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)

Scleromyxedema is a rare disease of unknown etiology primarily affecting the skin, characterized by generalized papular eruption, dermal fibroblast proliferation with mucin deposition, and a monoclonal gammopathy. Neurological impairment is a rare but sometimes fatal complication of scleromyxedema that should be rapidly identified to prevent significant morbidity and mortality. A 63-year-old Caucasian man had a 2-year history of scleromyxedema, and was under immunosuppressive treatment with ciclosporine and methotrexate. The patient came to our attention because of sudden neurological dysfunction with altered sensorium, confusion, and dysarthria. After a few hours since admission, the patient developed left hemiparesis, followed after 2 days by right hemiparesis. The brain computed tomography and cerebrospinal fluid examination results were normal. Brain magnetic resonance imaging (MRI) showed a bilateral cortical hyperintense signal on T2 sequences with leptomeningeal enhancement. Extensive serological and liquoral evaluations were performed without significant findings. After steroid initiation, a remarkable neurological improvement was noticed. The dramatic and immediate response of the patient's to steroid and MRI data strongly suggested a dysimmune etiology. Over the ensuing week, the patient's language, motor, and sensory functions continued to improve. Two weeks after admission, the patient was discharged to home without significant neurological sequelae.
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PMID:Neurological Involvement in the Course of Scleromyxedema: A Case Report. 2728 3

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

Medullary compression syndrome due to anomalous course of blood vessels is a rare disease most commonly seen in the adult population. The offending vessels causing this syndrome are mostly posterior inferior cerebellar artery or the vertebral artery. The symptoms of this syndrome vary from most common hypertension to various other neurologic deficits like hemiplegia, dysesthesia, and dysarthria. Intractable dizziness is a rare symptom of this disease. The definite management plan for this disease is microvascular decompression. We present our case of medullary compression syndrome which manifested as intractable dizziness. We describe our experience in the management of this patient as well as present a review of literature of this rare disease.
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PMID:Medullary Compression Due to Ectatic Vertebral Artery-Case Report and Review of Literature. 3169 78


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