A case report of a patient with recurrent and severe infections highlighting the importance of considering inborn errors of immunity.

Inborn errors of immunity (IEI) can often be misdiagnosed early in life due to their heterogenous clinical presentations. Interleukin-1 receptor-associated kinase 4 (IRAK-4) deficiency is one of the rare innate immunodeficiency disorders. We present the case of a patient who presented at the age of 15 days with meningitis and septic shock that responded to antibiotics. She was admitted again at the age of 45 days with pseudomonas aeruginosa bacteremia that was associated with increased inflammatory markers. Her third admission was at the age of 2.5 months due to left sided peri-orbital cellulitis that was again associated with elevated inflammatory markers. At 3.5 months, she experienced left orbital cellulitis, which was complicated by extensive sinus involvement, erosion, and abscess formation in the pterygopalatine fossa. Her condition progressed to septic shock and required multiple antibiotics and surgical interventions for drainage and control of the infection source. Both abscess and blood culture were positive for pseudomonas aeruginosa. An IEI was suspected but basic immunology testing was normal. Whole Exome Sequencing was performed and a novel mutation in IRAK4 was detected. In conclusion, we highlight the importance of raising awareness among pediatricians about the potentially lethal IEI and the need to consult specialists when these diseases are suspected. Among them is IRAK-4 deficiency which can be diagnosed by sophisticated functional assays and/or genetic testing.

An Unexpected GIST Causing Life-Threatening Bleeding after an Elective Hernia Repair.

Background Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal neoplasms of the alimentary tract. They are usually manifested by GI bleeding. Case Presentation A 53-year-old male patient was admitted to the hospital for elective inguinal hernia repair. The patient did not have any history of GI symptoms in the past. A day after open inguinal hernia repair, the patient developed recurrent attacks of hematemesis resulting in hemodynamic instability and admission to the intensive care unit. An upper GI endoscopy identified a small bleeding gastric lesion. After multiple failed attempts to control the bleeding endoscopically, an emergency exploratory laparotomy was performed. An unexpected large fungating bleeding gastric mass was detected. The mass measured approximately 40 × 30 cm, and multiple peritoneal deposits were also discovered. A wedge resection of the anterior gastric wall along with the mass was performed. Histopathology revealed a high-grade (G2) GIST. Discussion GISTs appear in variable sizes and may lead to a variety of complications including abdominal pain, GI obstruction, and bleeding. This case highlights the unexpected presentation and sudden bleeding of a large GIST in a totally asymptomatic patient undergoing elective hernia surgery. It also illustrates that GIST can be asymptomatic and grow to large sizes before developing clinical manifestations. Conclusion The case report highlights a common complication of GIST with unexpected timing, immediately after routine hernia surgery.

Congenital absence of the cystic duct: Case report of a rare anomaly and review of the literature.

INTRODUCTION AND IMPORTANCE: Congenital absence of the cystic duct is one of the rare types of anomalies associated with the extrahepatic biliary tract (EHBT). It is often an incidental finding intraoperatively leading to significant implications during the perioperative period. CASE PRESENTATION: A 25-year-old lady was admitted for an elective laparoscopic cholecystectomy indicated for recurrent symptoms of right upper quadrant pain with evidence of cholelithiasis on ultrasound. During laparoscopy, the cystic duct could not be identified. After retrieval of the gallbladder, a blind ending orifice resembling an obliterated cystic duct was discovered. CLINICAL DISCUSSION: Absence of the cystic duct can result from a congenital or an acquired process. In both cases, they are difficult to diagnose pre-operatively even though magnetic resonance cholangiopancreatography (MRCP) has shown great potential in delineating the EHBT. It confers an increased risk of injury to the surrounding biliary tract during cholecystectomy. Therefore, the surgical approach depends on the surgeon's operative competency and knowledge related to EHBT anomalies. CONCLUSION: Definitive treatment for patients with symptomatic absent cystic duct is an open cholecystectomy, given its increased likelihood of iatrogenic morbidity. Nonetheless, it is important to highlight that laparoscopic cholecystectomy may be performed if the surgeon carries sufficient skills.

Enterocutaneous fistula occurring 10 years after an open umbilical hernia repair with placement of an onlay polypropylene mesh: A case report.

INTRODUCTION: Ventral hernia repair is a common surgical procedure performed within the specialty of general surgery. Short and long term complications can arise after this procedure. Although rare, an enterocutaneous fistula may occur, leading to a significant morbidity and the possible need for surgical intervention. PRESENTATION OF CASE: We present a rare case of a 76 years old female, who presented with the sudden occurrence of an enterocutaneous fistula arising ten years after a primary umbilical hernia repair with placement of a polypropylene onlay mesh. She was also found to have a large recurrent umbilical hernia. She underwent a laparotomy with the identification of a mesh eroding into the small bowel lumen, causing an enterocutaneous fistula. An enterectomy was performed to remove the fistula with the mesh, and a small bowel anastomosis was created. DISCUSSION: Ventral hernia recurrence is associated with risk factors including old age, obesity, wound infection as well as the type and location of the mesh used. As in this case, enterocutaneous fistula after hernia repair can occur due to multiple factors including mesh migration and erosion into near-by structures including bowel. These risk factors can perhaps be modified to possibly reduce the incidence of complications like an enterocutaneous fistula. CONCLUSION: The case highlights a rare but serious complication associated with a ventral hernia repair. It also addresses key aspects with regards to the possible mechanisms involved in the occurrence of an enterocutaneous fistula following a hernia repair with the use of a synthetic mesh.