Wolfram Syndrome-2, a Cause of Severe Gastrointestinal Bleeding: A Case Series and a Literature Review.

Background: There are very few reports of Wolfram syndrome-2 (WFS2) in the literature, and understanding of involvement of the gastrointestinal (GI) tract in the syndrome is limited. Objectives: This study aims to describe the clinical presentations of a large number of WFS2 patients with specific focus on their GI manifestations. Methods: This is a retrospective case series study. Patients who were homozygous for the CISD2 gene mutation were identified through the genetic department of Al-Makassed hospital. Their medical records were reviewed, and biometric data have been obtained. The data were collected and arranged on a data sheet, and descriptive analysis was done using SPSS. Results: Thirteen patients from 9 families were identified; diabetes mellitus was present in 6 of them, optic atrophy in 5, diabetes insipidus (DI) in 5, and deafness in 2. All of the patients had GI manifestations with abnormal findings on upper endoscopy. Dysmorphic facial features and abnormal findings on brain MRI were present in 3 of our patients. The GI manifestations including GI bleeding and severe ulcerations were the first to appear in 9 of them, while anemia in the remaining 4. Conclusion: This is the largest study to date describing patients with WFS2. This study's evidence shows the prominent presence of GI involvement, and the severe findings on endoscopy, including duodenal, gastric, and esophageal ulcerations and strictures. Unlike in the Jordanian report, some of the patients in our report also have DI.

Successful surgical resection of a complicated left ventricular diverticulum in a neonate presented with unexplained anemia: a case report.

Congenital left ventricular diverticulum (LVD) is a rare congenital cardiac anomaly and may be complicated by fatal adverse events such as diverticulum rupture. Most LVD cases are asymptomatic and often discovered incidentally. Herein, we describe an unusual and peculiar clinical presentation with felicitous surgical management of ruptured LVD. Case presentations: A 10-day-old male infant presented with severe, intractable, and unexplained anemia associated with respiratory distress. Upon admission, the patient was clinically shocked with a hemoglobin level of 6.0 g/dl. As chest imaging showed cardiomegaly, echocardiography was performed and revealed a 9×10 mm diverticulum arising from the posterolateral wall of the left ventricle along with blood and clot collection in the pericardium. The patient underwent an urgent surgical resection of the diverticulum. He was followed up for 2 years without any readmissions or cardiac complaints. Clinical discussion: Systemic thromboembolism, heart failure, infarction, and tachyarrhythmias have all been reported as complications of LVD. The most serious complication is diverticulum rupture, which can result in death. As a result, this congenital defect should be discovered early to determine the potential risks and plan appropriate treatment. Conclusion: Congenital heart defects such as LVD should be suspected in neonates presenting with unexplained and intractable anemia. To avoid the diagnosis confusion and risk of serious complications in LVD patients, such as spontaneous rupture of the diverticulum, we advocate immediate surgical management of LVD in children.