1. Pearson's marrow-pancreas syndrome in 2 Turkish children.
- Author
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Gürgey A, Rötig A, Gümrük F, Cemeroğlu P, Sarialioğlu F, and Altay C
- Subjects
- Anemia, Refractory ethnology, Anemia, Refractory genetics, Anemia, Sideroblastic ethnology, Anemia, Sideroblastic genetics, Base Sequence, Bone Marrow Diseases ethnology, Bone Marrow Diseases genetics, Chromosome Deletion, DNA, Mitochondrial analysis, DNA, Mitochondrial genetics, Diagnosis, Differential, Female, Humans, Infant, Male, Molecular Sequence Data, Pancreatic Diseases ethnology, Pancreatic Diseases genetics, Syndrome, Turkey, Anemia, Refractory diagnosis, Anemia, Sideroblastic diagnosis, Bone Marrow Diseases diagnosis, Pancreatic Diseases diagnosis
- Abstract
Two unrelated infants, 1 female and 1 male, with Pearson's syndrome are presented. Both patients presented with severe macrocytic refractory anemia starting early in infancy. Investigation of the mitochondrial (mt), DNA showed that one of the patients had a 4,977 bp deletion, and the other had a 4.5 kb mtDNA deletion. It is concluded that Pearson's syndrome should be borne in mind in the differential diagnosis of refractory anemia especially when there are accompanying gastrointestinal disturbances and metabolic acidosis.
- Published
- 1992
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