Rare Diseases

All Items

• DOI: 10.12890/2023_004215

  A rare case of immunoglobulin G4-related disease presenting with coronary artery pseudotumor and aneurysm

  Sukrisd Koowattanatianchai, Nichakarn Teawprasert, Sornsupha Limchareon, Yodying Kaolawanich

• DOI: 10.12890/2023_004157

  Familial renal glucosuria presenting as paroxysmal glucosuria and hypercalciuria due to a novel SLC5A2 heterozygous variant

  Robin Van Lerberghe, Elien Mahieu, Johan Vanuytsel, Karen Vanhaute, Celine Vanfraechem, Laurens Claeys

• DOI: 10.12890/2023_004077

  A rare case of paraneoplastic Guillain-Barré syndrome in a patient with endometrial cancer

  Asif Mohamed Farook, Dilshan Priyankara, Chamali Aluwihare, Anthony Mendis

• DOI: 10.12890/2023_004098

  Long-term tolerance and efficacy of siltuximab (anti-IL-6) in a young adult with idiopathic multicentric Castleman disease during COVID-19

  Helbies Bedier, Stéphane Isnard, Chelsea Maedler-Kron, Jean-Pierre Routy

• DOI: 10.12890/2023_004047

  Incidentally diagnosed large asymptomatic Morgagni hernia in adult male patient

  Shqipe Misimi, Arben Shurlani, Andrej Nikolovski

• DOI: 10.12890/2023_003949

  Guillain-Barré syndrome complicated by posterior reversible encephalopathy syndrome and reversible cerebral vasoconstriction syndrome

  Haruka Kobayashi, Yoji Hoshina, Hidemasa Higa, Takashi Watari

• DOI: 10.12890/2023_003994

  Primary central nervous system lymphoma complicated by cerebral venous sinus thrombosis: a case report

  Teresa Medeiros, Sofia Sequeira, Manuela Mendes, Fátima Hierro, Sara Duarte

• DOI: 10.12890/2023_003960

  Spontaneous periodic hypothermia with confirmed epilepsy: a report of two cases

  Pierre Rossignon, Kenza El Alaoui, Alain Soupart

• DOI: 10.12890/2023_003974

  Anti-N-methyl-D-aspartate receptor encephalitis, a diagnosis not to miss

  Tiago Valente, Gisela Gonçalves, Valter Duarte, Gorete Jesus

• DOI: 10.12890/2023_003816

  A rare case of stroke as a complication after percutaneous mechanical thrombectomy in a patient with intermediate-high risk pulmonary embolism and patent foramen ovale

  Marina López-Rubio, Aurora Gómez-Tórtola, Iago Sousa-Casasnovas, Jorge García-Carreño, Marta Vales-Montero, Crhistian Mario Oblitas, Pablo Demelo-Rodríguez, Francisco Galeano-Valle