临床和医疗病例报告

Gastric volvulus in conjunction with diaphragmatic hernia is an uncommon but life-threatening presentation that is usually associated with congenital para-esophageal hernia and traumatic diaphragm injury. However, it has been rarely described with cytoreductive surgery followed by hyperthermic intraperitoneal chemotherapy (HIPEC). We herein report the case of a 68-year-old woman presenting with signs and symptoms of acute upper gastro-intestinal (GI) obstruction with back and chest pain, 3 years after debulking surgery and HIPEC for peritoneal carcinomatosis secondary to advanced ovarian cancer. A diagnosis of gastric volvulus was established based on gastroscopy, barium swallow, and computed tomography (CT) scan, and urgent laparotomy revealed a rotated stomach adherent to the spleen and left diaphragm. After reduction, a diaphragmatic defect that was missed on CT scan was discovered and repaired, and the patient recovered uneventfully. Diaphragmatic hernia with gastric volvulus can occur many years after cytoreductive surgery and HIPEC despite initial diaphragm intactness, and should be suspected in this patient population when they present with upper GI obstruction.

Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and reduced bone mineralization density. The disorder is clinically and genetically heterogeneous. Here, we present a case of 12 years old boy who was presented to the pediatric emergency department of Al-Qunfudah general hospital at southwestern Saudi Arabia with multiple repeated fractures due to trivial trauma. He got his first fracture of the femur at the age of 6 years and within a short period, due to the multiple and repeated fractures that involved his long bones and vertebrae, he became handicapped, depending on a wheeled chair in his movement. Genetic testing confirmed that the boy has a homozygous pathogenic variant in the SERPINF1 gene, consistent with the genetic diagnosis of autosomal recessive OI type VI. Both parents showed the familial heterozygous pathogenic variant in the SERPINF1 gene confirming a carrier state. Here we are going to present the case and follow up its diagnosis by biochemical bone profile and genetic analysis. We conclude that OI-type VI is a rare, recessively inherited bone mineralization disorder that has no cure yet, but a challenging multidisciplinary management approach is warranted.

Green-blue Cytoplasmic Inclusions (GBI) in neutrophils and/or monocytes is a rare peripheral blood smears anomaly described in few case reports in patients with acute liver injury, lactic acidosis and recently with COVID-19. Referred to as “crystals of death”, these inclusions are associated with a critical prognosis and death shortly time after identification. Herein, we report a case of GBI finding in neutrophils, monocytes, myelocytes and metamyelocytes cytoplasm’s in a patient with COVID-19.

Purpose: Pneumatosis Cystoides Intestinalis (PCI) can be innocuous or fatal. Distinguishing pathologic etiology from benign is problematic. Physicians must cumulatively evaluate patient’s vital signs, clinical signs and symptoms, lab data and radiographic image to reach a management plan.

Methods: We present a case of an 83-year-old man with presentation of abdominal pain. We provided a review of the clinical manifestations, imaging data of this case, and the literature related to the PCI.

Results: A male patient had a history of cecum adenoma post with laparoscopic assisted right hemicolectomy 13 years ago, recurrent interstitial pneumonitis related to Nivolumab under methylprednisolone 4 mg use, and diabetes under acarbose control. This patient was admitted to the emergency department with right upper quadrant abdominal pain. A Computed Tomography (CT) scan showed PCI and ischemic colitis. Emergent explore laparotomy was performed and subtotal colectomy and small bowel resection due to incidental bowel ischemia under Indocyanine Green (ICG) image. Patient’s condition continued to deteriorate and expired on post-operative day 81.

Conclusion: For acute abdomen or sepsis condition, operation should be arranged due to suspicion of ischemia or necrosis. Laparoscopy can be considered if certain risk factors are presence. If ischemic colon is noted, small intestine should be assessed carefully, especially the ileum, due to higher possibility of small intestinal pathologic PCI.