Inherited and Congenital Disorders

All Items

• DOI: 10.12890/2025_005928

  Hereditary combined deficiency of vitamin K–dependent clotting factors presenting as postoperative haemorrhage in a Syrian adolescent: a likely VKCFD type 2 phenotype

  Mahmoud Alhamadeh Alswij, Mais Musleh, Abdulhalim Mohamed Alyousef, Nizar Alsheekh Ahmad, Abdullatif AlStem , Hadi Ataya

• DOI: 10.12890/2025_005770

  Sudden tetraplegia from hypokalemic periodic paralysis due to cacna1s mutation: should genetic testing be performed more often?

  Simon Bedenbender, Jonas Einloft, Philipp Russ, Hendrik Leif Meyer, Jürgen R. Schäfer, Joachim Hoyer, Ivica Grgic

• 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_005706

  A very rare SETX gene variant (c.2750T>C) in a 72-year-old man with amyotrophic lateral sclerosis and an unremarkable family history. Should genetic testing be routinely performed in all patients?

  Andreas Posa, Malte Kornhuber

• 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_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_005345

  Fistula between the left anterior descending artery and the pulmonary trunk

  Paweł Święch, Przemysław Jaźwiec, Paweł Błaszkiewicz, Andrzej Bazan

• DOI: 10.12890/2025_005069

  A 50-year-old woman with severe resting hypoxia not amendable to high-flow oxygen supplementation

  Razi Even-dar, Reem Mhamid, Karwan Badarni, Evelyne Shabad, Yaron Bar-lavie, Yaniv Dotan

• DOI: 10.12890/2025_005248

  Acute bowel perforation post-bowel preparation in a patient with connective tissue disease

  Omar Brijawi, Spencer Jude, Evan Hartman, Richard Fox, Alex Kemei, Matthew Chakan

• DOI: 10.12890/2025_005044

  Scimitar syndrome: unveiling the complexities of a rare congenital cardiopulmonary anomaly

  Nargis Mateen, Abraam Rezkalla, Nagihan Orhun