A variant of Zinner syndrome presenting with terminal hematuria: A case report

A case report of variant scimitar syndrome

Background: Scimitar syndrome (SS) or congenital pulmonary venolobar syndrome is a rare anomaly, most commonly including partial pulmonary venous drainage into the inferior vena cava, right lung hypoplasia, dextroposition of the heart, and anomalous systemic arterial supply from aorta or one of its branches to the right lung. Case report: A 10-day-old female infant was referred to our hospital...

Microduplication of Xp22.31 and MECP2 Pathogenic Variant in a Girl with Rett Syndrome: A Case Report

Rett syndrome (RS) is a neurodevelopmental infantile disease characterized by an early normal psychomotor development followed by a regression in the acquisition of normal developmental stages. In the majority of cases, it leads to a sporadic mutation in the MECP2 gene, which is located on the X chromosome. However, this syndrome has also been associated with microdeletions, gene translocations...

Mediastinal Neuroendocrine Carcinoma of Unknown Origin Presenting with Superior Vena Cava Syndrome (SVCS): A Case Report

Primary neuroendocrine carcinoma (NEC) of the mediastinum is a rare type of carcinoma. According to the literature, only five cases of this condition have been reported so far. In this paper, we present a rare case of mediastinal NEC of unknown primary site. The patient was a 34-year-old man with mediastinal NEC, who presented with chronic dry cough and a right-sided mediastinal mass one year p...

Basal cell nevus syndrome presenting as a tender mass of the jaw: A case report

A Rare Case of Eosinophilic Cholecystitis Presenting in a Patient with Thalassemia Intermedia; a Case Report

Eosinophilic cholecystitis is a rare inflammatory condition encountered in surgical cholecystectomy specimens. In terms of histopathology, it is defined by transmural infiltration of eosinophils composing more than 90% of leukocytes. We here report a case of 19-year-old male admitted with thalassemia intermedia and with severe left upper quadrant pain. The patient underwent open splenectomy and...