mtDNA Deletion in an Iranian Infant with Pearson Marrow Syndrome.
BACKGROUND
Pearson syndrome (PS) is a rare multisystem mitochondrial disorder of hematopoietic system, characterized by refractory sideroblastic anemia, pancytopenia, exocrine pancreatic insufficiency, and variable neurologic, hepatic, renal, and endocrine failure.


METHODS
We describe a six-month-old female infant with Pearson marrow syndrome who presented with neurological manifestations. She had several episodes of seizures. Hematopoietic abnormalities were macrocytic anemia and neutropenia. Bone marrow aspiration revealed a cellular marrow with marked vacuolization of erythroid and myeloid precursors. Analysis of mtDNA in peripheral blood showed 8.5 kb deletion that was compatible with the diagnosis of PS.


CONCLUSIONS
PS should be considered in infants with neurologic diseases, in patients with cytopenias, and also in patients with acidosis or refractory anemia.
Department of Pediatric Hematology- Oncology, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran.
Mohammad Taghi
MT
Arzanian
Aziz
A
Eghbali
Parvaneh
P
Karimzade
Mitra
M
Ahmadi
Massoud
M
Houshmand
Nima
N
Rezaei