ABSTRACT
Neuroborreliosis usually presents with facial palsy and meningitis, but unspecific symptoms may also occur and can result in delayed diagnosis. We report on 3 children in whom persistent vomiting was the key clinical finding of neuroborreliosis.
Subject(s)
Lyme Neuroborreliosis/complications , Vomiting/etiology , Child , Child, Preschool , Female , Humans , MaleABSTRACT
The WT1 gene is considered to be highly expressed in patients with acute myeloid leukemia (AML), acute lymphoblastic leukemia and chronic myeloid leukemia and is thought to play a key role in maintaining the viability of leukemia cells. However, little is known about the WT1 gene expression levels in pediatric patients with juvenile myelo-monocytic leukemia (JMML) and myelodysplastic syndromes (MDS). We studied WT1 expression in diagnostic bone marrow (BM) and peripheral blood (PB) samples of 90 patients with JMML, low grade MDS, advanced MDS and myelodysplasia-related AML in BM (n = 20) and PB (n = 18) samples of normal healthy volunteer donors.
Subject(s)
Biomarkers, Tumor/analysis , Gene Expression , Leukemia, Myelomonocytic, Acute/diagnosis , Myelodysplastic Syndromes/diagnosis , WT1 Proteins/genetics , Anemia, Refractory, with Excess of Blasts/diagnosis , Bone Marrow/chemistry , Child , Humans , Leukemia, Myeloid, Acute/diagnosis , Neoplasm, Residual , RNA, Messenger/analysis , RNA, Messenger/blood , Reverse Transcriptase Polymerase Chain ReactionABSTRACT
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.
