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Abstract

CASE REPORTPearson Syndrome, A Medical Diagnosis Difficult to Sustain Without Genetic Testing by Lucia Sur, Emanuela Floca, Gabriel Samasca, Iulia Lupan, Cornel Aldea, Genel Sur

Background: The detection of sideroblastic anemia in a newborn may suggest developing Pearson syndrome. The prognosis of these patients is severe and death occurs in the first 3 years of life, so it is important to find new ways of diagnosis. Case Presentation: In the case of our patient the diagnosis was supported only at the age of 5 months, highlighting the difficulties of diagnosis at this age.
Conclusions: The diagnosis of Pearson syndrome with neonatal onset is difficult to sustain or even impossible at that age. This diagnosis can be confirmed and supported during disease progression.

DOI: 10.7754/Clin.Lab.2017.171017