Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013362 (dysarthria)
 3,768 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A patient with a unique form of large granular lymphocytosis and multiple cranial neuritis is reported. The patient presented with facial weakness, diplopia and dysarthria. An increase in large granular lymphocytes (LGLs) was seen in blood (1.8 x 10(9)/l), CSF (237/microliters) and bone marrow (20% in a normocellular bone marrow). The phenotype of the LGLs in CSF, blood and bone marrow was CD2+ CD3+ CD4+ CD8- CD16- CD56- and CD57-. The unique features of this case include the CD4+ phenotype, the relative abundance of CSF LGL and the clinical presentation.
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PMID:Multiple cranial neuritis associated with large granular lymphocytosis. 787 58

We report on a 48-year-old man with idiopathic hypertrophic cranial pachymeningitis (IHCP) manifesting headache, facial pain, and tongue pain with unilateral atrophy, dysarthria, and dysphagia. Although steroid therapy ameliorated these symptoms, they recurred after he developed steroid-induced diabetes mellitus. We treated the patient by lymphocytapheresis (LCP), which resulted in an improvement of his symptoms, a reduction in the CD4 lymphocyte population, a reduction of the CD4/CD8 ratio, and a reduced thickening of the dura mater that lasted for more than 14 months. Results presented here suggest that LCP can be effective in the treatment of IHCP.
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PMID:Long-term improvement of idiopathic hypertrophic cranial pachymeningitis by lymphocytapheresis. 1097 80

A 57-year-old male became aware of a subcutaneous tumor in March 2001. Histopathological examination showed peripheral T-cell lymphoma. He achieved complete remission after chemotherapy. Later the lymphoma relapsed in the subcutaneous lesion and chemotherapy was performed again. In April 2003, he developed diplopia, dysarthria, and dysphagia. Abnormal lymphoid cells were found in the cerebrospinal fluid. An immunophenotypical study disclosed that CD2, CD3, CD5, and CD8 were positive. Rearrangement of TCR was detected by Southern blotting. Cranial magnetic resonance imaging did not detect any intraparenchymal lesions, but thickening of multiple cranial nerves was detected. These nerves were homogeneously enhanced by gadolinium-DTPA. After intrathecal chemotherapy, atypical cells disappeared from the cerebrospinal fluid and thickening of the cranial nerves was resolved. Finally, lymphoma spread to the bone marrow, and the patient died in July 2003.
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PMID:Thickening of multiple cranial nerves in a patient with extranodal peripheral T-cell lymphoma. 1662 41

We report a sporadic case of hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) confirmed by biopsy and colony-stimulating factor 1 receptor (CSF1R) sequencing. A 28-year-old woman developed progressive spastic gait and dysarthria. Brain T2/FLAIR-weighted magnetic resonance imaging showed bilateral high signal intensity lesions in the parietal deep white matter, which subsequently extended anteriorly. Biopsied brain specimens demonstrated demyelinated white matter tissue with axonal spheroids infiltrated with foamy macrophages, and CD8(+) and CD4(+) T cells. She had a heterozygous mutation, c.2381T>C (p.782 Ile>Thr), in CSF1R. This is the first genetically proven case of HDLS mimicking primary progressive multiple sclerosis.
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PMID:A case of hereditary diffuse leukoencephalopathy with axonal spheroids caused by a de novo mutation in CSF1R masquerading as primary progressive multiple sclerosis. 2369 28