The European Journal of Case Reports in Internal Medicine is an official Journal of the European Federation of Internal Medicine (EFIM), representing 36 national societies from 34 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 1 September 2022 the publication fee will change to 300 € + 22% VAT. 

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Marcus Villander Barros de Oliveira Sá, Flavio José Siqueira Pacheco, Jorge Luiz Carvalho Figueredo, Gustavo Henrique de Sá Miranda Cavancante Filho, Thiago de Oliveira Silva, Luydson Richardson Silva Vasconcelos

We report the case of a 70-year-old man diagnosed with late-onset Wilson disease (WD) with mild neurological symptoms only and a new mutation in the ATP7B gene. A compound mutation of the ATP7B gene was found with the variant c.98T>C p(Met33Thr) in exon 2, in heterozygosis, and variant c.2224G>A (Val742Ile) in exon 8, in heterozygosis. Patient age should not be a determinant for excluding WD. Genetic sequencing is an important tool for the discovery of new genetic mutations.

2022: Vol 9 No 10