Although the KMT2B gene was identified as a causative gene for early-onset generalized dystonia, the efficacy of deep brain stimulation (DBS) in KMT2B-related dystonia has not been clearly elucidated. Here, we describe a 28-year-old woman who developed generalized dystonia with developmental delay, microcephaly, short stature, and cognitive decline. She was diagnosed with KMT2B- related dystonia using whole-exome sequencing with a heterozygous frameshift insertion of c.515dupC (p.T172fs) in the KMT2B gene. Oral medications and botulinum toxin injection were not effective. The dystonia markedly improved with bilateral pallidal DBS (the Burke-Fahn-Marsden Dystonia Rating Scale score was reduced from 30 to 5 on the dystonia movement scale and from 11 to 1 on the disability scale), and she could walk independently. From this case, we suggest that bilateral globus pallidus internus DBS can be an effective treatment option for patients with KMT2B-related generalized dystonia.

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

OBJECTIVE: Tremor is a common movement disorder that interferes with daily living. Since the medication for tremor has some limitations, surgical intervention is needed in many patients. In certain patients who cannot undergo aggressive surgical intervention, Gamma Knife thalamotomy (GKT) is a safe and effective alternative. METHODS: From June 2012 to August 2013, 7 patients with an intractable tremor underwent GKT. Four of these 7 patients had medical comorbidities, and 3 patients refused to undergo traditional surgery. Each patient was evaluated with the modified Fahn-Tolosa-Marin tremor rating scale (TRS) along with analysis of handwriting samples. All of the patients underwent GKT with a maximal dose of 130 Gy to the left ventralis intermedius (VIM) nucleus of the thalamus. Follow-up brain MRI was performed after 3 to 8 months of GKT, and evaluation with the TRS was also performed. RESULTS: Six patients showed objective improvement in the TRS score. Excluding one patient who demonstrated tremor progression, there was 28.9% improvement in the TRS score. However, five patients showed subjective improvement in their symptoms. On comparing the TRS scores between follow-up periods of more and less than 4 months, the follow-up TRS score at more than 4 months of GKT was significantly improved compared to that at less than 4 months of GKT. Follow-up MRI showed radiosurgical changes in 5 patients. CONCLUSION: GKT with a maximal dose of 130 Gy to the VIM is a safe procedure that can replace other surgical procedures.
Brain ; Comorbidity ; Follow-Up Studies ; Handwriting ; Humans ; Magnetic Resonance Imaging ; Movement Disorders ; Thalamus ; Tremor*

PURPOSE: The purpose of this study is to evaluate the characteristics of hallux valgus with severe hallux valgus angle (HVA) and moderate intermetatarsal angle (IMA) after proximal chevron osteotomy. MATERIALS AND METHODS: Between January 2008 and December 2010, 41 patients (48 feet) were treated with proximal chevron osteotomy and distal soft tissue procedure for symptomatic severe hallux valgus deformity (HVA > or =40degrees). Patients were divided into two groups, group M (IMA <18degrees) and group S (IMA > or =18degrees). Mean age of patients was 55.7 years (34~70 years) in group M and 60.0 years (44~78 years) in group S. Mean duration of follow-up was 20.4 months (12~41 months) in group M and 18.5 months (12~35 months) in group S. Radiographic parameters, including HVA, IMA, sesamoid position, metatarsus adductus angle (MAA), and distal metatarsal articular angle (DMAA), were compared between groups. Clinical results were assessed using American Orthopaedic Foot and Ankle Society (AOFAS) score and visual analogue scale (VAS). Recurrence rate at the last follow-up was compared between group M and group S. RESULTS: Preoperative HVA and grade of sesamoid position did not differ between the groups. However, immediate postoperative HVA and grade of sesamoid position were significantly larger in group M. Preoperative MAA and DMAA were significantly larger in group M. No significant difference in AOFAS score and VAS was observed between the groups at the last follow-up. Ten of the 27 feet (37.0%) in group M and two of the 21 feet (9.5%) in group S showed hallux valgus recurrence at the last follow-up. Group M showed a significantly higher recurrence rate than group S. CONCLUSION: Recurrence rate for severe hallux valgus with moderate IMA is higher than that of severe hallux valgus with severe IMA.
Ankle ; Congenital Abnormalities* ; Follow-Up Studies ; Foot ; Hallux Valgus* ; Humans ; Metatarsal Bones ; Metatarsus ; Osteotomy ; Recurrence

STUDY DESIGN: A retrospective study. OBJECTIVES: This study was performed by probing vertebral artery injuries and their radiologic characteristics in cervical spine fractures, and analyzing MRI findings of vascular injuries. SUMMARY OF LITERATURE REVIEW: Vertebral artery injuries are found relatively often in cervical spine fractures. MATERIALS AND METHODS: We evaluated 57 cases of cervical spine fractures that occurred beginning in June 2011 and ending in February 2003. The characteristics of each fracture were evaluated using conventional radiographs, CT, and MRI. The presence of a vertebral artery injury was based on the absence of signal void in multilevel transverse foramens. RESULTS: Twelve out of the 57 cases (21.1%) were found to have unilateral vertebral artery injuries. Clinically, impairment in cerebral circulation was not found. We found no statistical correlation between the signal change in the spinal cord and in the vertebral artery injury (P=0.424). We noted fractures of transverse processes in 7 cases, 6 of which showed vertebral artery injuries. Thus, the transverse process facture was associated with t vertebral artery injury (P=0.000). There seemed to be no relationship between the vertebral artery injury and each of following: fracture level (P=0.416), fracture type (P=0.723) and severity of soft tissue injury (P=0.195). CONCLUSIONS: Unilateral vertebral artery injuries were frequently found in the cervical spine fractures. And of all radiographic factors associated with vertebral artery injury, only the presence of transverse process fracture was statistically significant. Absence of signal void at multi-section MR images is considered to be a useful guide to commence additional vascular evaluation.
Retrospective Studies ; Soft Tissue Injuries ; Spinal Cord ; Spine ; Vascular System Injuries ; Vertebral Artery

PURPOSE: The purpose of this study was to compare the findings on high-resolution CT (HRCT) of the chest with those on video-assisted thoracoscopy for the detection of bullae in patients who had undergone an operation for spontaneous pneumothorax, and we also wished to evaluate the relationship between the characteristics of bullae on HRCT and development of spontaneous pneumothorax. MATERIALS AND METHODS: Fifty patients with spontaneous pneumothorax who had undergone both HRCT of the chest and video-assisted thoracoscopic surgery were included in the study. Spontaneous pneumothoraces were classified as either primary or secondary pneumothorax, and as initial or recurrent pneumothorax. The HRCT scans were obtained with 1 mm slice thickness and a 5 mm scan interval. Two radiologists retrospectively compared the HRCT findings of the chest with those findings on video-assisted thoracoscopy for the detection of bullae, and they evaluated the value of HRCT for diagnosing bullae. In addition, we assessed the size and number of bullae in these patients, and we also evaluated the relationship between those findings of bullae and the development of spontaneous pneumothorax. RESULTS: Bullae were detected in 40 patients by using video-assisted thoracoscopy, and HRCT showed bullae in 38 of these patients. Bullae were not identified with video-assisted thoracoscopy in the remaining ten patients, and among these ten patients, bullae were not demonstrated by HRCT in eight of them. Therefore, the sensitivity and specificity of HRCT for the detection of bullae were 95% (38/40) and 80% (8/10), respectively. The average size of the bullae of the affected hemithorax and the contralateral un-affected hemithorax was 1.97 cm+/-2.30 and 1.24 cm+/-1.46, respectively. Pneumothorax was more frequently observed in the hemithorax with larger bullae (p<0.05). The average numerical grade of the bullae (3.38+/-1.60) was higher in the affected hemithorax than in the contralateral un-affected hemithorax (2.96+/-1.86), but there was no statistically significant difference between both groups of hemithoraces (p>0.05). The average size of bullae in patients with secondary pneumothorax and those bullae of patients with primary pneumothorax was 4.44 cm+/-4.06 and 1.42 cm+/-1.26, respectively. The bullae were significantly larger in the patients with secondary pneumothorax than in those patients with primary pneumothorax (p<0.05). Although the average numerical grade of bullae was higher in the patients with secondary pneumothorax (4.00+/-1.58) than in those patients with primary pneumothorax (3.24+/-1.61), the difference between two groups was not statistically significant (p>0.05). CONCLUSION:HRCT of the chest would be a useful modality for detecting the bullae of those patients with spontaneous pneumothorax. The development of spontaneous pneumothorax is associated with the size of bullae rather than the number of bullae.
Humans ; Pneumothorax* ; Retrospective Studies ; Sensitivity and Specificity ; Thoracic Surgery, Video-Assisted ; Thoracoscopy* ; Thorax

OBJECTICE: To compare the use of conventional, real-time compound, and pulse-inversion harmonic imaging in the evaluation of breast nodules. MATERIALS AND METHODS: Fifty-two breast nodules were included in this study, conducted between May and December 2000, in which conventional, real-time compound, and pulse-inversion harmonic images were obtained in the same plane. Three radiologists, each blinded to the interpretations of the other two, evaluated the findings, characterizing the lesions and ranking the three techniques from grade 1, the worst, to grade 3, the best. Lesion conspicuity was assessed, and lesions were also characterized in terms of their margin, clarity of internal echotexture, and clarity of posterior echo pattern. The three techniques were compared using Friedman's test, and interobserver agreement in image interpretation was assessed by means of the intraclass correlation coefficient. RESULTS: With regard to lesion conspicuity, margin, and internal echotexture of the nodules, real-time compound imaging was the best technique (p < 0.05); in terms of posterior echo pattern, the best was pulse-inversion harmonic imaging (p < 0.05). Real-time compound and pulse inversion harmonic imaging were better than conventional sonography in all evaluative aspects. Interobserver agreement was greater than moderate. CONCLUSION: Real-time compound and pulse-inversion harmonic imaging procedures are superior to conventional sonography in terms of both lesion conspicuity and the further characterization of breast nodules. Real-time compound imaging is the best technique for evaluation of the margin and internal echotexture of nodules, while pulse-inversion harmonic imaging is very effective for the evaluation of the posterior echo patterns.
Breast Neoplasms/*ultrasonography ; Comparative Study ; Female ; Fibrocystic Disease of Breast/*ultrasonography ; Human ; Middle Age ; Ultrasonography, Mammary/*methods

The Cronkhite-Canada Syndrome (CCS) is a monfamilial disorder of adults characterized by diffuse gastro-intestinal polyposis, ectodermal changes consisting of alopecia, dystrophy of nails and cutaneous hyper-pigmentation. The pathogenesis and the causes of CCS remain unknwon but the symptoms such as diarrhea and malnutrition are generally progressive, and the prognosis is knwon to be poor. Though the definitive treatment is not well known, it has been reported that the conservative management is the most important treatment, and that the clinical sourse can be reversible. One case was experienced involving Cronkhite-Canada Syndromen in a patient who was managed by conservative treatment and an other who was treated by corticosteroid. These two cases are reported herein with a review of corresponding literature.
Adult ; Alopecia ; Canada* ; Diarrhea ; Ectoderm ; Humans ; Intestinal Polyposis ; Malnutrition ; Prognosis

Postganglionic cholinergic dysautonomia is a rare disease characterized by impaired secretion of tears and saliva, generalized absence of sweating, lack of cardiac response to carotid massage and atony of the gastrointestinal tract and urinary bladder. Autonomic function tests show the preservation of sympathetic adrenergic functions in contrast to the generalized involvement of postganglionic parasympathetic and sympathetic cholinergic nerves. Recently, we experienced a patient with gut dysmotility in selective postganglionic cholinergic dysautonomia. She is now being treated with bethanechol and milk of magnesia and has experienced minimal symptom improvement.
Bethanechol ; Gastrointestinal Tract ; Humans ; Magnesium Oxide ; Massage ; Milk ; Primary Dysautonomias* ; Rare Diseases ; Saliva ; Sweat ; Sweating ; Tears ; Urinary Bladder

Functioning adrenal cortical tumors are originated form a distinct zone(zonna glomerulosa, zonna fasciculata or zonna reticularis) or the transitonal zone of adrenal gland. Each zone of the gland is regulated by their specific hormons or cytokines, and their signal transduction systems are different. The oncogenes of many endocrine tumors were mutated proteins involved in signal transduction, however gip is the only reported oncogene in adrenal cortical tumors. Therefore we decided to reevaluate whether gsp might be detected as an oncogene in several different functioning adrenal tumors, and we also tested whether CREB protein is a tentative oncogene or not. In our study, gsp was not detected in 13 patients, however gip was not also detected unexpectedly. There were no mutations in the phosporylation site of CREB("P" box) in adrenal cushing syndrome. We concluded that gip was not a oncogene detected frequently in adrenal cortical tumor, and CREB protein was not considered as a tentative oncogen, because there might be no amplification of the signals due to its extreme distal component of PKA or PKC system.
Adrenal Glands ; Cushing Syndrome ; Cyclic AMP Response Element-Binding Protein ; Cytokines ; Humans ; Oncogenes ; Signal Transduction