A Case of Rapid Eye Movement Sleep-Related Bradyarrhythmia Syndrome with Severe Obstructive Sleep Apnea Syndrome

A close relationship has emerged between obstructive sleep apnea (OSA) and cardiac arrhythmia. However, transient sinus arrest or atrioventricular (AV) conduction disturbance during rapid eye movement (REM) sleep was rarely reported. This sleep stage specific arrhythmia has been referred to as REM sleep-related bradyarrhythmia syndrome. The differential diagnosis between OSA-related arrhythmia and REM sleep-related bradyarrhythmia syndrome is important in determining the treatment strategy for the underlying disease and its complication, especially in patient with a history of OSA. Here, we report a case with both REM sleep-related AV block and severe OSA, whose REM sleep-related AV block was not improved with continuous positive airway pressure treatment.

First Molecular Diagnosis of a Patient with Unverricht-Lundborg Disease in Korea

Unverricht-Lundborg disease (ULD) is a form of progressive myoclonus epilepsy characterized by stimulation-induced myoclonus and seizures. This disease is an autosomal recessive disorder, and the gene CSTB, which encodes cystatin B, a cysteine protease inhibitor, is the only gene known to be associated with ULD. Although the prevalence of ULD is higher in the Baltic region of Europe and the Mediterranean, sporadic cases have occasionally been diagnosed worldwide. The patient described in the current report showed only abnormally enlarged restriction fragments of 62 dodecamer repeats, confirming ULD, that were transmitted from both her father and mother who carried the abnormally enlarged restriction fragment as heterozygotes with normal-sized fragments. We report the first case of a genetically confirmed patient with ULD in Korea.

The Association between Fat Mass, Lean Mass and Bone Mineral Density in Premenopausal Women in Korea: A Cross-Sectional Study / 가정의학회지

BACKGROUND: We investigated the association between body composition, especially truncal or non-truncal fat mass (FM), and bone mineral density (BMD) in premenopausal women in Korea. METHODS: A cross-sectional study was performed using data from the Korea National Health and Nutrition Examination Survey IV and V (2008–2011). Total lean mass (LM), total FM (TFM), truncal FM, and non-truncal FM, and BMD of the total femur, femoral neck (FN), and lumbar spine were measured using dual-energy X-ray absorptiometry. The association between body composition and BMD was analyzed using multiple linear regression. The risk of low BMD according to quartiles of TFM, truncal FM, and non-truncal FM was calculated using logistic regression. Subgroup analysis according to body mass index was also performed. RESULTS: In 4,343 premenopausal women, total LM was positively associated with BMD regardless of weight adjustment. TFM, truncal FM, and non-truncal FM were inversely associated with BMD after adjusting for weight. Odds ratios (ORs) for low BMD and 95% confidence intervals (CIs) of the highest quartile of TFM, truncal FM, and non-truncal FM compared with the lowest quartile were calculated. The risk of low BMD of the FN was higher in the highest quartile of TFM (OR, 4.48; 95% CI, 1.11–18.01) and truncal FM (OR, 5.48; 95% CI, 1.75–17.20). Truncal FM and not-truncal FM had an inverse association with BMD in the non-obese and obese subgroups of women. CONCLUSION: Total LM has a protective effect on BMD and FM can have a detrimental effect on BMD besides its skeletal loading effect.

Management of Alcohol Withdrawal Syndrome and Alcohol Withdrawal Seizure

Alcohol withdrawal syndrome (AWS) is a common condition occurring after intentional or unintentional abrupt cessation of alcohol in an alcohol-dependent individual. AWS represents a major problem in our society and alcohol withdrawal seizure is the major cause of seizures encountered by neurology residents in the emergency department. Patients with AWS present with mild symptoms of tremulousness and agitation or more severe symptoms including withdrawal seizures and delirium tremens. Particularly, severe AWS can produce significant rates of the morbidity (complications) and mortality. When diagnosed and managed insufficiently, the morbidity and mortality rates increase. Nevertheless, patients with AWS may be neglected and are often marginalized and the teaching about AWS to neurology residents is usually minimal. Also, attending neurologists are often poorly informed on the topic. Although there is insufficient consensus about the optimal investigation and management, the purpose of this review is to serve as a summary of the appropriate identification and management of this important condition in a neurological setting.

Typical Aura without Headache Presenting Intermittent Transient Visual Symptom

No abstract available.

Clinical Utility of Bone Marrow Study in Gaucher Disease: A Case Report of Gaucher Disease Type 3 With Intractable Myoclonic Seizures

No abstract available.

Two Cases of Sleep-Related Painful Erection

Sleep-related painful erection (SRPE) is characterized by deep penile pain accompanied with erection occurring rapid eye movement (REM) movement period. Two (47-year-old and 40-year-old, respectively) male visited with the complaint of painful penile erection occurring during sleep. They had no problems with erection during daytime sexual activities except for mild premature ejaculation in one patient. Urologic inspections revealed no focal abnormalities. Polysomnography with simultaneous penile erection monitoring showed several episodes of awakening with painful erection which are time-locked to onset of REM sleep periods. According to the diagnostic criteria in international classification of sleep disorders, each patient was diagnosed to have chronic, severe SRPE. Despite of a low prevalence of SRPE, this condition should be considered in a patient who presents with nocturnal penile. A polysomnography accompanied with penile erection recording may help confirm diagnosis.

Prophylactic Effect of Erythropoietin Injection to Prevent Acute Mountain Sickness: An Open-Label Randomized Controlled Trial

This study was performed to evaluate whether increasing hemoglobin before ascent by prophylactic erythropoietin injections prevents acute mountain sickness (AMS). This open-label, randomized, controlled trial involved 39 healthy volunteers with hemoglobin or =3 were present. Immediate descent criteria followed US Army recommendations. Two groups differ in hemoglobin levels on day 29 (15.4+/-1.1 vs 14.2+/-1.0 g/dL, P=0.001). At ABC, erythropoietin group had a significantly lower mean LLS, AMS incidence, and number of subjects who met immediate descent criteria. Multiple logistic regression analysis showed that SaO2<87% and control group, but not hemoglobin<15.0 g/dL, independently predicted satisfaction of immediate descent criteria. Erythropoietin-related adverse effects were not observed. In conclusion, erythropoietin may be an effective prophylaxis for AMS.(Clinical Trial Registry Number; NCT 01665781).

Efficacy of Phenytoin for Nocturnal Muscle Cramps: A Preliminary Study

BACKGROUND: Nocturnal muscle cramps are sudden, involuntary, painful muscle contractions that occur in the night and are accompanied by hardening of the muscles. Many symptomatic treatments have been introduced for nocturnal muscle cramps, such as quinine, magnesium, and phenytoin. However, the efficacy and safety of these drugs have not been adequately evaluated. To demonstrate the efficacy and safety of phenytoin treatment for nocturnal muscle cramps, we conducted a retrospective study of 16 patients with nocturnal muscle cramps. METHODS: We reviewed 16 patients (6 men, 10 women) who suffered frequent nocturnal muscle cramps and were treated with phenytoin. The patients' clinical information (age, sex, disease duration, and locations of cramps), treatment dosage, and frequency of cramps were obtained by reviewing their medical records. RESULTS: The patients were aged 63.1+/-14.7 years (mean+/-SD; age range, 30-80 years; median age, 68 years). Twelve and four patients received phenytoin doses of 100 and 200 mg/day, respectively. The median duration of medication was 51 days (range, 14-378 days). Phenytoin treatment was effective in all patients; 13 patients (81.3%) experienced a total remission of their symptoms, and a significant reduction (66.7-85.7%) in the frequency of cramps was found in the remaining 3 patients. No adverse effects were reported by any of the patients. CONCLUSIONS: While this retrospective study was conducted with only a small number of patients, the clinical results suggest that phenytoin is a safe and helpful therapy for the treatment of nocturnal muscle cramps.

Glossopharyngeal Neuralgia Secondary to Tongue Squamous Cell Carcinoma

No abstract available.

Rheumatoid Meningitis: Neurologic Manifestation and Pathologic Findings

Rheumatoid meningitis, one of the most severe complications of rheumatoid arthritis, presents various symptoms such as headache, confusion, loss of consciousness, seizure, fever, and focal neurological deficits. A 63-year-old man with the history of rheumatoid arthritis presented with intermittent left leg weakness, seizures and later developed fever and confusion. Brain MRI demonstrated leptomeningeal enhancement in right fronto-parietal area. Brain biopsy revealed multifocal suppurative inflammation. After aggressive immunosuppressive treatment, he had gradually recovered and the lesion was reduced on a follow-up MRI.

The Localizing and Lateralizing Value of Auras in Lesional Partial Epilepsy Patients

PURPOSE: We investigated the localizing and lateralizing values of auras in patients with lesional partial epilepsy on an outpatient basis. MATERIALS AND METHODS: A total of 276 subjects were retrospectively selected for this study if they had a unilateral single lobar lesion based on magnetic resonance image (MRI) results, and their scalp electroencephalography (EEG) findings were not discordant with the MRI-defined lobar localization and lateralization. According to the lesion locations, subjects were considered as having mesial temporal (MTLE), lateral temporal (LTLE), frontal (FLE), parietal (PLE), or occipital (OLE) lobe epilepsies. Auras were classified into 13 categories. RESULTS: A hundred and seventy-six subjects (63.8%) had experienced at least one aura. FLE subjects had the fewest number of auras. Epigastric and psychic auras were frequent among MTLE subjects, while visual auras were common in those with PLE and OLE. Somatosensory auras and whole body sensations were more frequent in the subjects with PLE than those without. Autonomic auras were more common in MTLE subjects than in LTLE subjects. Dysphasic auras were more frequently found in left-sided epilepsies. Five pairs of aura categories showed concurrent tendencies, which were the epigastric and autonomic auras, autonomic and emotional auras, visual and vestibular auras, auditory and vestibular auras, and whole-body sensation and auditory auras. Autonomic and emotional auras had a concurrent tendency in left-sided epilepsies, but not in right-sided epilepsies. CONCLUSION: Our results support the previously known localizing value of auras, and suggest that dysphasic auras and the association of emotional and autonomic auras may have a lateralizing value.

Insulinoma Presenting as Hypersomnia and Unconscious Wandering

Insulinoma is a rare endocrine tumor that frequently causes neurologic symptoms. We report a case of a 17-year-old man with hypersomnia and abnormal behavior lasting for 10 months. He had recurrent attacks of hypersomnia that lasted for up to 36 hours and of unconscious wandering mimicking an ictal or postictal state. Hypoglycemia was documented (30 mg/dL) and insulinoma was found at the most-recent episode. Clinicians should be aware that hypersomnia and unconscious wandering can present in association with hypoglycemia.

The presence of high level soluble herpes virus entry mediator in sera of gastric cancer patients

The development of gastric cancer (GC) is closely related to chronic inflammation caused by Helicobacter pylori infection, and herpes virus entry mediator (HVEM) is a receptor expressed on the surface of leukocytes that mediates potent inflammatory responses in animal models. However, the role of HVEM in human GC has not been studied. Previously, we showed that the interaction of HVEM on human leukocytes with its ligand LIGHT induces intracellular calcium mobilization, which results in inflammatory responses including induction of proinflammatory cytokine production and anti-bacterial activities. In this study, we report that leukocytes from GC patients express lower levels of membrane HVEM (mHVEM) and have lower LIGHT-induced bactericidal activities than those from healthy controls (HC). In contrast, levels of soluble HVEM (sHVEM) in the sera of GC patients were significantly higher than in those of HC. We found that monocyte membrane-bound HVEM is released into the medium when cells are activated by proinflammatory cytokines such as TNF-alpha and IL-8, which are elevated in the sera of GC patients. mHVEM level dropped in parallel with the release of sHVEM, and release was completely blocked by the metalloprotease inhibitor, GM6001. We also found that the low level of mHVEM on GC patient leukocytes was correlated with low LIGHT-induced bactericidal activities against H. pylori and S. aureus and production of reactive oxygen species. Our results indicate that mHVEM on leukocytes and sHVEM in sera may contribute to the development and/or progression of GC.

New antiepileptic drugs

Epilepsy is one of the most common chronic neurologic conditions. Pharmacologic therapy is by far the most common approach, with the other modalities typically limited to patients with pharmacoresistant epilepsies. A host of new antiepileptic drugs (AEDs) have been introduced over the last 20 years. The AEDs including the conventional ones are more or less equally effective in patients with partial epilepsy. Therefore, relative efficacy is not a useful factor in selecting a particular drug. A conventional AED, valproic acid is regarded as having superior efficacy than the other broad-spectrum AEDs including new ones in patients with generalized epilepsy. However, it can have considerable side effects, such as reproductive dysfunction and teratogenicity to young women with epilepsy. One of the clearest advantages of many new AEDs over the conventional ones has been their more favorable pharmacokinetic and drug-drug interaction profiles compared with the conventional ones involved in the cytochrome P450 enzymatic system, which may change the levels of other antiepileptic and nonantiepileptic drugs, and endogenous substances. Many new AEDs have unique mechanisms of action and slightly better tolerability than the conventional ones. Several new AEDs can allow young women with epilepsy, particularly those with idiopathic generalized epilepsy, to avoid valproic acid treatment. Furthermore, the new AEDs may provide a modest but positive effect in seizure control, particularly as an add-on treatment. The greater variety of AEDs allows better patient tailoring according to patient's characteristics and contributes to improvement in quality of life.

A Case of Long-term Follow-up Rasmussen's Encephalitis / 대한간질학회지

Rasmussen encephalitis (RE) is a rare, severe, and progressive disorder characterized by focal motor seizures, epilepsia partialis continua, hemiparesis, and intellectual decline. Although clinical features of RE are heterogenous, the progression of the disease is generally divided into three stages which are prodromal, acute, residual stages. We report a 29-year-old woman who had shown typical progression of the disease but preserved cognitive function during a longterm follow-up.

Intramedullary Spinal Cord Cavernous Hemangiomas Presented With Radiculopathy

Cavernous hemangioma may exist in the spinal cord as well as intracranium. Intramedullary spinal cord cavernous hemangioma usually manifests with myelopathy. We report a case of intramedullary cavernous hemangiomas having presented with isolated radicular pain.

Neurocutaneous Melanosis Presenting as Chronic Partial Epilepsy

BACKGROUND: Neurocutaneous melanosis (NCM) is a rare neurocutaneous syndrome characterized by the presence of multiple congenital melanocytic nevi (CMN) and the proliferation of melanocytes in the central nervous system, usually involving the leptomeninges. Chronic partial epilepsy as a sole manifestation is rare in NCM. CASE REPORT: A 32-year-old man suffering from chronic partial epilepsy presented with multiple CMN on his trunk and scalp. Brain MRI demonstrated a focal lesion in the right amygdala that was consistent with interictal epileptiform discharges in the right temporal region on electroencephalography (EEG). An anterior temporal lobectomy was performed, and the pathology investigation revealed numerous melanophages in the amygdala. The patient was seizure-free after surgery. CONCLUSIONS: We report a patient with NCM presenting as chronic partial epilepsy who was successfully treated by anterior temporal lobectomy.

Antiepileptic Drugs and Congenital Malformations, and Seizure Control during Pregnancy / 대한간질학회지

Epilepsy is one of the most common neurological problems in pregnancy. For the majority of women, pregnancy proceeds without any apparent difficulties but there is growing evidence of an increased risk of major malformations and later cognitive problems in children exposed to antiepileptic drugs in utero. Updated evidence from several prospective pregnancy registries suggests an increased risk of major malformations with valproic acid compared with other antiepileptic drugs, becoming more evident as doses exceed 1,000 mg/day. The effects of polytherapy appear to carry greater risks compared with monotherapy. Limited data exist for the newer AEDs except for lamotrigine. Although most women with epilepsy have no change in seizure frequency, seizures, especially generalized tonic-clonic seizures can produce adverse effects on mother and fetus. Data about the risk associated with seizures in pregnancy are limited. The pregnancy registry will be performed in Korea to assess the relative risk of major congenital malformation from in utero exposure to antiepileptic drug and to analyze seizure control and treatment in pregnant women with epilepsy.

Chronic Recurrent Cholangitis Induced by Carbamazepine / 대한간질학회지

Carbamazepine (CBZ) is one of the most commonly used antiepileptic agents. With its potent effects against seizure or neuropathic pain, it also has several undesirable adverse events. CBZ has been known to induce hepatotoxicity because the drug is mainly metabolized through hepatic system, and asymptomatic liver enzyme elevation occurs in 5~10% of patients receiving CBZ. There are several cases of symptomatic hepatitis or hepatic necrosis by CBZ, however, reports of chronic cholangitis associated with CBZ medication are rare. Here, we present a case of chronic recurrent cholangitis by CBZ with pathological evidence.