Solitary sclerosis presenting as isolated spontaneous paroxysmal dysarthria.
Ontology highlight
ABSTRACT:
SUBMITTER: Xia Y
PROVIDER: S-EPMC6382995 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description: Not available
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Project description:Dystrophia myotonica (DM) type 1 is an autosomal dominant disorder, caused by a trinucleotide CTG repeat expansion in the 3' untranslated region of the dystrophia myotonica protein kinase (DMPK) gene (chromosome 19q13.3). The disorder affects different organ systems, including the skeletal muscles, ocular lens, lungs, heart and gastrointestinal tract, as well as the endocrine and central nervous systems. The skeletal muscles are most frequently involved, whereby the disorder manifests as myotonia, muscle weakness and amyotrophy. However, DM type 1 presenting with dysarthria is rare. The current study presents a case of a 28-year-old male with DM type 1 presenting with dysarthria and associated multifocal hyperintense lesions in the white matter. Although electromyogram measurements identified myotonic discharges in all extremities, a muscle biopsy failed to detect the characteristic pathological features of DM type 1. A lack of a positive family history for DM type 1 also obscured diagnosis. However, genetic analysis detected a single allele in the P12 segment of the DMPK gene that included a CTG expansion of 13 repeats and a three-base gradient fragment in the P134 segment that included a CTG expansion of >600 repeats. According to the characteristics of dysarthria, multifocal hyperintense lesions in the white matter, electromyogram measurement results and genetic testing results, a diagnosis of DM type 1 was confirmed.
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Project description:BACKGROUND Neurocysticercosis is the most common central nervous system infection in developing countries. A wide array of clinical manifestations, ranging from asymptomatic to severe neurological symptoms, is observed in patients diagnosed with neurocysticercosis, depending on the number of lesions, cyst location, cyst stage, parasite genotype, and host immunity. CASE REPORT We report the case of a 25-year-old Burmese man who presented with focal seizure and secondary generalized tonic-clonic seizure. Brain imaging studies revealed a 1-cm cyst, which showed rim enhancement, an eccentric scolex, and surrounding brain edema at the left superior frontal gyrus. His serum cysticercus antibody was positive. Thus, the patient was diagnosed with solitary neurocysticercosis based on clinical manifestations, neuroimaging findings, and positive serology. The patient received anti-parasitic and anti-seizure medications before surgical excision of the cyst via computed tomography (CT) scan navigation. Stereomicroscopic examination of the cyst revealed a parasite larva in a fluid-filled cyst, containing a scolex with hooks and 4 suckers, identical to that of Taenia solium. Molecular characterization of the parasite based on T. solium cytochrome c oxidase subunit 1 (COX-1) gene identified the species as being 99.7% identical to T. solium Asia genotype previously reported from pigs in Thailand. CONCLUSIONS Although the prevalence of neurocysticercosis seems to be declining, sporadic cases have been reported throughout the world and the prevalence may be underestimated. Differential diagnosis of neurocysticercosis in patients presenting with adult-onset epilepsy should be considered in disease-endemic areas.
| S-EPMC8931703 | biostudies-literature
Project description:Introduction/aimsGiven the widespread use of the Amyotrophic Lateral Sclerosis Functional Rating Scale-Revised (ALSFRS-R) to measure disease progression in ALS and recent reports demonstrating its poor sensitivity, we aimed to determine the sensitivity and specificity of the ALSFRS-R bulbar subscale and speech item to detect validated clinical ratings of dysarthria in individuals with ALS.MethodsPaired ALSFRS-R and validated Speech Intelligibility Test (SIT) data from individuals with ALS were analyzed. Trained raters completed duplicate, independent, and blinded ratings of audio recordings to obtain speech intelligibility (%) and speaking rate (words per minute, WPM). Binary dysarthria profiles were derived (dysarthria ≤96% intelligible and/or <150 WPM). Data were obtained using the Kruskal-Wallis test, receiver-operating characteristic (ROC) curve, area under the curve (AUC), sensitivity and specificity percentages, and positive/negative predictive values (PPV/NPV).ResultsA total of 250 paired SIT and ALSFRS-R data points were analyzed. Dysarthria was confirmed in 72.4% (n = 181). Dysarthric speakers demonstrated lower ALSFRS-R bulbar subscale (8.9 vs. 11.2) and speech item (2.7 vs. 3.7) scores (P < .0001). The ALSFRS-R bulbar subscale score had an AUC of 0.81 (95% confidence interval [CI] 0.75 to 0.86). A subscale score of ≤11 yielded a sensitivity of 86%, specificity of 57%, PPV of 84%, and NPV of 60% to correctly identify dysarthria status. The ALSFRS-R speech item score demonstrated an AUC of 0.81 to detect dysarthria (95% CI 0.76 to 0.85), with sensitivity of 79%, specificity of 75%, PPV of 89%, and NPV of 58% for a speech item cutpoint of ≤3.DiscussionThe ALSFRS-R bulbar and speech item subscale scores may be useful, inexpensive, and quick tools for monitoring dysarthria status in ALS.
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