Progressive myoclonic epilepsy (PME) is a heterogeneous neurogenetic disorder manifesting as progressive myoclonus, seizure, and ataxia. We report a case of PME caused by a novel DHDDS variant. Additionally, by reviewing the literature on DHDDS mutations, we compared the phenotype of our patient with previously reported phenotypes. We identified DHDDS (c.638G>A, p. Ser213-Asn) as a likely pathogenic variant. The literature review revealed 15 PME patients with DHDDS mutations from 13 unrelated families. According to previous studies, late-onset patients tend to have a slow-progressive disease course. Although his myoclonus and ataxia were adult onset, our patient experienced rapid disease aggravation.
Among 53,974 cases of measles that occurred during the 2000-2001 outbreak in Korea, the incidence of tuberculosis following measles was 47 cases per 214,949.6 person-years, which was significantly lower than that in the general population (standardized incidence ratio, 0.73; 95% confidence interval, 0.54-0.96). In conclusion, we did not find a positive relationship between measles and tuberculosis.
Painful legs and moving toes syndrome (PLMT) is a rare syndrome characterized by pain in the lower extremities and involuntary movements of single or multiple toes. A 29-year-old woman with lumbosacral intervertebral disc herniation complained of bilateral foot pain and involuntary toe movements for three months. This is the first case of PLMT in a young adult patient with a lumbosacral intervertebral disc herniation in Korea.
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