Rare Diseases

All Items

• DOI: 10.12890/2025_005480

  Good’s syndrome revealed by recurrent sigmoid diverticulitis

  Hassene Attout, Jade Constant, Amel Abdelatif, Guillaume Barry, Olivier Halle

• DOI: 10.12890/2025_005456

  Successful pregnancy outcome in patient with Pompe disease despite discontinuation of enzyme replacement therapy

  Dunja Leskovar Lemešić, Dražen Perica, Gordan Zlopaša, Biserka Knezić Frković, Nediljko Šućur, Željko Reiner, Ivan Pećin

• DOI: 10.12890/2025_005387

  Adult-onset Still’s disease with dermatomyositis-like lesions

  Inés Segovia Rodríguez, Juan Vicente de la Sota, Alba Hernández Piriz, María Castillo Gutiérrez, Teresa López Bernal, Beatriz Aranegui Arteaga, Elena García Guijarro

• DOI: 10.12890/2025_005461

  Achalasia-associated superior mesenteric artery syndrome with massive gastric dilatation

  Zaim Gashi, Leutrim Shabani, Endrit Shatrolli

• DOI: 10.12890/2025_005345

  Fistula between the left anterior descending artery and the pulmonary trunk

  Paweł Święch, Przemysław Jaźwiec, Paweł Błaszkiewicz, Andrzej Bazan

• DOI: 10.12890/2025_005250

  Rosai-Dorfman disease preceding acute myeloid leukemia: an extremely rare case and a literature review

  Sara E. Marhoon, Ali H. Ali, Ali Husain, Salma Elashwah, Azza AbdelAziz, Mariam Elias

• DOI: 10.12890/2025_005154

  Full recovery over one year of the overlap syndrome scleromyositis to maintenance therapy with mycophenolate mofetil and rituximab, which relapsed within 8 months of discontinuation

  Inês Amarante, Catarina Faustino, Bruna Mota, Mariana Cascais, Jorge Almeida, Marta Valentim

• DOI: 10.12890/2025_005061

  Exploring ANCA Pathogenicity in Ulcerative Colitis: A Case Report Highlighting the Risk of Progression to ANCA-Associated Vasculitis

  Abir Hamid, Frederic Vandergheynst, Maxime Ilzkovitz

• DOI: 10.12890/2025_005355

  Autoantibodies directed against insulin receptor during the course of Castleman disease: a new case reaffirming autoimmune hypoglycemia as a relapse warning signal

  Xavier Jannot, Martine Auclair, Martin Martinot, Amin Maazouzi, David Boutboul, Corinne Vigouroux, Yannick Dieudonné

• DOI: 10.12890/2025_005372

  Juvenile dermatomyositis and hepatitis B viral infection

  Ali A. Younis, Ahmed A. Ahmed Al-Harbi