We describe a unique patient with progressive external ophthalmoplegia, intestinal pseudo-obstruction, and neurogenic bladder. Genetic study in this patient shows point mutation at T8356C, the locus known as that of myoclonic epilepsy with ragged-red fibers. To the best of our knowledge, this is the first report of a mitochondrial syndrome consisting of intestinal pseudo-obstruction, neurogenic bladder, and progressive external ophthalmoplegia, point mutation at T8356C. We suggest that this could comprise a new mitochondrial disease rather than a new variant of mitochondrial neurogastrointestinal encephalomyopathy.
Humans ; Intestinal Pseudo-Obstruction* ; MERRF Syndrome ; Mitochondrial Diseases* ; Ophthalmoplegia, Chronic Progressive External ; Point Mutation* ; Urinary Bladder, Neurogenic*

BACKGROUND: In the western hemisphere, resistance to activated protein C (APCR) is the most common risk factor for venous thromboembolic disease. A one-point mutation in the coagulation factor V that renders it APCR is found in more than 90% of patients with APC-resistant venous thrombosis. In Hispanic and Caucasian patients with arterial ischemic stroke, the prevalence of APC-R is approximately 10%. To determine the prevalence of APC resistance and its causative factor V mutation (Arg 506 Gln) in Koreans, we screened a group of Korean ischemic stroke patients. METHODS: We evaluated 60 Korean patients with arterial ischemic stroke diagnosed by either magnetic resonance neu-roimaging, conventional angiogram, or both, after 2 weeks of symptom onset. The mean age of the subjects was 59.2 years (13-82 years). APC resistance was expressed as a ratio of the activated partial thromboplastin time (aPTT) with and without adding APC to the subject's plasma. The presence of the factor V Leiden (Arg 506 Gln) mutation was determined by a direct polymerase chain reaction-based assay on peripheral blood leukocytes. RESULTS: Only one patient (n=1/60, 1.6%) had APC resistance and none were found to have the factor V Leiden (Arg 506 Gln) mutation. CONCLUSIONS: APCR and the factor V Leiden mutation do not seem to be a significant genetic risk factor for arterial ischemic stroke in Koreans.
Activated Protein C Resistance* ; Factor V* ; Hispanic Americans ; Humans ; Leukocytes ; Partial Thromboplastin Time ; Plasma ; Prevalence ; Protein C ; Risk Factors ; Stroke* ; Venous Thrombosis

BACKGROUND AND PURPOSE: The epidemiology and impact of headache disorders are only partially documented for Asian countries. We investigated the prevalence and impact of migraine and tension-type headache - which are the two most common primary headache disorders - in a Korean population. METHODS: A stratified random population sample of Koreans older than 19 years was selected and evaluated using a 29-item, semistructured interview. The questionnaire was designed to classify headache types according to the criteria of the International Classification of Headache Disorders, second edition, including migraine and tension-type headache. The questionnaire also included items on basic demographics such as age, gender, geographical region, education level, and income, and the impact of headache on the participant. RESULTS: Among the 1507 participants, the 1-year prevalence of all types of headaches was 61.4% (69.9% in women and 52.8% in men). The overall prevalence rates of migraine and tension-type headaches were 6.1% (9.2% in women and 2.9% in men) and 30.8% (29.3% in women and 32.2% in men), respectively. The prevalence of migraine peaked at the age of 40-49 years in women and 19-29 years in men. In contrast to migraine, the prevalence of tension-type headache was not influenced by either age or gender. Among individuals with migraine and tension-type headache, 31.5% and 7% reported being substantially or severely impacted by headache, respectively (Headache Impact Test score > or =56). Overall, 13.4% of all headache sufferers reported being either substantially or severely impacted by headache. CONCLUSIONS: The 1-year prevalence rates of migraine and tension-type headache in the studied Korean population were 6.1% and 30.8%, respectively. One-third of migraineurs and some individuals with tension-type headache reported being either substantially or severely impacted by headache.
Asian Continental Ancestry Group ; Demography ; Female ; Headache ; Headache Disorders ; Headache Disorders, Primary ; Humans ; Korea ; Male ; Migraine Disorders ; Prevalence ; Tension-Type Headache ; Surveys and Questionnaires

Traditionally, monocular parital oculomotor pareses are localized to the cavernous sinus or retro-orbital region and are usually caused by diabetes mellitus, aneurysms of the internal carotid artery, inflammation by vrial infection or autoimmune diseases, neuropathy or neuromuscular disesases. Although rare, the monocular partial oculomotor paresis also can be caused by lesions of ventral midbrain because of their particular topographic arrangement. We present 2 cases with fascicular oculomotor nerve involvement from midbrain lesion, who presented with monocular partial ocu-lomotor nerve palsy. One patient showed partial ptosis and slow saccadic movement of the right eye. The other patient showed parital ptosis and limitation of adduction and elevation in the left eye. They had normal pupil size and light reflexes. Brain magnetic resonance images showed focal infarction in the fascicular portion of the oculomotor nerve.
Aneurysm ; Autoimmune Diseases ; Brain ; Carotid Artery, Internal ; Cavernous Sinus ; Diabetes Mellitus ; Humans ; Infarction* ; Inflammation ; Mesencephalon* ; Oculomotor Nerve Diseases* ; Oculomotor Nerve* ; Paralysis ; Paresis ; Pupil ; Reflex

Mercury poisoning affects various organs including peripheral and central nervous systems, especially cerebellum. We report a case of mercury intoxication presenting cerebellar ataxia. From several days after exposure to mercury vapor, scanning speech, head titubation, bilateral limb and truncal ataxia developed and progressed slowly. On admission, brain MRI did not show remarkable change. However, nine months later, atrophic changes in both cerebellar hemispheres on follow-up brain MRI and perfusion defects in same areas on brain SPECT were found.
Ataxia ; Brain ; Central Nervous System ; Cerebellar Ataxia* ; Cerebellum ; Extremities ; Follow-Up Studies ; Head ; Magnetic Resonance Imaging ; Mercury Poisoning ; Perfusion ; Poisoning ; Tomography, Emission-Computed, Single-Photon

No abstract available.
Magnetic Resonance Imaging* ; Spinal Cord* ; Subacute Combined Degeneration* ; Vitamin B 12 Deficiency

BACKGROUND: Small deep cerebral infarct can be associated with small-vessel occlusive disease, largevessel disease, low-flow or thrombo-embolic mechanism. This study is designed to investigate ralationship between symptomatic single small deep infarcts ahd vascular diseases. METHODS: We studied 154 patients who had symptomatic, small-sized(<20 mm), single, subcortical infarction(basal ganglia, corona rediata, centrum semiovale) who were admitted to our hospital from jund, 1996 to September, 1999. They were evaluated about the lesion site and vascular status of the carotid system and middle cerebral artery, using MRI, MRA and cervical duplex sonography or conventional angiography. RESULTS: Among 154 patients with single small deep infarction, 100 were related with small artery disease(64.9%), 38 with middle cerebral artery disease(26.7%) and 16 with carotid artery disease(10.4%). The basal ganglia or basal ganglia with corona radiata area were more frequently responsible lesion sites in both small artery disease(n=59, 59%) and middle cerebral artery disese(n=28, 73.7%) than in carotid artery disease(n=1, 6.3%). The centrum ovale or centrum ovale with corona radiata area were frequently involved lesion sites in carotid artery disease (n=10, 67.5%). CONCLUSION: Single small deep infarcts of th basal ganglia with corona radiata were mostly seen in the middle cerebral artery disease or small artery disease, and small deep infarcts of the centrum semiovale with corona radiata were usually assoicated with internal carotid artery disease. In occurrence of single small deep infarcts, middle cerebral artery disease was more frequent than carotid artery disease, which might be associated with intracranial occlusive disease known to be more common in Asians than in Caucasians.
Angiography ; Arteries ; Asian Continental Ancestry Group ; Basal Ganglia ; Carotid Arteries ; Carotid Artery Diseases ; Carotid Artery, Internal ; Cerebral Infarction* ; Ganglia ; Humans ; Infarction ; Magnetic Resonance Imaging ; Middle Cerebral Artery ; Vascular Diseases

Autologous fat injection for soft tissue augmentation in the face has been claimed to be a safe procedure. However, there are several case reports where patients suffered from various neurologic deficits following fat injections. We report a patient who suffered from cerebral infarction after fat injections into the face. We assume that fragments of fat reach cerebral arteries by reversed flow through the branches of the carotid arteries caused by local increase in pressure in highly vascularized tissue.
Carotid Arteries ; Cerebral Arteries ; Cerebral Infarction ; Humans ; Neurologic Manifestations ; Stroke*

The incidence of thymolipoma or thynuc cyst is very rare among the tumors of thymic origin, which are usually benign or invasive thymoma. Thymic tumor has been found among 10 to 15% of the patients with myasthenia gravis(MG). However the patients with thymolipoma or thynuc cyst rarely manifestated as MG. Moreover the case of MG with thymolipoma and thymic cyst is extremely rare ; Only one case has been reported hitherto. We hereby report a 41-year-old woman presenting as ocular MG with thymolipoma and thymic cyst. She complained diplopia, ptosis and headache, which had begun 3 months prior to admission and have been fluctuating thereafter. Ocular MG was confirmed by positive Tensilon and Jolly test. Her chest CT showed an enlarged thymus which turned out to be thymolipoma with thymic cyst on the pathologic examination. Although rare, thymolipoma and/or thymic cyst should be considered in the differential diagnosis of thymic tumor in MG.
Adult ; Diagnosis, Differential ; Diplopia ; Edrophonium ; Female ; Headache ; Humans ; Incidence ; Mediastinal Cyst* ; Myasthenia Gravis* ; Thymoma ; Thymus Gland ; Thymus Neoplasms ; Tomography, X-Ray Computed

No abstract available.
Diagnosis*