Pearson Syndrome, A Medical Diagnosis Difficult to Sustain Without Genetic Testing.

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.