We report a case of chronic acquired neuropathy predominantly affecting senso ry and autonomic nerves. Investigations showed a demyelinating polyradiculoneuro pathy with axonal degeneration and depletion of postgangli...We report a case of chronic acquired neuropathy predominantly affecting senso ry and autonomic nerves. Investigations showed a demyelinating polyradiculoneuro pathy with axonal degeneration and depletion of postganglionic noradrenergic fib ers in the rectal mucosa. Intravenous immunoglobulin and corticosteroid administ ration were effective in alleviating symptoms and improving electrophysiological abnormalities. This neuropathy may be a novel variant of chronic inflammatory d emyelinating polyradiculoneuropathy (CIDP), in which autoimmunoreactivity is directed not only against myelin but also against axon-or ganglion-compos ing protein. Autonomic nerve involvement does not exclude a diagnosis of CIDP.展开更多
A 44- day- old male infant with familial hemophagocytic lymphohistiocytosis (FHL) associated with the MUNC13- 4 mutation is reported. He presented with fever and poor feeding, lymphocytosis with thrombocytopenia and C...A 44- day- old male infant with familial hemophagocytic lymphohistiocytosis (FHL) associated with the MUNC13- 4 mutation is reported. He presented with fever and poor feeding, lymphocytosis with thrombocytopenia and CSF pleocytosis without virological explanation. On the basis of progressive hyperferritinemia (1.323 ng/ml), anemia (hemoglobin: 5.2 g/dl), hypertriglyceridemia (547 mg/dl) and increased LDH (1063 IU/l) with hemophagocytosis in the bone marrow, hemophagocytic lymphohistiocytosis was diagnosed. He showed a good response to corticosteroid therapy and the disease was stable for more than 5 months. Thereafter, he suffered from central nervous system complications, and successfully underwent unrelated cord blood stem cell transplantation. A remission was observed for more than 2 years, with mild mental retardation. Genetic analysis revealed that he had a compound heterozygous mutation of MUNC13- 4; namely a novel 2163G > A mutation resulting in W721X, and 754- 1G > C resulting in a premature stop codon in this gene. Western blot analysis showed the complete loss of the MUNC13- 4 protein, whereas other molecules associated with the SNARE systems were detected at normal levels. Conclusion. FHL may have a broad clinical spectrum, and further analysis on its phenotype- genotype association is required to establish an appropriate treatment strategy, including immunochemotherapy and stem cell transplantation in the future.展开更多
文摘We report a case of chronic acquired neuropathy predominantly affecting senso ry and autonomic nerves. Investigations showed a demyelinating polyradiculoneuro pathy with axonal degeneration and depletion of postganglionic noradrenergic fib ers in the rectal mucosa. Intravenous immunoglobulin and corticosteroid administ ration were effective in alleviating symptoms and improving electrophysiological abnormalities. This neuropathy may be a novel variant of chronic inflammatory d emyelinating polyradiculoneuropathy (CIDP), in which autoimmunoreactivity is directed not only against myelin but also against axon-or ganglion-compos ing protein. Autonomic nerve involvement does not exclude a diagnosis of CIDP.
文摘A 44- day- old male infant with familial hemophagocytic lymphohistiocytosis (FHL) associated with the MUNC13- 4 mutation is reported. He presented with fever and poor feeding, lymphocytosis with thrombocytopenia and CSF pleocytosis without virological explanation. On the basis of progressive hyperferritinemia (1.323 ng/ml), anemia (hemoglobin: 5.2 g/dl), hypertriglyceridemia (547 mg/dl) and increased LDH (1063 IU/l) with hemophagocytosis in the bone marrow, hemophagocytic lymphohistiocytosis was diagnosed. He showed a good response to corticosteroid therapy and the disease was stable for more than 5 months. Thereafter, he suffered from central nervous system complications, and successfully underwent unrelated cord blood stem cell transplantation. A remission was observed for more than 2 years, with mild mental retardation. Genetic analysis revealed that he had a compound heterozygous mutation of MUNC13- 4; namely a novel 2163G > A mutation resulting in W721X, and 754- 1G > C resulting in a premature stop codon in this gene. Western blot analysis showed the complete loss of the MUNC13- 4 protein, whereas other molecules associated with the SNARE systems were detected at normal levels. Conclusion. FHL may have a broad clinical spectrum, and further analysis on its phenotype- genotype association is required to establish an appropriate treatment strategy, including immunochemotherapy and stem cell transplantation in the future.
