Clinical Assessment Scales in Autonomic Nervous System Disorders

The autonomic nervous system plays an important role in maintaining homeostasis mediated by the parasympathetic, sympathetic and enteric systems. Autonomic failure adversely affects body function and may increase morbidity and mortality. Therefore, the scoring systems, such as Ewing’s classification and Composite Autonomic Scoring Scale (CASS), were developed to detect and quantify autonomic deficits, primarily focusing on the cardiovascular reflex system. Autonomic disorders manifest with a myriad of symptoms resulting from the dysfunction of the gastrointestinal, genitourinary, secretomotor, pupillomotor systems as well as cardiovascular system. Several self-report questionnaires, such as Composite Autonomic Symptom Scale (COMPASS), Scale for Outcomes in Parkinson’s disease for Autonomic Symptoms (SCOPA-AUT), Survey of Autonomic Symptom (SAS), were also used to support to detect various signs and symptoms of autonomic dysfunction in clinical settings. In this review, we introduce clinically useful assessment scales in autonomic nervous system disorders.

Clinical Assessment Scales in Autonomic Nervous System Disorders

The autonomic nervous system plays an important role in maintaining homeostasis mediated by the parasympathetic, sympathetic and enteric systems. Autonomic failure adversely affects body function and may increase morbidity and mortality. Therefore, the scoring systems, such as Ewing’s classification and Composite Autonomic Scoring Scale (CASS), were developed to detect and quantify autonomic deficits, primarily focusing on the cardiovascular reflex system. Autonomic disorders manifest with a myriad of symptoms resulting from the dysfunction of the gastrointestinal, genitourinary, secretomotor, pupillomotor systems as well as cardiovascular system. Several self-report questionnaires, such as Composite Autonomic Symptom Scale (COMPASS), Scale for Outcomes in Parkinson’s disease for Autonomic Symptoms (SCOPA-AUT), Survey of Autonomic Symptom (SAS), were also used to support to detect various signs and symptoms of autonomic dysfunction in clinical settings. In this review, we introduce clinically useful assessment scales in autonomic nervous system disorders.

‘Sirim’ (Cold) Pain as a Common Symptom in Korean Patients with Clinically Suspected Small-Fiber Neuropathy

BACKGROUND AND PURPOSE: Diagnosing small-fiber neuropathy (SFN) is challenging because there is no gold-standard test and few diagnostic tests. This study investigated the clinical symptom profile and its associations with the results of quantitative sensory testing (QST) and the quantitative sudomotor axon reflex test (QSART) as well as the quality of life (QOL) in patients with clinically suspected SFN. METHODS: This study involved 63 patients with clinically suspected length-dependent SFN. Assessments were performed using QST, QSART, SFN Symptoms Inventory Questionnaire, Neuropathic Pain Symptom Inventory, ‘Sirim’ frequency and ‘Sirim’ (cold) pain severity, and 36-item Short-Form Health Survey. Multiple logistic and linear regression analyses were performed to predict risk factors for QST or QSART abnormalities and QOL, respectively. RESULTS: ‘Sirim’ and ‘Sirim’ pain was the most-common (84%) and the most-severe complaint (mean score of 6.3 on a numerical rating scale ranging from 0 to 10) in patients with clinically suspected SFN. The findings of QST [cold detection threshold (CDT)] and QSART were abnormal in 71% (n=45/57) and 62% (n=39/56) of the patients, respectively. An abnormal CDT was correlated with more-severe stabbing pain (odds ratio=2.23, 95% CI=1.02–4.87, p=0.045). Restless-leg symptoms (β=−7.077) and pressure-evoked pain (β=−5.034) were independent predictors of the physical aspects of QOL. CONCLUSIONS: ‘Sirim’ pain, similar to cold pain, should be considered a major neuropathic pain in SFN. Among pain characteristics, stabbing pain of a spontaneous paroxysmal nature may be more pronounced in the setting of dysfunctional Aδ fibers with functional autonomic C fibers.

Autonomic Dysfunction in Dizziness Clinic / 대한평형의학회지

Orthostatic dizziness is a common type of dizziness. In general, orthostatic dizziness is provoked by standing or tilting, and subsided by supine position. The patient with orthostatic intolerance complains multiple symptoms such as dizziness, palpitation, lightheadness, fatigue and rarely syncope. Common orthostatic intolerance is orthostatic hypotension (classic, initial, transient, and delayed orthostatic hypotension) and postural orthostatic tachycardia syndrome. Transcranial Doppler is a noninvasive technique that provides real-time measurement of cerebral blood flow velocity. It can be useful for understanding the relationship between orthostatic symptoms and cerebral autoregulatory function. The reciprocal causal relationship between vestibular and autonomic dysfunction should always be kept in mind.

Late-onset non-thymomatous myasthenia gravis: Comparison with early-onset and very late-onset myasthenia gravis

Objective: To identify the clinical characteristics of patients with myasthenia gravis (MG) according to age at onset. Methods: We retrospectively recruited 227 non-thymomatous MG patients with adult onset who had been followed up for more than one year. The patients were classified based on the age of symptom onset as “early-onset MG” (EOMG,18–50 years; N=135), “late-onset MG” (LOMG, 50–64 years; N=53), and “very late-onset MG” (VLOMG, 65 years; N=39). Clinical features and serological findings were compared between these groups. Results: LOMG patients showed more frequent ocular MG (55%) and less frequent thymic hyperplasia (9%) compared to EOMG patients (31% and 38%; p=0.006 and p<0.001, respectively), and no female preponderance compared to VLOMG patients (female, 49% vs.77%; p=0.014). However, there were no significant differences between VLOMG and EOMG patients, except for more frequent thymic hyperplasia (p<0.001) in EOMG patients. When analyzing female patients only, less frequent secondary generalization (10%) were additionally found in LOMG patients, compared to EOMG (47%, p= 0.008) and VLOMG (59%, p=0.004) patients. Anti-acetylcholine receptor antibody (HR, 5.48; 95% CI, 1.73–17.37; p=0.004) was independently associated with secondary generalization in female EOMG patients. Conclusion: Our study suggests that LOMG patients, especially female, were characterized by frequent ocular MG and less frequent secondary generalization, distinguished from EOMG and VLOMG patients. Further large epidemiologic studies in Korea are needed to determine the characteristics of MG patients according to the age at onset and gender.

Skull Base Dermoid Cyst in the Right Infratemporal Fossa Diagnosed Using the Dixon Technique: a Case Report and Review of Literature

Dermoid cysts are benign congenital tumors composed of keratinizing squamous epithelium and dermal derivatives. They account for less than 1% of all intracranial tumors and are rarely exhibited at the base of the skull. To the best of our knowledge, only one case report has presented computed tomography and conventional T1-weighted magnetic resonance (MR) findings that revealed an infratemporal dermoid cyst. In the present study, we report an unusual case of a dermoid cyst in the right infratemporal fossa, which was incidentally detected by MR imaging with the Dixon technique. This article also highlights the importance of meticulous radiological review and the usefulness of the Dixon technique in everyday clinical practice.

Skull Base Dermoid Cyst in the Right Infratemporal Fossa Diagnosed Using the Dixon Technique: a Case Report and Review of Literature

Dermoid cysts are benign congenital tumors composed of keratinizing squamous epithelium and dermal derivatives. They account for less than 1% of all intracranial tumors and are rarely exhibited at the base of the skull. To the best of our knowledge, only one case report has presented computed tomography and conventional T1-weighted magnetic resonance (MR) findings that revealed an infratemporal dermoid cyst. In the present study, we report an unusual case of a dermoid cyst in the right infratemporal fossa, which was incidentally detected by MR imaging with the Dixon technique. This article also highlights the importance of meticulous radiological review and the usefulness of the Dixon technique in everyday clinical practice.

Clinical Characteristics and Treatment Response of Peripheral Neuropathy in the Presence of Eosinophilic Granulomatosis with Polyangiitis (Churg-Strauss Syndrome): Experience at a Single Tertiary Center

BACKGROUND AND PURPOSE: Eosinophilic granulomatosis with polyangiitis (EGPA) is a rare systemic small-vessel vasculitis accompanied by asthma, eosinophilia, and eosinophilic inflammation of various tissues including the peripheral nerves. This study investigated the clinical course and long-term outcomes of peripheral neuropathy in patients with EGPA. METHODS: Seventy-one patients with physician-diagnosed EGPA were identified at Samsung Medical Center between January 1995 and April 2014. Sixty-one of these patients were followed-up for more than 1 year and received corticosteroid therapy with or without intravenous cyclophosphamide pulse therapy for 6 to 18 months. Medical records of the 61 patients including demographic data, clinical features, laboratory and pathological findings, treatments, and outcomes were reviewed. RESULTS: Peripheral neuropathy as a manifestation of EGPA was present in 46 (75%) of the 61 patients. The mean follow-up duration of the patients with neuropathy was 6.4 years (range 1.2–18.8 years). The scores on the neurological functional disability scale before and after the combination treatment with corticosteroid and cyclophosphamide were 2.43±0.86 and 0.54±0.95 (mean±SD; p<0.001), respectively. The peripheral neuropathy relapsed in one patient. CONCLUSIONS: The long-term clinical outcome of peripheral neuropathy in patients with EGPA receiving initial corticosteroid and cyclophosphamide combination therapy was favorable with a very low relapse rate.

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.

The First Korean Family With Hereditary Gelsolin Amyloidosis Caused by p.D214Y Mutation in the GSN Gene

Hereditary gelsolin amyloidosis (HGA) is an autosomal dominant hereditary disease characterized by corneal lattice dystrophy, peripheral neuropathy, and cutis laxa. So far, no Korean patients with HGA have been reported. A 58-yr-old man presented with involuntary facial twitching, progressive bilateral facial weakness, and tongue atrophy. His mother, maternal uncle, two sisters, and son suffered from the same symptoms. Electrophysiological studies revealed signs of chronic denervation in the cervical and lumbar regions, mild sympathetic autonomic dysfunction, and bilateral facial nerve dysfunction. Diagnostic whole-exome sequencing (WES) revealed a p.D214Y heterozygous mutation in the gelsolin gene in affected members. We present the first report of a Korean family with HGA diagnosed by WES. WES facilitated a clinical diagnosis of HGA in patients with undiagnosed neuropathies.

Comparison of Extended-Spectrum beta-Lactamase-Producing Escherichia coli and Klebsiella pneumoniae Bloodstream Infection Epidemiology / 병원감염관리

BACKGROUND: Extended-spectrum beta-lactamase (ESBL)-producing Escherichia coli and Klebsiella pneumoniae are main pathogens of bloodstream infection. We compared the epidemiology of ESBL-producing E. coli and K. pneumoniae. METHODS: From January 2003 through March 2007, we retrospectively investigated the clinical characteristics and comorbidities of patients with bloodstream infection by ESBL-producing E. coli and K. pneumoniae. RESULTS: During the study period, 79 patients (54 with E. coli and 25 with K. pneumoniae) with blood cultures positive for ESBL-producing E. coli or K. pneumoniae were studied. When comparing the source of bloodstream infections, urinary tract infections (UTIs) were more commonly caused by E. coli (24% vs. 0; P=0.007), and respiratory tract and soft tissue infection (36% vs. 15%; P=0.04, 12% vs. 0; P=0.03, respectively) were more commonly associated with K. pneumoniae. Among hospital-acquired bloodstream infection, third-generation cephalosporin was more commonly used in patients with E. coli than patients with K. pneumoniae (81% vs. 24%, P<0.001). Medical devices (central venous catheter and urinary catheter) were more commonly used in patients with K. pneumoniae. CONCLUSION: ESBL-producing E. coli bloodstream infection is more common in urinary tract infections. ESBL-producing K. pneumoniae is more common in respiratory tract infections and in skin and soft tissue infections. In hospital-acquired infections, ESBL-producing E. coli bloodstream infection is more common in biliary tract infection. ESBL-producing E. coli was more commonly associated with prior frequent antibiotics use and K. pneumoniae was more commonly associated with use of medical devices.

Primary Angiitis of the Central Nervous System Diagnosed by High-Resolution Vessel Wall MRI

Primary angiitis of the central nervous system (PACNS) is a poorly understood form of vascular inflammatory disease that is restricted to the brain and spinal cord. A 38-year-old woman presented with severe headache and transient aphasia. Her cerebrospinal fluid exhibited aseptic meningitis, and high-resolution vessel-wall MRI (HRVW-MRI) revealed narrowing of multiple intracranial vessels with concentric wall thickening and diffuse enhancement, suggestive of PACNS. High-dose steroid and azathioprine therapy resulted in a significant improvement in vessel wall thickening, and enhancement was observed on the follow-up HRVW-MRI.