The European Journal of Case Reports in Internal Medicine is an official Journal of the European Federation of Internal Medicine (EFIM), representing 37 national societies from 35 European countries.
The Journal’s mission is to promote the best medical practice and innovation in the field of acute and general medicine. It also provides a forum for internal medicine doctors where they can share new approaches with the aim of improving diagnostic and clinical skills in this field. View full aims and scopes.
EJCRIM welcomes high-quality case reports describing unusual or complex cases that an internist may encounter in everyday practice. The cases should either demonstrate the appropriateness of a diagnostic/therapeutic approach, describe a new procedure or maneuver, or show unusual manifestations of a disease or unexpected reactions. The Journal only accepts and publishes those case reports whose learning points provide new insight and/or contribute to advancing medical knowledge both in terms of diagnostics and therapeutic approaches. Case reports of medical errors, therefore, are also welcome as long as they provide innovative measures on how to prevent them in the current practice (Instructive Errors).
The Journal may also consider brief and reasoned reports on issues relevant to the practice of Internal Medicine, as well as Abstracts submitted to the scientific meetings of acknowledged medical societies.

EJCRIM utilizes the CNR-SOLAR system to permanently archive the Journal for purposes of preservation of research and it is also indexed on PubMed Central, Google Scholar, DOAJ and COPE

EJCRIM is a peer-reviewed publication. Access to published content is free.

Please note that starting from 1st March 2020 the publication fee will be 230 € (plus VAT 22%). Please contact the editorial office in case of doubts.

Miguel Trindade, Joana Carvalho, Mariana Barosa, João Serôdio, Ricardo Oliveira, Ana Furtado, Catarina Favas, José Delgado Alves

Wilson's disease is a rare autosomal recessive condition. A defect on the copper carrier protein ATP7B prevents the excretion of copper, which then accumulates in several organs. The prognosis of Wilson's disease is favourable if the diagnosis is made early. The Leipzig criteria standardized phenotypic classification and diagnostic criteria, thus simplifying the diagnostic approach. A search for ATP7B mutations is not necessary for diagnostic purposes and studies of genotype–phenotype correlation have not produced any conclusive evidence so far. More information is needed to reliably assess the prognosis for each patient. Here we describe a young patient with a combination of two mutational variants: c.3402del and c.3061-12T>A. To our knowledge, this is the first report of this compound heterozygote genotype.

2021: Vol 8 No 12