Journal of pediatric hematology/oncology · 2003
Hematologic features and clinical course of an infant with Pearson syndrome caused by a novel deletion of mitochondrial DNA.
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Knerr Ina, Metzler Markus, Niemeyer Charlotte Marie, Holter Wolfgang, Gerecke Anja, Baumann Irith, Trollmann Regina, Repp Reinald
Аннотация
OBJECTIVE: Pearson bone marrow-pancreas syndrome (PS) is a rare, usually fatal mitochondrial disorder involving the hematopoietic system in early infancy. Due to the diversity of clinical symptoms, the diagnosis can be difficult. The authors describe a boy with severe hypoplastic anemia in whom extensive clinical, biochemical, and morphologic findings led to the diagnosis of PS, and molecular analysis revealed a novel deletion of mitochondrial DNA from nucleotide position 10.371 to 14.607.
METHODS: The patient is a 2-year-old boy who presented at age 5 months with hypoplastic macrocytic anemia. His first months of life and the family history were uneventful. Extensive pretransfusion evaluations did not reveal a metabolic, infectious, or hematologic-neoplastic etiology, and he had no evidence of exocrine pancreatic insufficiency. However, a second bone marrow aspirate at age 7 months showed a reduced cell number, vacuolated erythroblasts and myeloblasts, and ringed sideroblasts, so PS was suspected.
RESULTS: Additional molecular analysis from the boy's blood leukocytes revealed a deletion of mitochondrial DNA from nucleotide position 10.371 to 14.607, which was absent in his mother's blood cells, consistent with a sporadic mutation as commonly seen in PS. The muscle histology and the respiratory chain enzymes were normal.
CONCLUSIONS: Mitochondriopathies should be considered in children with persistent non-neuromuscular symptoms such as unexplained refractory anemia. Due to the often-fatal course of PS, the rapid detection of mitochondrial DNA deletions is imperative for diagnosis and family counseling.
METHODS: The patient is a 2-year-old boy who presented at age 5 months with hypoplastic macrocytic anemia. His first months of life and the family history were uneventful. Extensive pretransfusion evaluations did not reveal a metabolic, infectious, or hematologic-neoplastic etiology, and he had no evidence of exocrine pancreatic insufficiency. However, a second bone marrow aspirate at age 7 months showed a reduced cell number, vacuolated erythroblasts and myeloblasts, and ringed sideroblasts, so PS was suspected.
RESULTS: Additional molecular analysis from the boy's blood leukocytes revealed a deletion of mitochondrial DNA from nucleotide position 10.371 to 14.607, which was absent in his mother's blood cells, consistent with a sporadic mutation as commonly seen in PS. The muscle histology and the respiratory chain enzymes were normal.
CONCLUSIONS: Mitochondriopathies should be considered in children with persistent non-neuromuscular symptoms such as unexplained refractory anemia. Due to the often-fatal course of PS, the rapid detection of mitochondrial DNA deletions is imperative for diagnosis and family counseling.