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- Title
Pearson Syndrome, A Medical Diagnosis Difficult to Sustain Without Genetic Testing.
- Authors
Sur, Lucia; Floca, Emanuela; Samasca, Gabriel; Lupan, Iulia; Aldea, Cornel; Sur, Genel
- Abstract
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.
- Subjects
PEARSON marrow-pancreas syndrome; NEONATAL anemia; DISEASE progression; EXOCRINE pancreatic insufficiency; PANCYTOPENIA
- Publication
Clinical Laboratory, 2018, Vol 64, Issue 3, p375
- ISSN
1433-6510
- Publication type
Case Study
- DOI
10.7754/Clin.Lab.2017.171017