Perrault syndrome 5 is a rare autosomal recessive disorder that is characterized by the association of sensorineural hearing loss and ovarian dysgenesis in females with diversity of neurologic deficits due to variants of twinkle mtDNA helicase (TWNK) gene. Since neurologic deficits develop gradually, patient is often misdiagnosed with other neurological disease during early age. Herein, we report a case of genetically diagnosed Perrault syndrome 5.

Chronic expanding hematoma (CEH) is a hematoma that increases in size, usually occurring after trauma or surgery, more than a month after initial bleeding. Thighs and upper limbs are the most common sites of CEH. Only a few cases of CEH have been reported in the amputation stump site since CEH itself is a rare disease.We experienced a case of a 59-year-old man who underwent transtibial amputation and suffered from recurrent non-infectious hematoma. For the treatment of CEH, the patient underwent an open bursectomy, followed by bony spur removal surgery. However, CEH recurred, and the pain was only managed by intermittent aspiration and compression. We report a long journey of managing painful CEH of the transtibial amputation stump.

Objectives: Various sensory symptoms have been recognized after COVID-19 vaccination. Here, we aimed to explore the association between the suggestive symptom of restless legs syndrome (RLSss) and COVID-19 vaccination using an online survey. Methods: We prospectively studied participants who were working in our hospital after at least the first dose of the ChAdOx1 or BNT162b2 mRNA vaccine. The participants were invited via smartphone messages and voluntarily filled out an online questionnaire that included adverse events after vaccination. We considered the participants as having RLSss if they reported that they had three or more symptoms in the restless legs syndrome (RLS) diagnostic criteria. Results: A total of 628 participants (506 female; mean age, 37.7±12.4 years) responded fully to our online survey. 588 participants (93.6%) received the first dose of the ChAdOx1 vaccine (BNT162b2 mRNA vaccine for 40 participants). A total of 44 out of the 628 participants (7.0%) reported that they had RLSss. Myalgia was more common in participants with RLSss than in those without RLSss (97.7% vs. 67.3%, p<0.001). Multivariate testing showed that age (odds ratio, 1.037 per 1 year increase; 95% CI, 1.004–1.071) and the presence of myalgia (odds ratio, 20.479; 95% CI, 4.266–368.206) were associated with the presence of RLSss. Conclusions This pilot study explored RLSss after COVID-19 vaccination and the results suggested that RLS might be one of the causes of adverse symptoms after COVID-19 vaccination. Further studies are required to confirm the relationship between RLS and COVID-19 vaccination.

Despite its benign nature, chronic subdural hematoma (SDH) can be fatal if surgical intervention is delayed. Here, we report on bilateral chronic SDH in an 84-year-old man who died of duret hemorrhage in the brain stem and ischemia in the occipital and temporal lobes. We discuss the necessity for urgent surgical intervention to treat bilateral chronic SDH, and provide a review of the relevant literature.

Bertolotti’s syndrome is a congenital abnormality in which the expanded lower lumbar transverse process articulates with the ilium or sacrum. It is an important cause of low back pain in children and adolescents that is frequently misdiagnosed. We describe the case of a 17-year-old girl with low back pain who had a 4-year history of juvenile idiopathic arthritis. She subsequently underwent plain radiography and magnetic resonance imaging and was eventually diagnosed with Bertolotti’s syndrome. She was managed conservatively with 6 weeks of physical therapy and an exercise program, and her pain subsided.This case demonstrates the importance of considering anatomical and structural variants when evaluating low back pain in adolescents.

Bertolotti’s syndrome is a congenital abnormality in which the expanded lower lumbar transverse process articulates with the ilium or sacrum. It is an important cause of low back pain in children and adolescents that is frequently misdiagnosed. We describe the case of a 17-year-old girl with low back pain who had a 4-year history of juvenile idiopathic arthritis. She subsequently underwent plain radiography and magnetic resonance imaging and was eventually diagnosed with Bertolotti’s syndrome. She was managed conservatively with 6 weeks of physical therapy and an exercise program, and her pain subsided.This case demonstrates the importance of considering anatomical and structural variants when evaluating low back pain in adolescents.

OBJECTIVE: The aim of this study was to investigate the efficacy of globus pallidus interna deep brain stimulation (GPi-DBS) for treating dystonia due to the GNAL mutation. METHODS: We provide the first report of a dystonia patient with a genetically confirmed GNAL mutation in the Korean population and reviewed the literature on patients with the GNAL mutation who underwent GPi-DBS. We compared the effectiveness of DBS in patients with the GNAL mutation compared to that in patients with DYT1 and DYT6 in a previous study. RESULTS: Patients with the GNAL mutation and those with DYT1 had higher early responder rates (GNAL, 5/5, 100%; DYT1, 7/7, 100%) than did patients with DYT6 (p = 0.047). The responder rates at late follow-up did not differ statistically among the three groups (p = 0.278). The decrease in the dystonia motor scale score in the GNAL group was 46.9% at early follow-up and 63.4% at late follow-up. CONCLUSION: GPi-DBS would be an effective treatment option for dystonia patients with the GNAL mutation who are resistant to medication or botulinum toxin treatment.
Botulinum Toxins ; Deep Brain Stimulation ; Dystonia ; Follow-Up Studies ; Globus Pallidus ; Humans

Symptomatic neuromas after amputation can be troublesome to treat and make it difficult to properly fit a brace. Surgical management is required when conservative management such as prosthetic socket modification or local injections fail. However, small cutaneous nerves adhere to adjacent soft tissue and they are difficult to locate. The authors suggest that ultrasonography guided tattoo localization using a charcoal suspension is useful to find a visually indistinguishable neuroma.

OBJECTIVE: Neurodegeneration with brain iron accumulation (NBIA) represents a group of inherited movement disorders characterized by iron accumulation in the basal ganglia. Recent advances have included the identification of new causative genes and highlighted the wide phenotypic variation between and within the specific NBIA subtypes. This study aimed to investigate the current status of NBIA in Korea. METHODS: We collected genetically confirmed NBIA patients from twelve nationwide referral hospitals and from a review of the literature. We conducted a study to describe the phenotypic and genotypic characteristics of Korean adults with atypical pantothenate kinase-associated neurodegeneration (PKAN). RESULTS: Four subtypes of NBIA including PKAN (n = 30), PLA2G6-related neurodegeneration (n = 2), beta-propeller protein-associated neurodegeneration (n = 1), and aceruloplasminemia (n = 1) have been identified in the Korean population. The clinical features of fifteen adults with atypical PKAN included early focal limb dystonia, parkinsonism-predominant feature, oromandibular dystonia, and isolated freezing of gait (FOG). Patients with a higher age of onset tended to present with parkinsonism and FOG. The p.R440P and p.D378G mutations are two major mutations that represent approximately 50% of the mutated alleles. Although there were no specific genotype-phenotype correlations, most patients carrying the p.D378G mutation had a late-onset, atypical form of PKAN. CONCLUSIONS: We found considerable phenotypic heterogeneity in Korean adults with atypical PKAN. The age of onset may influence the presentation of extrapyramidal symptoms.
Adult ; Age of Onset ; Alleles ; Basal Ganglia ; Brain ; Dystonia ; Freezing ; Gait ; Gene Frequency ; Genetic Association Studies ; Humans ; Iron ; Korea ; Movement Disorders ; Neurodegenerative Diseases ; Pantothenate Kinase-Associated Neurodegeneration* ; Parkinsonian Disorders ; Phenotype ; Population Characteristics* ; Referral and Consultation ; Weather