Rare Diseases

All Items

• DOI: 10.12890/2025_005812

  Necrotising pancreatitis in a patient with CREST syndrome: a rare autoimmune gastrointestinal complication

  Antonio Al Hazzouri, Philippe Attieh, George Ghaleb, Ahmad Khalil, Noura Chamchoum, Karam Karam, Elias Fiani

• DOI: 10.12890/2025_005822

  Uncontrolled Graves’ disease as a driver of amplified warfarin sensitivity

  Esraa Abdulla Ibrahim Ockba, Manar Elfatih Mohamed, Khadija Hafidh

• DOI: 10.12890/2025_005849

  When fatigue hides a metabolic myopathy: a case report of McArdle disease with molecular diagnosis

  Beatriz Teixeira Lima, André S. Carvalho, Ana Catarina Camarneiro, Bárbara A.M. Baptista, Ricardo Rocha Gomes, Marta Isabel Brás, Susana Magalhães

• DOI: 10.12890/2025_005700

  When the diaphragm fails: visual hallucinations due to isolated respiratory muscle weakness as a first manifestation of late-onset Pompe disease

  Caroline Van Lierde, Mathieu Brancaleone, Tom Cornelis, Karolien Weytjens, Kristl Claeys, Greet Hermans

• DOI: 10.12890/2025_005733

  A patient with VEXAS syndrome presenting with complete ophthalmoplegia

  James Krzowski, Luke Harvey, Emily Mitchell, Vivek Rajagopal

• DOI: 10.12890/2025_005721

  Higher doses of eculizumab may be beneficial in paroxysmal nocturnal haemoglobinuria in pregnancy

  Harshank Vishnubhai Patel, Steve Stone, Madison C. Laird, Vanita Motiani, Ayema Haque, MBBS, Hemasri Tokala, Akshay Amaraneni

• DOI: 10.12890/2025_005628

  A clever stroke mimic: thrombotic thrombocytopenic purpura without schistocytes – a case report and literature review

  Ko Takamatsu, Chalothorn Wannaphut, Kevin Benavente, Yoshito Nishimura, Christina Chong

• DOI: 10.12890/2025_005632

  When less could be more: successful treatment of granulomatous lymphocytic interstitial lung disease with azathioprine

  Ana Laura López, Diego Santiago Fernández Romero

• DOI: 10.12890/2025_005679

  Anti-N-methyl-D-aspartate receptor encephalitis presenting as isolated first-episode psychosis in a 16-year-old girl, complicated by neuroleptic malignant syndrome

  Ghizlane Khaloui, Amal Mabkhout, Linda Rachidi, Ghizlane Benjelloun

• DOI: 10.12890/2025_005520

  Trimethylaminuria in a 58-year-old male with liver cirrhosis and hepatitis C

  Martina Knapp