Diagnostic Issues

All Items

• 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_005804

  Haemoptysis in a patient with COPD due to right bronchial artery dilation

  Ayesha Banu Athur Jaffar, Mohammad Kais Jawish, Yazan Yamen Rabah, Abdullah Al Antabli, Leena Abdelrahman, Alaadin Hakim

• DOI: 10.12890/2025_005834

  Gastric melanoma in a 19-year-old patient: a rare case and a review of diagnostic pitfalls

  Jinane Kharmoum, Mohamed El Jiar, Imane Eliahai, Hassan Ouaya, Sanae Chaib, Ihssane Mellouki, Mariame Chraibi

• DOI: 10.12890/2025_005777

  Cytomegalovirus viremia as a cause of fever of unknown origin in an immunocompetent adult

  Aaron Naveen Joseph, Samuel VanBeck, Nooria Saif, Tahreem Ahmad, Islam Younes

• DOI: 10.12890/2025_005677

  Respiratory-predominant relapsing polychondritis: the role of PET scan in making this challenging diagnosis

  Daniela Alves, João Fonseca, Miguel Martins, Valter Duarte, Gisela Gonçalves, Pedro Lopes

• DOI: 10.12890/2025_005740

  Isolated thrombocytopenia as the initial and sole manifestation of bone marrow b-cell lymphoma in an elderly female

  Muhammad Mohsin Zahoor, Hira Gul, Abdul Mannan, Brian Casserly

• DOI: 10.12890/2025_005741

  Severe hypoalbuminaemia after Roux-en-Y gastric bypass: a diagnosis of exclusion

  Catarina Santos Reis, Ana Filipa Lopes, Francisco Santos Dias, Marta Soares Carreira, Jorge Almeida

• DOI: 10.12890/2025_005756

  The balance between autoimmunity and infection: a case report of concomitant pathology of pulmonary nocardia and granulomatosis with polyangiitis at initial presentation

  Abdulrahman Abdullah Alhumaidi, Eid Mohammed Aljohani, Wajd Ahmed Althakafi, Ohud Mohammed Alkinani, Faisal Abdullah Albalawi

• DOI: 10.12890/2025_005657

  Potential pharmacokinetic interaction between enteral nutrition and valproic acid

  Natalí Giselle Lara-Gonzalez, Iván Alejandro Díaz-Rengifo, Ana Isabel Terleira Fernández, María Rosario Salas-Butrón