age children compared with infants (10 vs. 8 days).

Conclusion: In pediatric HSCT recipients, antibacterial and antifungal therapy is predominantly broad-spectrum with moderate durations; school-age children have slightly longer courses without significant differences.