Clinical and Imaging Features of Multiple System Atrophy: Challenges for an Early and Clinically Definitive Diagnosis

Multiple system atrophy (MSA) is an adult-onset, progressive neurodegenerative disorder. Patients with MSA show various phenotypes during the course of their illness, including parkinsonism, cerebellar ataxia, autonomic failure, and pyramidal signs. Patients with MSA sometimes present with isolated autonomic failure or motor symptoms/signs. The median duration from onset to the concomitant appearance of motor and autonomic symptoms is approximately 2 years but can range up to 14 years. As the presence of both motor and autonomic symptoms is essential for the current diagnostic criteria, early diagnosis is difficult when patients present with isolated autonomic failure or motor symptoms/signs. In contrast, patients with MSA may show severe autonomic failure and die before the presentation of motor symptoms/signs, which are currently required for the diagnosis of MSA. Recent studies have also revealed that patients with MSA may show nonsupporting features of MSA such as dementia, hallucinations, and vertical gaze palsy. To establish early diagnostic criteria and clinically definitive categorization for the successful development of disease-modifying therapy or symptomatic interventions for MSA, research should focus on the isolated phase and atypical symptoms to develop specific clinical, imaging, and fluid biomarkers that satisfy the requirements for objectivity, for semi- or quantitative measurements, and for uncomplicated, worldwide availability. Several novel techniques, such as automated compartmentalization of the brain into multiple parcels for the quantification of gray and white matter volumes on an individual basis and the visualization of α-synuclein and other candidate serum and cerebrospinal fluid biomarkers, may be promising for the early and clinically definitive diagnosis of MSA.

Atypical clinical symptoms about early onset narcolepsy / 国际儿科学杂志

Early onset narcolepsy is a chronic nervous system disease with unknown origin,which has gained nationwide attention in recent years.Children with this disease often experience atypical clinical symptoms.The review summarizes existing studies on early onset narcolepsy with regard to its atypical clinical symptoms,pathogenesis,diagnosis,and treatment.

Cystic Abducens Schwannoma without Abducens Paresis : Possible Role of Cisternal Structures in Clinical Manifestation

The abducens nerve paresis generally can aid in the presumptive diagnosis of abducens schwannoma along with the typical radiological features of schwannomas. The authors present a case of a 76-year-old male patient with a abducens schwannoma without abducens nerve paresis. Peroperatively, abducens nerve located in the cerebellopontine cistern had normal in contour and diameter, despite the mass originated from this nerve. We hypothesize that anatomic location of abducens nerve may affect the vector of tumor growth to prevent destruction of its origin, the abducens nerve.

Clinical Features of Gastroesophageal Reflux Disease in Elderly Patients in Korea

BACKGROUND: Manifestations of gastroesophageal reflux disease(GERD) range from mild episodes of heartburn and acid regurgitation to chronic mucosal inflammation with esophagitis. It has been suggested that elderly patients may present symptoms in a slightly different manner from younger patients. The aim of the present study was to compare symptoms and clinical characteristics of elderly patients to that of younger patients in a population with endoscopially GERD. METHODS: Three hundred sixty two patients with diagnosed GERD who underwent esophagogastroduedenoscopy were enrolled. Patients were divided into two groups according to age( or =65 years, n=181). Esophageal and other symptoms and clinical parameters including the status of endoscopic findings, Helicobacter pylori infection and pathologic findings. RESULTS: Among esophageal symptoms, heartburn is less frequent in elderly group(21.5% vs. 31.5%, p=0.032). Dyspepsia is most common symptom in both group and more frequent in elderly group(42.5% vs. 32.0%, p=0.039). Other symptoms showed no differences between two groups. The prevalence of H. pylori infection, hiatal hernia and nonerosive GERD also showed no significant differences. CONCLUSION: Elderly patients with GERD presented a higher frequency of atypical symptoms. Intensive history taking for atypical symptoms was needed in elderly patients with suspected GERD.

A Case of Tsutusgamushi Disease with Atypical Symptom

A 59 year old woman visited the hospital complaining of sore throat, chill, myalgia and whole body skin rash. There was abnormal finding of fever, sinus tachycardia, increased lactic dehydrogenase and elongation prothrombin time. We started treatment with acetaminophen and fluid because she had not specific history of visiting to the mountain or field, etc. After treatment increased aspartate aminotransferase/alanine aminotransferase and thrombocytopenia appeared without symptomatic improvement so that we investigated tsutsugamushi antibodies and diagnosed her condition as Tsutsugamushi disease with polyuria. But the clinical manifestation in our case showed atypical symptom which had polyuria. There is no report on that in Korea and over the world therefore the author et al. report of case of Tsutsugamushi disease with polyuria, atypical symptom.