Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0013362 (dysarthria)
 3,768 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

INTRODUCTION. Acute intermittent familial ataxia is a rare disorder with autosomal dominant inheritance and unknown etiology which usually in childhood or adolescence. CASE 1. A 33-years-old woman who suffered from giddiness, gait ataxia, dysarthria and somnolence episodes. These episodes lasted between 4 and 72 hours. They generally occurred within a framework of emotional or physical stress. The following tests were performed: hemogram and biochemistry, blood and urine toxicology, immunological tests, cerebrospinal-fluid study, electrocardiogram, electroencephalogram, trunk and visual evocated potentials, cerebral computed tomography and cerebral magnetic resonance imaging. None of them gave significative results. CASE 2. A 12-years-old boy, son of the previous woman, who suffered from somnolence, gait ataxia and dysarthria with acute beginning. The same tests than in the above case were performed together with metabolic studies. There were no pathological findings in this case, either. The symptoms disappeared gradually in 6 days. His familial history led to a diagnosis of acute intermittent familial ataxia. A year later he suffered from a similar disorder and he was immediately treated with acetazolamide. The symptoms disappeared in 2 hours. CONCLUSIONS. Acute intermittent familial ataxia is a disorder of difficult identification. It can be easily confused with other periodical ones, because its diagnosis has to be based on the clinical findings and on the familial history. For this purpose, a therapeutic test with acetazolamide can be useful, since in most cases a spectacular clinical improvement has been observed.
 ...
PMID:[Acute intermittent familial ataxia: report of a new family]. 868 Nov 77

Ischemic stroke involving multiple artery territory with normal vessels gives a clue for an embolic stroke. Paradoxical embolization is a recognized cause of ischemic stroke. We describe a 48-year-old male who presented with acute onset giddiness, mild dysarthria, right hemiparesis, and ataxia. Clinical examinations indicated left cerebellar signs with right hemiparesis. Additionally, the patient had significant clubbing and mild cyanosis. A strong family history of epistaxis and hemoptysis was noted. His Magnetic resonance imaging of the brain showed acute left cerebellar and left frontal cortical infarct with normal vessels. The routine stroke and cardiac workup were normal. Chest X-ray showed bilateral lower zone opacities. Contrast-enhanced computerized tomogram (CT) of the chest showed bilateral pulmonary arteriovenous malformation. Paradoxical embolism due to pulmonary arteriovenous malformation resulted in ischemic stroke in our patient. He fulfilled all of the four criteria for diagnosing definite hereditary hemorrhagic telangiectasia. Our case highlights the importance of a systematic search for paradoxical embolism in a cryptogenic stroke.
 ...
PMID:Paradoxical Embolism in a Case of Hereditary Hemorrhagic Telangiectasia: Case Report with Literature Review. 3264 84