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

Protein C deficiency is a cause of thromboembolic disease. Venous thrombosis is the most common clinical manifestation. Arterial thrombosis is unusual and involvement of the intracranial arteries is especially rare. Herein the authors describe a case of cerebral [correction of cerebellar] infarction associated with protein C deficiency and review the relevant medical literature. A thirty-year-old man was hospitalized because of dysarthria, right limb ataxia, and a gait disturbance. Cranial computed tomography disclosed an infarction in the right cerebellar hemisphere and brachium pontis. Three months earlier the patient had had a transient ischemic attack with truncal ataxia and gait disturbances. On admission, the protein C antigen was 57% and protein C activity was 45%. Investigation of family members revealed protein C deficiency in an uncle. Literature review of stroke cases associated with protein C deficiency revealed that most had had a previous vascular event and/or a positive family history or had used oral contraceptives chronically. Protein C deficiency should be considered in young stroke patients with a positive family history of vaso-occlusive disease, previous ischemic events, or chronic oral contraceptive use.
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PMID:Cerebral infarction in a young adult associated with protein C deficiency. A case report. 770 3

A 15-year-old woman with a history of transient dysarthria two years before, suddenly developed weakness of right upper extremity, right facial palsy, and dysarthria. She was admitted to our hospital on the third day. She had no hypertension, heart murmur and oedema. On neurological examination, she had mild right hemiparesis including face muscles and mild dysarthria. The right knee jerk was brisk with no Babinski's sign. Ataxia and sensory disturbance were not present. T2-weighted MRI showed a hyperintensity at the posterior limb of the left internal capsule. Cerebral angiography was unremarkable. Ultracardiography and 24-hour electrocardiography were normal. Laboratory data revealed no inflammatory findings, liver dysfunction, hyperglycemia and hyperlipidemia. Antinuclear and anticardiolipin antibodies were negative. Prothrombin time was normal, but activated partial thromboplastin time was slightly prolonged (35.4 sec, normal 25.2-34.4). Protein C, protein S and antithrombin III were normal. Heparin cofactor II (HC II) activity was decreased (44%) with normal HC II antigen (79%) and so she was diagnosed as heparin cofactor II deficiency type II (heparin cofactor II abnormality). Her father manifesting thromboangitis obliterans also had low HC II activity with normal HC II antigen. However, on her genetic analysis, we didn't detect any mutations in the coding region of HC II gene. Until now she has no recurrence of cerebrovascular attacks. On the basis of these results, we suspect that HC II deficiency was a possible risk factor of cerebral infarction in this case because she was so young and had no general risk factors except for HC II. No stroke associated with HC II deficiency type II has been reported up to date. This case is worth considering etiologies of juvenile cerebral infarction.
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PMID:[Juvenile cerebral infarction associated with heparin cofactor II abnormality. A case report]. 1096 62

We report an unusual case of a pontine ischemic stroke associated with activated protein C resistance as well as an embolic source in the form of a cardiac valvular lesion. A 31-year-old man had a sudden onset of right hemiparesis and a severe dysarthria. Cranial magnetic resonance imaging (MRI) showed a nonhemorrhagic pontine lesion with essentially negative craniocervical MR angiography. His transesophageal echocardiogram showed a papillary fibroelastoma on the aortic valve. His laboratory studies showed significant activated protein C resistance at 1.7 (normal, >2.1). Other laboratory parameters, including sedimentation rate, were unremarkable. This case suggests that activated protein C resistance may serve as a cofactor in some cases of ischemic stroke, particularly stroke associated with emboligenic cardiac lesions.
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PMID:Ischemic stroke associated with activated protein C resistance and aortic valvular papillary fibroelastoma. 1789 38

A 41-year-old male with a history of human immunodeficiency virus (HIV) infection developed motor aphasia, dysarthria, and right hemiparesis. A magnetic resonance imaging scan of the brain revealed a cerebral infarction in the territory of the left middle cerebral artery. The laboratory data showed decreased levels of protein S and protein C. Transesophageal contrast-enhanced echocardiography revealed a patent foramen ovale (PFO). Prothrombotic states, such as protein S and C deficiency, have been reported in HIV-infected patients. In addition, previous studies have reported prothrombotic states to be risk factors for PFO-related cerebral infarction. An association between combined protein S and C deficiency caused by HIV infection and PFO-related cerebral infarction was suggested in our patient.
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PMID:Cerebral infarction in an HIV-infected patient with combined protein S and C deficiency and a patent foramen ovale. 2366 14

Primary angiitis of the central nervous system (PACNS) is a rare disease with various clinical presentations. It is the preferred name for vasculitis that is confined to the central nervous system (CNS) and is often considered a diagnosis of exclusion in vascular or inflammatory CNS diseases. This case describes a 46-year-old right-handed female with a past medical history of hypertension (HTN), hyperlipidemia (HLD), diabetes mellitus type two (DM2), obesity, and hemorrhagic stroke who was transferred from an outside facility after a one-month hospitalization to be evaluated for CNS vasculitis. Emergency medical personnel who brought the patient to the receiving hospital endorsed dysarthria and fluctuating level of cognition. Before she was transferred, the patient underwent a series of computed tomography (CT) and magnetic resonance imaging and angiographies (MRI/MRA) as well as four-vessel angiography. The studies revealed multiple bilateral striatal and cortical infarcts, scattered narrowing and occlusion of major cerebral vasculature, as well as other signs initially more suggestive of intracranial atherosclerosis than CNS vasculitis. Before she was transferred, imaging demonstrated a new cortical stroke. Hypercoagulable studies were positive for protein C deficiency although ensuing echocardiograms with normal ejection fractions were negative for a source of cardioembolism. Having undergone extensive rheumatological, radiological, and neurosurgical evaluation in the receiving facility, recommendations were made for the patient to undergo leptomeningeal biopsy to confirm the diagnosis of vasculopathy and to specifically rule out intracranial atherosclerosis and reversible cerebral vasoconstriction syndrome (RCVS).
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PMID:Intracranial Atherosclerosis Versus Primary Angiitis of the Central Nervous System: a Case Report. 3025 20

We reported a 31-year-old man with recurrent cerebral venous thrombosis caused by congenital protein C deficiency. He was diagnosed with cerebral venous thrombosis before 7 months. He was transferred to our hospital with numbness of right hand and right side of face, and dysarthria. The blood examination showed that his protein C antigen level and protein C activity were decreased than the lower limits of normal. Brain magnetic resonance venography showed poor visualization of the superior sagittal sinus and cortical veins. Genetic analysis revealed a single-base substitution (C>T) at the codon 811 (Arg to Trp) in the 9th exon portion of the protein C gene. Taking those results, he was diagnosed with recurrent cerebral venous thrombosis due to congenital protein C deficiency. Cerebral venous sinus thrombosis that occurred in the absence of an incidents of disease or internal history when there is a juvenile onset, a past history, or a family history, is suspected of congenital thrombophilia and needs blood tests and genetic tests.
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PMID:[A case of recurrent cerebral vein thrombosis with protein C gene mutation identified]. 3048 63