We present the first case report of fragile X-associated tremor ataxia syndrome (FXTAS) in the Republic of Korea. A 75-year-old male developed progressive gait ataxia, parkinsonism, and a mood disorder. Magnetic resonance imaging revealed T2 high signal intensity within the middle cerebellar peduncles. Analysis of the fragile X mental retardation 1 gene revealed a CGG trinucleotide repeat number of 136. FXTAS should be considered when a patient has atypical parkinsonism, cerebellar ataxia, and specific MRI abnormalities.

We report a case of sudden sensorineural hearing loss with vertigo in a 68-year-old woman, who developed bacterial meningoencephalitis during steroid treatment. The patient initially showed severe degree of sensorineural hearing loss on the left side with spontaneous nystagmus beating toward the contralateral side. Brain magnetic resonance imaging demonstrated no abnormal finding other than high signal intensity in parts of mastoid air cells and mild mucosal hypertrophy of the paranasal sinuses. During the course of steroid treatment, the hearing worsened to profound hearing loss, and on the 6th day of steroid treatment, the patient demonstrated dysarthria and disorientation with subsequent development of high fever. The patient was diagnosed with bacterial meningoencephalitis and treated with antibiotics. The patient recovered without any neurologic deficit but unilateral profound hearing loss persisted. The case is presented here along with a possible pathogenic mechanism of bacterial meningoencephalitis following sudden sensorineural hearing loss in this patient.
Aged ; Anti-Bacterial Agents ; Brain ; Dysarthria ; Female ; Fever ; Hearing ; Hearing Loss ; Hearing Loss, Sensorineural* ; Humans ; Hypertrophy ; Labyrinthitis ; Magnetic Resonance Imaging ; Mastoid ; Meningoencephalitis* ; Neurologic Manifestations ; Paranasal Sinuses ; Vertigo*

Background & Objective: Recently, mutations in PRRT2 have been found to cause paroxysmal kinesigenic dyskinesia (PKD). However, only several reports have described the detailed clinical features of patients with the PRRT2 mutation compared to those without the mutation. Furthermore, 16p11.2 microdeletions including PRRT2 also have been reported in patients with PKD; however, it is unknown to what extent the PRRT2 deletion contributes to the development of PKD. Methods: We performed mutation screening in 29 Korean patients with PKD analyzing the sequence and gene dosage of PRRT2 and their clinical features. Results: Overall, genetic abnormalities in PRRT2 were identified in 7 patients (24%): 3 from the 6 familial cases (50%) and 4 from the 23 sporadic cases (17%). The previously reported c.649dupC and c.649delC were found in 5 and 1 patient, respectively, and a novel mutation c.323_324delCA was found in 1 patient. No patients had deletions involving the PRRT2 gene. Compared with the mutation-negative cases, the age of PKD onset was earlier in the mutation-positive cases. However, there were no differences in the other clinical features. A dystonia-only phenotype was reported only in the mutation-negative cases. Contrary to common belief that patients with PKD have an excellent response to carbamazepine, 3 mutation-positive patients taking carbamazepine reported only a partial response. Conclusions: PRRT2 is a common causative gene for Korean patients with PKD. Our results show that the incomplete response to carbamazepine does not exclude the PRRT2 mutation.

The oculogyric crisis is a type of acute dystonia characterized by the spasmodic movement of the eyeball, usually upward, and each spasm lasts from seconds to hours. This phenomenon can be caused by the administration of dopaminergic receptor blocking agents. There was a previous report of the oculogyric crisis induced by clebopride, a dopaminergic receptor blocking agent in a patient who took the medicine for several days. We report a 16-year-old female with an oculogyric crisis induced by a single administration of the same drug. Her oculogyric crisis was completely resolved by benzodiazepine