Sang-Jun Na

Clinical characteristics and outcomes of juvenile and adult dermatomyositis.

Dermatomyositis (DM) is an idiopathic inflammatory myopathy with bimodal onset age distribution. The age of onset is between 5-18 yr in juvenile DM and 45-64 yr in adult DM. DM has a distinct clinical manifestation characterized by proximal muscle weakness, skin rash, extramuscular manifestations (joint contracture, dysphagia, cardiac disturbances, pulmonary symptoms, subcutaneous calcifications), and associated disorders (connective tissue disease, systemic autoimmune diseases, malignancy). The pathogenesis of juvenile and adult DM is presumably similar but there are important differences in some of the clinical manifestations, associated disorders, and outcomes. In this study, we investigated the clinical characteristics and outcomes of 16 patients with juvenile DM and 48 with adult DM. This study recognizes distinctive characteristics of juvenile DM such as higher frequency of neck muscle involvement, subcutaneous calcifications, and better outcomes.

Scrub typhus meningo-encephalitis with focal neurologic signs and associated brain MRI abnormal findings: Literature review

An acute febrile disease, scrub typhus is caused by rickettsial nfection transferred by a bite of the chigger larvae infected with rientia tsutsugamushi. It is also known as tsutsugamushi disase and is characterized by focal or disseminated vasculitis and erivasculitis, which may involve the lung, heart, liver, spleen nd central nervous system [1–3]. The main pathologic change s focal or disseminated vasculitis caused by the destruction of ndothelial cells and the perivascular infiltration of leukocytes 1]. Scrub typhus occurs in a wide area of eastern Asia and he western pacific region [3]. It occurs in persons who ngage in occupational or recreational behavior that brings hem into contact with mite-infested habitats such as bush and rass. Scrub typhus can present with neurologic signs resembling septic meningitis or encephalitis syndrome. According to a study y Pai et al., twelve (48%) of 25 patientswith scrub typhus hadmild SF pleocytosis [7]. However, focal neurologic signs and abnormal euroradiologic findings in scrub typhus are rarely reported. We eport a case of scrub typhusmeningo-encephalitis with focal neuologic signs and associated neuroradiologic abnormalities along ith a review of the literature.

A case of reversible postpartum cytotoxic edema in preeclampsia

We report on a 32-year-old woman who developed reversible cortical blindness and right-sided weakness after cesarean section at 36 weeks of gestation, due to preeclampsia. An initial brain MRI demonstrated high signal intensity lesions in the bilateral occipito-parietal and left frontal lobes on T2-weighted and diffusion-weighted imaging. All of the lesions showed low signal intensity on apparent diffusion coefficient (ADC) map, which were compatible with cytotoxic edema, and MR angiography (MRA) showed diffuse vasospasm of the intracranial vessels. A follow-up brain MRI showed that most of the lesions disappeared and the vasospasm also resolved. This case suggests that the cytotoxic edema in preeclampsia may evolve differently from the pattern in cerebral infarction and explains the relatively benign course of the neurological signs in preeclampsia.

Pattern of Voiding Dysfunction after Acute Brainstem Infarction

Background: The purpose of this study is to compare the patterns of voiding dysfunction according to the locations of brainstem lesions. Methods: Between November 2008 and December 2011, a total of 30 patients participated in this study. All 30 subjects, consisting of 16 men and 14 women, aged between 41 and 82 years (mean age, 63.0 ± 11.0 years) underwent a urodynamic study within 7 days after the onset of a stroke. Results: Twenty-one (70%) patients had a pontine lesion and 9 (30%) had a medullary lesion. Fourteen of these patients (46.7%) had bladder storage disorder, 7 patients (23.3%) had bladder emptying disorder, and 9 patients (30%) had a normal report. Five of the patients who had a medullary lesion (55.6%) had bladder emptying disorder, whereas only 2 patients who had a pontine lesion (9.5%) had bladder emptying disorder. Thirteen patients who had a pontine lesion (61.9%) showed bladder storage disorder. Discussion: The descending pathway from the midbrain tegmentum is inhibitory, and the pathway from the pontine tegmentum is stimulatory. Because of their location pontine lesions could disrupt the descending fibers of the midbrain tegmentum and medullary lesions could disrupt the descending fibers of the pontine tegmentum.

Eosinophilic vasculitis of the spinal cord associated with Churg–Strauss syndrome

Eosinophilic vasculitis has been described as part of Churg-Strauss syndrome (CSS), but it also affects the central nervous system in <10% of cases. However, spinal cord involvement in CSS has not been reported. We report a patient with myelopathic symptoms, with a two-year history of asthma. Laboratory tests revealed leukocytosis, with 31.7% eosinophils. A chest computed tomographic scan and radiography showed patchy bilateral areas of consolidation, predominantly involving the peripheral regions of the lower lobes. Spinal cord magnetic resonance imaging (MRI) revealed high-signal-intensity lesions at the C3-C5 and T1-T4 spinal levels on T2-weighted images. A microscopic evaluation revealed an eosinophil-rich inflammatory infiltrate with fibroid necrosis of a vessel wall, and granuloma formation in the small veins was not clearly visible. To the best of our knowledge, this is the first case of eosinophilic vasculitis of the spinal cord associated with CSS, and the patient responded well to steroids.

Clinical significance of anti-annexin V antibody in acute cerebral ischemia

BACKGROUND Antiphospholipid antibodies (aPLs) are associated with vascular occlusive events. Lupus anticoagulant (LA) and anticardiolipin antibody (aCL) are two aPLs commonly used for screening test. However, other aPLs are reported to play a role in the thrombotic events in other disorders, especially autoimmune disease. We investigated the clinical significance of the anti-annexin V antibody (aAV) in patients with acute cerebral ischemia; annexin V promotes anticoagulant activity via inhibition of prothrombin activation. METHODS A total of 187 patients with acute cerebral infarction or transient ischemic attack, and 66 control subjects were included in this prospective study. IgG type aAV was determined by enzyme-linked immunosorbent sandwich assay in the patient and control groups. The presence of LA and aCL were determined in the patient group using the usual screening method. RESULTS IgG aAV was detected in 26 of the 187 patients (13.9%), but only in three of the 66 control subjects (4.5%; P=0.043). Among the 26 aAV positive patients, only five patients were positive for LA or aCL. The presence of IgG aAV was significantly associated with acute cerebral ischemia: one stroke event (OR, 4.39; 95% CI, 1.21-16.01), and two or more stroke events (OR, 3.91; 95% CI, 1.09-14.07). CONCLUSION IgG aAV was detected in a significant percentage of the patients with acute cerebral ischemia compared with the control group. The presence of IgG aAV did not usually coincide with LA or aCL. Thus aAV should be considered as a possible associated factor for acute cerebral ischemia.

Pneumomediastinum Due to Intractable Hiccup as the Presenting Symptom of Multiple Sclerosis

Pneumomediastinum and subcutaneous emphysema generally occurs following trauma to the esophagus or lung. It also occurs spontaneously in such situations of elevating intrathoracic pressure as asthma, excessive coughing or forceful straining. We report here on the rare case of a man who experienced the signs of pneumomediastinum and subcutaneous emphysema after a prolonged bout of intractable hiccup as the initial presenting symptoms of multiple sclerosis.

A case of cerebral erdheim-chester disease with progressive cerebellar syndrome.

Erdheim-Chester disease (ECD) is a rare non-Langerhans form of histiocytosis. Cerebellar involvement is rare in this syndrome. We report a 37-year-old woman with slowly progressive cerebellar ataxia, dysmetria of limbs, nystagmus, and dysarthria, bilateral painful axillary masses, and generalized arthralgia. Brain MRI revealed cerebellar atrophy with focal lesions in the pons, middle cerebellar peduncle, and the cerebellum. She underwent incisional biopsy of her axillary masses which showed findings consistent with ECD. An MRI of her lower extremities revealed lesions in the diaphyses, metaphyses, and epiphyses of the proximal tibia and distal femur bilaterally. This is a rare case of cerebral ECD with progressive cerebellar syndrome associated with cerebellar atrophy.

Whole-Genome Analysis in Korean Patients with Autoimmune Myasthenia Gravis

Purpose The underlying cause of myasthenia gravis (MG) is unknown, although it likely involves a genetic component. However, no common genetic variants have been unequivocally linked to autoimmune MG. We sought to identify the genetic variants associated with an increased or decreased risk of developing MG in samples from a Korean Multicenter MG Cohort. Materials and Methods To determine new genetic targets related to autoimmune MG, a whole genome-based single nucleotide polymorphisms (SNP) analysis was conducted using an Axiom™ Genome-Wide ASI 1 Array, comprising 598375 SNPs and samples from 109 MG patients and 150 neurologically normal controls. Results In total, 641 SNPs from five case-control associations showed p-values of less than 10-5. From regional analysis, we selected seven candidate genes (RYR3, CACNA1S, SLAMF1, SOX5, FHOD3, GABRB1, and SACS) for further analysis. Conclusion The present study suggests that a few genetic polymorphisms, such as in RYR3, CACNA1S, and SLAMF1, might be related to autoimmune MG. Our findings also encourage further studies, particularly confirmatory studies with larger samples, to validate and analyze the association between these SNPs and autoimmune MG.

Correlation between instrumental activities of daily living and white matter hyperintensities in amnestic mild cognitive impairment: results of a cross-sectional study

Although some studies have supported the association between white matter hyperintensities (WMH) and cognitive impairment, whether WMH are associated with the impairments in instrumental activities of daily living (IADLs) remains unknown. This cross-sectional study investigated differences in basic ADLs and IADLs among different severity of WMH in a large, well-defined registry of patients with amnestic mild cognitive impairment (aMCI). 1,514 patients with aMCI were divided into three groups according to the degree of WMH (1,026 mild, 393 moderate, and 95 severe). We compared the total IADL scores and analyzed the prevalence of the impairment for each IADL item for each group. The severity of WMH was associated with the impairments in IADLs. Among 15 Seoul IADL items, “using public transportation”, “going out (short distance)”, “grooming” and “participating in leisure activities/hobbies” showed greater positive association with the severity of WMH. WMH in patients with aMCI were associated with the impairments in IADLs but not in basic ADLs. These findings are likely to be more obvious with respect to using public transportation, going out (short distances), shopping, grooming and participating in leisure activities/hobbies.