Clinical masks of orphan diseases: Canavan disease (OMIM 271900): scientific review and case report
Keywords:orphan diseases, Canavan disease, prenatal diagnosis
In the article, the authors consider the problem of timely diagnosis of orphan diseases. Attention is drawn to clinical masks under which rare diseases can go through to expand the outlook of medical practitioners, since most orphan diseases go beyond the clinical manifestations of known diseases. Quite often, from the onset of clinical manifestations to the correct diagnosis, patients go a long way. An example is presented of a diagnostic path from the first clinical manifestations to the diagnosis in a child with a rare condition — Canavan disease.
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