Dermatomyositis Presenting with Isolated Dysphagia: A Case Report / 대한신경근육질환학회지

We report a case of a 75-year-old woman who was diagnosed with dermatomyositis presenting with isolated dysphagia. There were no obvious cranial nerve deficits with normal motor grade in all the limbs in neurological examinations, but a suspicious rash was observed in the anterior chest. The serum creatine kinase was 306 IU/L, and active myopathic changes in bilateral limb muscles were observed in the electromyography test. Muscle biopsy from vastus lateralis showed perivascular infiltration of mononuclear inflammatory cells, which was compatible with dermatomyositis. She had responded to oral prednisolone and azathioprine.

Confirming Genetic Abnormalities of Hypokalemic Periodic Paralysis Using Next-Generation Sequencing: A Case Report and Literature Review

Hypokalemic periodic paralysis (hypoPP) is a disorder characterized by episodic, short-lived, and hypo-reflexive skeletal muscle weakness. HypoPP is a rare disease caused by genetic mutations related to expression of sodium or calcium ion channels. Most mutations are associated with autosomal dominant inheritance, but some are found in patients with no relevant family history. A 28-year-old man who visited the emergency room for paralytic attack was assessed in this study.He exhibited motor weakness in four limbs. There was no previous medical history or family history. The initial electrocardiogram showed a flat T wave and QT prolongation. His blood test was delayed, and sudden hypotension and bradycardia were observed. The blood test showed severe hypokalemia. After correcting hypokalemia, his muscle paralysis recovered without any neurological deficits. The patient’s thyroid function and long exercise test results were normal. However, because of the history of high carbohydrate diet and exercise, hypoPP was suspected. Hence, next-generation sequencing (NGS) was performed, and a mutation of Arg669His was noted in the SCN4A gene. Although hypoPP is a rare disease, it can be suspected in patients with hypokalemic paralysis, and iden tification of this condition is important for preventing further attacks and improving patient outcomes. Diagnosing hypoPP through targeted NGS is a cost-effective and useful method.

Interpretation of Autonomic Function Test

The autonomic function test consists of the tests that evaluate the sudomotor, cardiovascular adrenergic, and parasympathetic functions. As its importance grows, more and more medical institutions want to evaluate it properly. However, there are many variables to consider and difficulties in interpreting ambiguous results, which may lead to incorrect screening. This paper is intended to help provide an appropriate interpretation of autonomic function tests in clinical settings.

Interpretation of Autonomic Function Test

The autonomic function test consists of the tests that evaluate the sudomotor, cardiovascular adrenergic, and parasympathetic functions. As its importance grows, more and more medical institutions want to evaluate it properly. However, there are many variables to consider and difficulties in interpreting ambiguous results, which may lead to incorrect screening. This paper is intended to help provide an appropriate interpretation of autonomic function tests in clinical settings.

Intraoperative Neurophysiologic Testing of the Perigastric Vagus Nerve Branches to Evaluate Viability and Signals along Nerve Pathways during Gastrectomy

PURPOSE: The perigastric vagus nerve may play an important role in preserving function after gastrectomy, and intraoperative neurophysiologic tests might represent a feasible method of evaluating the vagus nerve. The purpose of this study is to assess the feasibility of neurophysiologic evaluations of the function and viability of perigastric vagus nerve branches during gastrectomy. MATERIALS AND METHODS: Thirteen patients (1 open total gastrectomy, 1 laparoscopic total gastrectomy, and 11 laparoscopic distal gastrectomy) were prospectively enrolled. The hepatic and celiac branches of the vagus nerve were exposed, and grabbing type stimulation electrodes were applied as follows: 10–30 mA intensity, 4 trains, 1,000 µs/train, and 5× frequency. Visible myocontractile movement and electrical signals were monitored via needle probes before and after gastrectomy. Gastrointestinal symptoms were evaluated preoperatively and postoperatively at 3 weeks and 3 months, respectively. RESULTS: Responses were observed after stimulating the celiac branch in 10, 9, 10, and 6 patients in the antrum, pylorus, duodenum, and proximal jejunum, respectively. Ten patients responded to hepatic branch stimulation at the duodenum. After vagus-preserving distal gastrectomy, 2 patients lost responses to the celiac branch at the duodenum and jejunum (1 each), and 1 patient lost response to the hepatic branch at the duodenum. Significant procedure-related complications and meaningful postoperative diarrhea were not observed. CONCLUSIONS: Intraoperative neurophysiologic testing seems to be a feasible methodology for monitoring the perigastric vagus nerves. Innervation of the duodenum via the celiac branch and postoperative preservation of the function of the vagus nerves were confirmed in most patients. TRIAL REGISTRATION: Clinical Research Information Service Identifier: KCT0000823

Clinical Heterogeneity of Anti-GM2-Ganglioside-Antibody Syndrome

BACKGROUND AND PURPOSE: Antiganglioside antibodies are known to play a pathogenic role in Guillain-Barré syndrome (GBS). Either an immunoglobulin (Ig)G- or IgM-type anti-GM2 antibody is detected in rare cases in GBS patients. However, the specific pathogenic role of these antibodies in GBS has not been reported previously. This study aimed to define and characterize the clinical spectrum of GBS with anti-GM2 positivity. METHODS: We reviewed the database of the Dong-A University Neuroimmunology Team, which has collected sera of GBS and its variants from more than 40 general and university-based hospitals in Korea. Detailed information about the involved patients was often obtained and then corrected by the charge doctor applying additional questionnaires. RESULTS: Four patients with acute monophasic peripheral neuropathy or cranial neuropathy with isolated IgM-type anti-GM2-antibody positivity were recruited. In addition, IgG-type anti-GM2 antibody was solely detected in the sera of another four patients. The IgM-positive group comprised heterogeneous syndromes: two cases of acute motor axonal neuropathy, one of acute inflammatory demyelinating polyneuropathy, and one of isolated facial diplegia. In contrast, all of the cases enrolled in the IgG-positive group manifested with dizziness with or without oculomotor palsy due to cranial neuropathy syndrome. CONCLUSIONS: This study has identified that anti-GM2 antibody can be found in various subtypes of GBS and its variants in rare cases. Compared to the clinical heterogeneity of the IgM-positive group, the IgG-positive group can be characterized by cranial-dominant GBS variants presenting mainly with oculomotor and vestibular dysfunctions.

Recurrent Ischemic Strokes with Progression of Middle Cerebral Artery Stenosis during HIV Treatment

Human immunodeficiency virus (HIV) infection can result in ischemic stroke via several mechanisms, including opportunistic infection, vasculopathy, cardioembolism, and coagulopathy. HIV-vasculopathy is related to endothelial dysfunction, stenosis and aneurysm formation, infectious vasculitis, dissection and accelerated atherosclerosis during highly active antiretroviral therapy (HAART). We represent a case of HIV infection manifested as an acute ischemic stroke attack. After 4 months during HAART, our patient experienced a recurrent ischemic stroke with progression of middle cerebral artery stenosis.

Unilateral Hypoglossal Neuropathy in Multifocal Acquired Demyelinating Sensory and Motor Neuropathy: Differential Diagnosis of Motor Neuron Disease

Multifocal acquired demyelinating sensory and motor neuropathy (MADSAM) is a peripheral neuropathy characterized by multifocal weakness and associated sensory impairment. MADSAM is associated with multifocal persistent conduction block and other signs of demyelination. The incidence of cranial nerve involvement in MADSAM was recently reported to be approximately 15%. However, reports of hypoglossal neuropathy occurring in MADSAM are rare. Unilateral hypoglossal neuropathy in MADSAM is usually misdiagnosed as motor neuron disease. We report a patient with MADSAM presenting with tongue hemiatrophy.

Feasibility, Safety, and Follow-up Angiographic Results of Endovascular Treatment for Non-Selected Ruptured Intracranial Aneurysms Under Local Anesthesia with Conscious Sedation

BACKGROUND: At most centers, general anesthesia (GA) has been preferred for endovascular treatment (EVT) of ruptured intracranial aneurysms (RIAs). In this study, we analyzed procedural results, clinical outcomes, and follow-up angiographic findings for patients undergoing EVT for RIA under local anesthesia (LA) with conscious sedation (CS). METHODS: We retrospectively evaluated 308 consecutive patients who underwent EVT for RIAs at a single institution between June 2009 and February 2017. EVT under LA with CS was considered for all patients with aneurysmal subarachnoid hemorrhage, regardless of Hunt and Hess (HH) scale score. RESULTS: EVT was performed for 320 aneurysms in 308 patients with subarachnoid hemorrhages. The mean patient age was 55.5±12.6 years. Moderate (III) and poor (IV, V) HH grades were observed in 75 (24.4%) and 77 patients (25%), respectively. Complete occlusion immediately after EVT was achieved for 270 (84.4%) of 320 aneurysms. Thromboembolic complications and intraprocedural ruptures occurred in 25 (7.8%) and 14 cases (4.3%), respectively. The morbidity rate at discharge (as defined by a modified Rankin scale score of 3 or greater) was 27.3% (84/308), while the mortality rate was 11.7% (36/308). Follow-up angiographic results were available for 210 (68.1%) of 308 patients. Recanalization was observed in 64 (29.3%) of 218 aneurysms in 210 patients. CONCLUSION: Based on our experience, EVT for RIAs under LA with CS was feasible, regardless of the clinical grade of the subarachnoid hemorrhage. Complication rates and follow-up angiographic results were also comparable to those observed when GA was used to perform the procedure.

Two Bleeding Foci in a Mixed Vascular Malformation of the Brain

A cavernous angioma (CA) and a developmental venous anomaly may consist a mixed vascular malformation (MVM). Two bleeding foci were observed in a MVM of a man with epilepsy. The hemodynamic association between the two foci was not clear. An advance of neuroimaging may enhance the susceptibility of detection of MVMs. We should consider a MVM when a daughter bleeding focus occurs near the main bleeding focus associated with a CA.

Arterial Spin Labeling Perfusion MRI of Crossed Cerebellar Diaschisis in a Patient with Simple Partial Status Epilepticus

Crossed cerebellar diaschisis (CCD) is known to be due to a contralateral supratentorial lesion decreasing blood flow and the metabolism in a cerebellar hemisphere. Arterial spin labeling (ASL) is an imaging technique that utilizes arterial blood water as a tracer for quantifying the regional cerebral blood flow in magnetic resonance imaging (MRI). This case was a patient with simple partial status epilepticus (SPSE) and CCD confirmed by ASL-perfusion MRI. Controlling the SPSE resulted in improvement of CCD being observed in the follow-up ASL-perfusion MRI.

Toxocara canis-Associated Myelitis with Eosinophilic Pneumonia

The existence of Toxocara canis-specific antibodies has recently been reported in patients with atopic myelitis. Here, we report the case of a 35-year-old male patient admitted with a chief complaint of right lower limb hypoesthesia lasting for a month. The patient was diagnosed with eosinophilic pneumonia 3 months ago, and a spine MRI revealed the presence of myelitis in the cervicothoracic cord. After confirming the presence of hyper-IgE-emia and Toxocara canis antibodies, the patient was treated with steroids and albendazole treatment, which improved his symptoms. To our knowledge, this is the first case of Toxocara canis-associated myelitis with eosinophilic pneumonia.

Primary Aldosteronism Presenting as Hypokalemia and Rhabdomyolysis / 대한임상신경생리학회지

Primary aldosteronism is one of the most common cause of secondary hypertension and can be accompanied with hypokalemia. Rhabdomyolysis with hypokalemia in primary aldosteronism has been rarely reported. We describe a patient of primary aldosteronism who presented with limb-girdle type weakness.

Nemaline Myopathy Presenting as Adult-onset Distal Myopathy / 대한임상신경생리학회지

No abstract available.

Subacute Sensorimotor Polyneuropathy Associated with Autoimmune Hepatitis

No abstract available.

Blood Transcriptome Profiling in Myasthenia Gravis Patients to Assess Disease Activity: A Pilot RNA-seq Study

Myasthenia gravis (MG) is an antibody-mediated autoimmune disease characterized by exertional weakness. There is no biomarker to reflect disease activity and guide treatment decision. Here, we reported a pilot blood transcriptome study using RNA sequencing (RNA-seq) that identified differences of 5 samples in active status and 5 in remission from 8 different patients and 2 patients provided samples for both active and remission phase. We found a total of 28 differentially expressed genes (DEGs) possibly related to disease activity (23 up-regulated and 5 down-regulated). The DEGs were enriched for the cell motion and cell migration processes in which included were ICAM1, CCL3, S100P and GAB2. The apoptosis and cell death pathway was also significantly enriched, which includes NFKBIA, ZC3H12A, TNFAIP3, and PPP1R15A. Our result suggests that transcript abundance profiles of the genes involved in cell trafficking and apoptosis may be a molecular signature of the disease activity in MG patients.

Reference Range of Respiratory Muscle Strength and Its Clinical Application in Amyotrophic Lateral Sclerosis: A Single-Center Study

BACKGROUND AND PURPOSE: Evaluating respiratory function is important in neuromuscular diseases. This study explored the reference ranges of the maximal inspiratory pressure (MIP), maximal expiratory pressure (MEP), and sniff nasal inspiratory pressure (SNIP) in healthy adults, and applied them to amyotrophic lateral sclerosis (ALS) patients. METHODS: MIP, MEP, and SNIP were measured in 67 healthy volunteers aged from 21 to 82 years. Reference ranges were evaluated by multivariate regression analysis using the generalized additive modeling of location, scale, and shape method. Thirty-six ALS patients were reviewed retrospectively, and abnormal values of MIP, MEP, and SNIP were determined according to the reference ranges. RESULTS: MIP, MEP, and SNIP were abnormal in 57.1%, 51.4%, and 25.7% of the ALS patients, respectively. MIP and SNIP were significantly correlated with the degree of restrictive pattern and respiratory symptoms. The ALS Functional Rating Scale-Revised score was correlated with SNIP. CONCLUSIONS: This study has provided the reference range of respiratory muscle strength in healthy adults. This range is suitable for evaluating respiratory function in ALS patients.

Multiple Symmetric Lipomatosis Presenting with Bilateral Brachial Plexopathy

No abstract available.

A Case of Autonomic Dysfunction and Painful Sensory Neuropathy in Sjogren's Syndrome

Sjogren's syndrome is an autoimmune disease that is characterized by keratoconjunctivitis sicca and xerostomia. Small-fiber neuropathy is rare, although neurological manifestations occur in as many as 30% of patients with Sjogren's syndrome. We report herein a patient with Sjogren's syndrome who presented with autonomic neuropathy and painful sensory neuropathy. Primary Sjogren's syndrome should be considered in the differential diagnosis of small-fiber neuropathy.

Transient Global Amnesia With Unilateral Hippocampal Lesions and Contralateral Temporal Spikes

Recently, various diagnostic modalities revealed the characteristic abnormalities in transient global amnesia (TGA). We described two TGA patients with focal lesions in the right hippocampus. One patient showed bilateral temporal spike-and-wave on EEG and contralateral temporal hyperperfusion on SPECT. The other exhibited contralateral temporal sharp waves and ipsilateral temporal hypoperfusion. Our patients suggest that bilateral dysfunction of the medial temporal lobe is important for developing TGA. Multimodal diagnostic approach is required to clarify this phenomenon.