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

From 1972 to 2002, we diagnosed and treated 22 cases of subacute sclerosing panencephalitis. We report on two pediatric patients with fulminant subacute sclerosing panencephalitis who had atypical clinical manifestations. In both patients diagnosis was confirmed by elevated titers of CSF and serum antimeasles antibodies. Patient 1 presented with behavioral disorder, dysarthria, and drop attacks, while Patient 2 presented with partial complex seizures. Mental difficulties, personality changes, or myoclonus were not noticed in Patient 2. In both our patients stage I was not prominent, and stage II was of shortened duration. In spite of treatment with isoprinosine and interferon-alpha, both our patients deteriorated rapidly and died 2.5 and 4 months, respectively, after the onset of neurologic symptoms. Both atypical presentation and rapid clinical course observed in our patients could cause problems in making final diagnosis of subacute sclerosing panencephalitis. Therefore, subacute sclerosing panencephalitis should be included in differential diagnosis of acute unexplained encephalopathic diseases.
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PMID:Fulminant subacute sclerosing panencephalitis:two cases with atypical presentation. 1367 25

Subacute sclerosing panencephalitis (SSPE) is a progressive neurological disorder of childhood and early adolescence caused by persistent defective measles virus. Clinical manifestations appear many years after the acute measles infection. The incidence of SSPE has substantially declined after the introduction of an effective vaccine. We report a case of a child with SSPE that began with atonia, dysarthria, and intellectual deterioration without the presence of any particular EEG anomalies. We have reported this girl who was affected by this severe affliction in the hope that, because of the rarity of SSPE, it would not go undiagnosed.
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PMID:Subacute sclerosing panencephalitis: a case report. 2131 32

Neurofibromatosis (NF) type I is a common autosomal dominant disease that principally affects the skin and peripheral nervous system. Neurofibromatosis type I associated multiple sclerosis is a very rare condition. A 28-year old NF1 man developed progressive spastic-ataxic gait, left side dysmetria, right internuclear ophthalmoplegia, spastic dysarthria. MRI of the brain depicted Dawson finger appearance demyelination of the corpus callosum and other multifoci demyelinating lesions typical for MS. CSF revealed high CSF protein with negative oligoclonal band. Visual evoked potential showed prolonged P100 latency, abnormal waveform and temporal dispersion bilaterally. The syndrome partially responded and stabilized with corticosteroid. Six months later progression of the syndrome characterized by paraparesis, bilateral cerebellar hemispheric syndrome and bilateral internuclear ophthalmoplegia occurred. Repeated MRI revealed more extensive white matter lesions extended into centrum semiovale. The progressive syndrome did not respond to corticosteroid. Primary progressive multiple sclerosis was diagnosed. Only thirteen cases with NF1 and multiple sclerosis have been described in the literature. The association has been hypothesized to be related to mutations in the neurofibromin protein or oligodendrocyte-myelin glycoprotein (OMgp) gene.
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PMID:Neurofibromatosis type I associated multiple sclerosis. 2159 39