Reversible Symptom Aggravation by Intake of Taurine-Rich Foods in Patients with Venous Congestive Myelopathy: Controlled Case Series Study / 신경중재치료의학

Purpose@#Reversible aggravation of myelopathy symptoms was observed after the intake of taurine-rich foods in patients with venous congestive myelopathy (VCM) caused by a spinal arteriovenous shunt (SAVS), and the taurine-challenge test was applied to demonstrate an association between taurine and VCM. @*Materials and Methods@#The current study reviewed any aggravation history of myelopathy symptoms, including walking difficulty, after consuming taurine-rich foods among 133 consecutive patients with a SAVS from a prospective institutional database from June 2013 to February 2021. The type of taurine-rich foods, demographic data, arteriovenous shunt level, and follow-up periods were obtained. For the controlled taurine challenge test, Bacchus® (Dong-A Pharmaceutical, Seoul, Korea), a taurine-rich drink, was given to patients who fulfilled test criteria of recovered VCM (pain-sensory-motor-sphincter scale ≥2, improvement of spinal cord signal intensity on magnetic resonance imaging, and follow-up >6 months after SAVS treatment) to confirm the disappearance of such aggravation. @*Results@#Ten patients had an aggravation history related to food. Webfoot octopus, small octopus, squid, crab, scallop, and taurine-rich energy drink (Bacchus®) were related to such aggravation in patients with VCM. Aggravation appeared about 30 minutes after food intake followed by expressions such as ‘I could not walk and collapsed to the ground’ and usually lasted for about 3 hours, followed by a slow recovery after taking rest. Four patients who met the test criteria underwent the taurine challenge with Bacchus® and revealed no further symptom aggravation, suggesting that taurine did not affect patients after recovery from VCM. @*Conclusion@#The association between taurine-rich food and reversible symptom aggravation can appear in patients with VCM and disappear after VCM treatment. Aggravation of venous hypertension in the spinal cord is suggested as a mechanism but further elucidation is needed.

Clinical Features and Brain MRI Findings in Korean Patients with AGel Amyloidosis

Purpose@#AGel amyloidosis is systemic amyloidosis caused by pathogenic variants in the GSN gene. In this study, we sought to characterize the clinical and brain magnetic resonance image (MRI) features of Korean patients with AGel amyloidosis. @*Materials and Methods@#We examined 13 patients with AGel amyloidosis from three unrelated families. Brain MRIs were performed in eight patients and eight age- and sex-matched healthy controls. Therein, we analyzed gray and white matter content using voxel-based morphometry (VBM), tract-based spatial statistics (TBSS), and FreeSurfer. @*Results@#The median age at examination was 73 (interquartile range: 64–76) years. The median age at onset of cutis laxa was 20 (interquartile range: 15–30) years. All patients over that age of 60 years had dysarthria, cutis laxa, dysphagia, and facial palsy. Two patients in their 30s had only mild cutis laxa. The median age at dysarthria onset was 66 (interquartile range: 63.5–70) years. Ophthalmoparesis was observed in three patients. No patient presented with muscle weakness of the limbs. Axial fluid-attenuated inversion recovery images of the brain showed no significant differences between the patient and control groups. Also, analysis of VBM, TBSS, and FreeSurfer revealed no significant differences in cortical thickness between patients and healthy controls at the corrected significance level. @*Conclusion@#Our study outlines the clinical manifestations of prominent bulbar palsy and early-onset cutis laxa in 13 Korean patients with AGel amyloidosis and confirms that AGel amyloidosis mainly affects the peripheral nervous system rather than the central nervous system.

Clinical Features and Brain MRI Findings in Korean Patients with AGel Amyloidosis

Purpose@#AGel amyloidosis is systemic amyloidosis caused by pathogenic variants in the GSN gene. In this study, we sought to characterize the clinical and brain magnetic resonance image (MRI) features of Korean patients with AGel amyloidosis. @*Materials and Methods@#We examined 13 patients with AGel amyloidosis from three unrelated families. Brain MRIs were performed in eight patients and eight age- and sex-matched healthy controls. Therein, we analyzed gray and white matter content using voxel-based morphometry (VBM), tract-based spatial statistics (TBSS), and FreeSurfer. @*Results@#The median age at examination was 73 (interquartile range: 64–76) years. The median age at onset of cutis laxa was 20 (interquartile range: 15–30) years. All patients over that age of 60 years had dysarthria, cutis laxa, dysphagia, and facial palsy. Two patients in their 30s had only mild cutis laxa. The median age at dysarthria onset was 66 (interquartile range: 63.5–70) years. Ophthalmoparesis was observed in three patients. No patient presented with muscle weakness of the limbs. Axial fluid-attenuated inversion recovery images of the brain showed no significant differences between the patient and control groups. Also, analysis of VBM, TBSS, and FreeSurfer revealed no significant differences in cortical thickness between patients and healthy controls at the corrected significance level. @*Conclusion@#Our study outlines the clinical manifestations of prominent bulbar palsy and early-onset cutis laxa in 13 Korean patients with AGel amyloidosis and confirms that AGel amyloidosis mainly affects the peripheral nervous system rather than the central nervous system.

A Successful Stent-Assisted Coil Embolization in a Patient with Oculomotor Palsy Due to Partially Thrombosed-Aneurysm in Cavernous Internal Carotid Artery

No abstract available.

Abnormal Oculomotor Functions in Amyotrophic Lateral Sclerosis

BACKGROUND AND PURPOSE: Although traditionally regarded as spared, a range of oculomotor dysfunction has been recognized in amyotrophic lateral sclerosis (ALS) patients. ALS is nowadays considered as a neurodegenerative disorder of a third compartment comprising widespread areas of extra-motor brain including cerebellum. Our objective was to perform an observational study to examine for ocular motor dysfunction in patients with ALS and for any differences between bulbar-onset and spinal-onset patients. METHODS: Thirty two ALS patients (bulbar onset: 10, spinal onset: 22) underwent the standardized systemic evaluations using video-oculography. RESULTS: Oculomotor dysfunctions such as square wave jerks, saccadic dysmetria, abnormal cogwheeling smooth pursuits and head shaking and positional nystagmus of central origin have been observed in the ALS patients at a relatively early stage. Abnormal smooth pursuits and saccadic dysmetria were increased in the bulbar-onset compared to the spinal-onset (p < 0.05). CONCLUSIONS: These oculomotor abnormalities may be a marker of neuro-degeneration beyond motor neurons in ALS, especially in bulbar-onset disease. Future longitudinal studies of eye movement abnormalities have provided insights into the distribution and nature of the disease process.

Neuromyelitis Optica Spectrum Disorder in a Patient with Ankylosing Spondylitis

No abstract available.

Small Fiber Neuropathy and Postural Orthostatic Tachycardia Syndrome after Human Papillomavirus Vaccination

We describe a 44-year-old woman with paresthesia, fatigue, and palpitation, 10 days after human papillomavirus (HPV) vaccination. The quantitative sensory test showed abnormal detection threshold in her foot. Tilt test result indicated postural orthostatic tachycardia syndrome. Symptoms were improved after immunomodulating therapy, pain control drug, and oral beta blocker medication. This is first case report for small fiber neuropathy and autonomic dysfunction after HPV vaccination in Korea.

Sensory Polyneuropathy and Cobalt Intoxication after Metal-on-Metal Total Hip Arthroplasty

We describe a patient with sensory polyneuropathy and cobalt intoxication. The cause of cobalt intoxication was metallosis of a metal-on-metal hip joint composed of cobalt-chrome alloy. A nerve conduction study revealed axonal sensory polyneuropathy, which improved slightly after chelation therapy and revision surgery. This case implies that a history of arthroplasty should not be neglected in the context of sensory polyneuropathy.

Primary Position Upbeat Nystagmus during an Acute Attack of Multiple Sclerosis

BACKGROUND AND PURPOSE: Ocular manifestation is one of the frequent signs of an acute attack in multiple sclerosis (MS), although primary position upbeat nystagmus (PPUN) is rare. The purpose of this study is to determine the incidence of PPUN in MS and to determine the lesions that are responsible for this sign. METHODS: The medical records of 120 MS patients with acute brain lesions were reviewed over a consecutive period of 9 years; of these, 6 patients were found to have PPUN. Other ocular motor abnormalities were analyzed in combination with upbeat nystagmus, video-oculographic findings, and lesions detected on brain MRI. RESULTS: Lesions in the pontine tegmentum involving the medial longitudinal fasciculus (MLF) and ventral tegmental tract (VTT) were the most common, being observed in three of the six patients with PPUN. One patient exhibited caudal medullary lesions bilaterally affecting the paramedian portion of the posterior tegmentum, and two patients exhibited multiple lesions involving the pons with the cerebral peduncle or medulla. In five patients, other ocular motor dysfunctions, such as gaze-evoked nystagmus (n=3) and internuclear ophthalmoplegia (n=1), were found in combination with upbeat nystagmus. CONCLUSIONS: PPUN is an infrequent, ocular manifestation noted during an acute attack of MS, and was observed in 5% of the present cases. Brainstem lesions in these cases primarily involved the pontine tegmentum and the caudal medulla. These findings support the theory that upbeat nystagmus is attributable to damage to the upward vestibulo-ocular reflex pathway related to the vestibular nucleus, VTT, and interconnecting pathways.

Recurrent Anti-GQ1b Antibody Syndrome

Anti-GQ1 antibody is found in patients with Miller-Fisher syndrome (MFS), atypical MFS, and Bickerstaff's brainstem encephalitis (BBE). These conditions are various manifestations of post-infectious autoimmune disorders, and anti-GQ1b antibodies play a core pathogenic role. So they are referred as the 'anti-GQ1b antibody syndrome'. We report two cases of recurrent anti-GQ1b antibody syndrome.

Advanced POEMS syndrome treated with high-dose melphalan followed by autologous blood stem cell transplantation: a single-center experience

BACKGROUND: POEMS syndrome is a rare paraneoplastic syndrome associated with plasma cell dyscrasia. High-dose chemotherapy followed by autologous stem cell transplantation has shown encouraging efficacy in the treatment of patients with POEMS syndrome. However, there are minimal reports on clinical outcomes after autologous stem cell transplantation for patients with advanced disease and very poor performance status. METHODS: We retrospectively evaluated 9 advanced POEMS syndrome patients, who had an Eastern Cooperative Oncology Group performance status score of 3 or 4, and were treated with high-dose melphalan therapy followed by autologous stem cell transplantation from 2004 to 2011. RESULTS: Eight patients achieved initial hematologic response, 4 of whom had complete responses. At a median follow-up of 44 months (range, 8-94 months), 7 patients were alive, with 3-year overall survival rate of 77.8%. There were no hematologic relapses in the survivors. One patient died of disease progression; the other died of pneumonia despite a hematologic response 3 months after autologous stem cell transplantation. All survivors achieved improvement in general performance status and in clinical response. CONCLUSION: High-dose melphalan followed by autologous stem cell transplantation can be considered a valid treatment option even for patients with advanced POEMS syndrome.

Amyotrophic Lateral Sclerosis Associated With CADASIL

No abstract available.

Amyotrophic Lateral Sclerosis Associated With CADASIL

No abstract available.

A Case of Spontaneous Remission of Acute Pulmonary Embolism / 결핵및호흡기질환

Acute pulmonary embolism (PE) ranges from asymptomatic to often fatal, incidentally discovered emboli to massive embolism causing immediate death. Acute PE may occur rapidly and unpredictably and may be difficult to diagnose. Mortality and complications can be reduced by prompt diagnosis and therapy. Untreated PE is associated with a mortality rate of approximately 30 percents. Most patients with PE have endogenous fibrinolysis, although it is not effective enough to prevent PE. A case of spontaneous remission of untreated acute PE has not previously been reported. Here we present a case of spontaneously resolved acute PE without any treatment.

A Patient with Coexisting Myasthenia Gravis and Lambert-Eaton Myasthenic Syndrome

BACKGROUND: The coexistence of myasthenia gravis (MG) and Lambert-Eaton myasthenic syndrome (LEMS) is very rare and remains controversial. CASE REPORT: A 48-year-old woman initially presented with noticeable right ptosis and intermittent diplopia. She then developed fluctuating proximal limb weakness and difficulty in swallowing. The serum titer of anti-acetylcholine-receptor antibody was elevated and the edrophonium (Tensilon) test was positive. However, repetitive nerve stimulation revealed abnormalities typical of LEMS. The patient exhibited a good response to treatment with anticholinesterase inhibitors and steroids, and long-term evaluation disclosed that she presented with the clinical, electrophysiological, and immunological characteristics of both diseases. CONCLUSIONS: The reported clinical and electrophysiological features suggest that this patient was a very rare case of combined MG and LEMS.

Association of the X-linked Androgen Receptor Leu57Gln Polymorphism with Monomelic Amyotrophy

Monomelic amyotrophy (MA), also known as Hirayama disease, occurs mainly in young men and manifests as weakness and wasting of the muscles of the distal upper limbs. Here, we sought to identify a genetic basis for MA. Given the predominance of MA in males, we focused on candidate neurological disease genes located on the X chromosome, selecting two X-linked candidate genes, androgen receptor (AR) and ubiquitin-like modifier activating enzyme 1 (UBA1). Screening for genetic variants using patients' genomic DNA revealed three known genetic variants in the coding region of the AR gene: one nonsynonymous single-nucleotide polymorphism (SNP; rs78686797) encoding Leu57Gln, and two variants of polymorphic trinucleotide repeat segments that encode polyglutamine (CAG repeat; rs5902610) and polyglycine (GGC repeat; rs3138869) tracts. Notably, the Leu57Gln polymorphism was found in two patients with MA from 24 MA patients, whereas no variants were found in 142 healthy male controls. However, the numbers of CAG and GGC repeats in the AR gene were within the normal range. These data suggest that the Leu57Gln polymorphism encoded by the X-linked AR gene may contribute to the development of MA.

A Case of Lower Motor Neuron Syndrome Which May be Paraneoplastic

We present a 55-year-old man who has a six-month history of progressive weakness of all limbs. Findings from neurologic examination were notable for a diffuse muscular weakness and atrophy in all limbs. Laboratory findings for collagen vascular disease, monoclonal gammopathy, and infections were normal. Electrophysiologic studies supported lower motor neuron (LMN) syndrome. CT scan and needle biopsy disclosed small cell lung cancer. This case suggests that in some elderly patients with LMN syndrome a careful search for an underlying cancer is warranted.

A Case of Hodgkin's Lymphoma Associated with Sensory Neuropathy

Peripheral neuropathies occur in lymphoma patients. Causes of neuropathy include chemotherapy, opportunistic infections, and the lymphoma itself. We report a patient with lymphoma whose chief complaint was a sensory loss in the hands and feet. Electrophysiologic studies and sural nerve biopsy showed sensory polyneuropathies. We hypothesize that this neuropathy is associated with lymphoma-related ganglionopathy, and among the possible causes, we suspect that a systemic cause such as a paraneoplastic syndrome is the most likely pathogenic etiology. However, further follow-up will be necessary to see whether sensory symptoms change with lymphoma treatment.

Predicting Factors of Long-term Surgical Outcome for Mesial Temporal Lobe Epilepsy with Unilateral Hippocampal Atrophy on MRI / 대한간질학회지

PURPOSE: To identify the clinical and electroencephalographic factors which are independently predictive of a postoperative seizure-free outcome for 4 years. We compared the outcomes of the first 2 years with the subsequent 2 years one after anterior temporal lobectomy (ATL) for mesial temporal lobe epilepsy (MTLE) with unilateral hippocampal atrophy (HA) on MRI. METHODS: We studied 51 consecutive operated patients who had above 4 years of follow-up and had MTLE with definite unilateral HA on MRI. The surgical outcome was classified as either seizure-free or not seizure-free in the first postoperative 2 years and the subsequent 2 years. Several clinical variables were included. The scalp EEG parameters included the lateralization of interictal epileptiform discharges, ictal onset location, ictal onset frequency, ictal EEG lateralization, and ictal scalp EEG propagation (bitemporal asynchrony or switch of lateralization). Variable factors were subjected to univariate analysis. RESULTS: Overall, 36 patients (71%) became seizure-free during the postoperative 4 years. On univariate analysis, only one factor was significantly associated with poor outcome (p<0.05): ictal scalp EEG propagation pattern such as bitemporal asynchrony or switch of lateralization. The seizure-free outcome was seen in 88.9% of patients without bitemporal asynchroncy, or switch of lateralization while only 54.5% of patients with those patterns (p=0.007) during the postoperative third and fourth year. However, those propagation patterns did not show the prognostic value during the first 2 years (p=0.449). Other variable factors were found not to be predictive of prognosis on early or late recurrence. CONCLUSIONS: Bitemporal asynchrony or a switch of lateralization in the ictal scalp EEG might be a highly predictive factor for an undesirable surgical outcome, late recurrence of seizure during a follow-up period after ATL, and probably an index of bitemporal epileptogenicity in MTLE.

Effect of Combination of Ictal Scalp EEG and Seizure Semiology on Seizure Lateralization in Temporal Lobe Epilepsy / 대한간질학회지

PURPOSE: To compare the reliability of lateralization between seizure semiology and ictal scalp EEG findings in mesial temporal lobe epilepsy (MTLE) patients, and to examine the advantage of the combined use of these two methods. METHODS: We independently reviewed the ictal scalp EEG recordings and clinical seizure semiology of 243 seizures recorded in 58 consecutive MTLE patients. All patients were seizure-free for at least 1 year postoperatively. Each seizure was lateralized on the basis of ictal semiology and ictal scalp EEG patterns according to strictly defined criteria, respectively. Individual patients were also lateralized based on these data. RESULTS: Seizure semiology analysis lateralized 64.6 % of seizures and 82.8 % of patients. Ictal scalp EEG analysis lateralized 74.5% of seizures and 74.1% of patients. Combination of the information from the two methods allowed for lateralization in a greater portion of both seizures (79.8%) and patients (89.7%). CONCLUSION: This study suggests that combination of ictal scalp EEG findings and seizure semiology improves the lateralization of individual seizures and patients. Therefore, it is worth lateralizing with standardized combined ictal EEG and semiology analysis for noninvasive presurgical evaluation in TLE patients.