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)

A 36-year-old man was admitted to Kanto Chuo Hospital because of hearing loss and dysphagia. On admission physical and neurological findings revealed obesity, hypertension, nystagmus, right hearing loss, dysarthria, and dysphagia. Routine laboratory findings disclosed leukocytosis, liver dysfunction, hypercholesterolemia, proteinuria, and glucosuria. Immunological, coagulopathic, and endocrinological findings, electrocardiogram, echocardiogram, and brain CT scan were unremarkable. He was diagnosed as brainstem infarction, and then conservative therapies were begun. Seven hours after admission, he suddenly fell into coma and apneutic state, requiring artificial ventilation. The next day he was fully conscious, but could'nt make any voluntary movements except for vertical eye movements, suggesting locked-in syndrome (LIS). Brain MRI showed infarction of pons, medulla oblongata, and right cerebellum. Cerebral angiography revealed hypoplasia of bilateral vertebral arteries, a persistence of right primitive trigeminal artery (PTA), and retrograde blood flow of basilar artery from the PTA. Then he made a rapid recovery, and on 80th day he was discharged only with right hearing disturbance and mild left cerebellar sign. We speculated that hypoplasia of the bilateral vertebral arteries caused the brain infarction, and that back flow of the basilar artery from the PTA, in part, contributed to the early recovery from the LIS.
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PMID:[Early recovery from locked-in syndrome due to brain infarction in a young patient with hypoplasia of bilateral vertebral arteries and a persistence of primitive trigeminal artery]. 895 55

A 70-year-old patient with a history of hypertension and hypercholesterolemia was referred for evaluation of necrotic toes. The patient had a history of several cerebrovascular accidents during the previous month. Initially, she developed sudden-onset left upper extremity weakness which, over the ensuing 4 days, progressed to complete left-sided weakness. This was followed by the development of acute dysarthria. A transesophageal echocardiogram revealed moderate left ventricular hypertrophy, several vegetations on her tri-leaflet aortic valve associated with moderate aortic regurgitation, and a large right atrial thrombus with a mobile component. Bubble studies failed to reveal any septal defects. The patient's electrocardiogram was nonspecific. As serial blood cultures were negative despite fevers of up to 39.8 degrees C, the patient was treated with a 6-week course of intravenous ceftriaxone, ampicillin, gentamicin, and ciprofloxacin for a presumed diagnosis of culture-negative endocarditis. Fungal cultures of the blood were negative. The patient, however, progressed and developed several necrotic toes. Physical examination was significant for ischemic changes of the left first, second, third, and fifth toes, as well as the right first and second toes. Diffuse subungual splinter hemorrhages in the toenails, numerous 2-4-mm palpable purpuric papules on the lower extremities, and nontender hemorrhagic lesions of the soles were also noted. Peripheral and carotid pulses were intact and no carotid bruits were heard. Cardiopulmonary and abdominal examinations were unremarkable. Neurologic examination revealed a disoriented, dysarthric patient with left central facial nerve paralysis, as well as spasticity, hyperactive reflexes, and diminished strength and sensation in the left upper and lower extremities. A left visual field defect and left hemineglect were also present. The patient's last brain computerized tomogram revealed areas of low attenuation consistent with cerebral infarctions in three distinct areas of the brain. These included the left occipitotemporal area, the right parieto-occipital area, and the right posterior frontal region. The regions affected were in the distribution of both the anterior and posterior circulation. No evidence of hemorrhage was noted. The patient subsequently complained of abdominal discomfort. A computerized tomogram of the abdomen with oral and intravenous contrast revealed a 4-cm x 3-cm irregular mass in the tail of the pancreas with several low-attenuation lesions throughout the liver which were consistent with infarctions or metastases. Several splenic infarctions were also present. A biopsy of the tumor revealed pancreatic adenocarcinoma. The patient's carcinoembryonic antigen level was 18. 4 ng/mL (0-3) and the CA 19-9 antigen level was 207,000 U/mL (0-36). The alpha-fetoprotein level was normal. Other significant laboratory findings included a prothrombin time of 16.7 (international normalized ratio, 1.4), an activated partial thromboplastin time of 32 (ratio, 1.3), and a platelet count of 85,000/mm3. The Russell viper venom time, sedimentation rate, and C3 levels were normal, and the patient was negative for antinuclear antibodies, anticardiolipin antibodies, and antibodies to extractable nuclear antigens. Of note, the patient was not receiving any anticoagulation. Blood cultures for mycobacteria and fungi, human immunodeficiency virus serology, and urinalysis and culture were negative. The patient subsequently developed an inferior wall myocardial infarction and was transferred to the coronary care unit. In line with the family's request, aggressive care was ceased and the patient expired. The patient's family refused an autopsy.
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PMID:Cutaneous manifestations of marantic endocarditis. 1080 80

A 63-years-old woman noticed unsteady gait at the age of 56 years and then developed dysarthria two years later. A general physical examination at age 56 revealed mild hypertrophy of both Achilles tendons. On neurological examination, she had scanning speech, moderate limb and truncal ataxia, and moderate hyperreflexia of all limbs. A soft tissue X-ray examination disclosed hypertrophy of both Achilles tendons with multiple punctate calcification. Brain MRI showed diffuse cerebellar atrophy. Motor evoked potentials in the right limb disclosed a prolonged central conduction time. Blood chemistry showed familial type IIa hypercholesterolemia (cholesterol 320 mg/dl, and LDL-cholesterol 245 mg/dl), yet cholestanol level was normal. A examination of CTX gene mutation at hot spots revealed no mutation. Her mother and two siblings also had hypertrophy of Achilles tendons as well as type IIa hypercholesterolemia. In addition, the one sibling showed mild ataxia of lower limbs, respectively. This report suggests a possible link between familial type IIa hypercholesterolemia and cerebellar degeneration syndrome clinically mimicking CTX.
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PMID:[A case of familial type IIa hypercholesterolemia with the clinical features similar to cerebrotendinous xanthomatosis]. 1088 31

We sought to determine the clinical pictures, topography and pathogenesis of patients with unilateral single or multiple corona radiata infarcts. We defined corona radiata ischemic stroke if the patient had a focal neurological deficit and a relevant non-hemorrhagic infarction confined to the vascular territory of a long medullary artery proved by CT and MRI with contrast. We compared risk factors and clinical feature between subtypes of corona radiata infarcts. The study sample represents 1.2% of the patients (68/5500) with first-ever stroke in our Registry, including ischemic and hemorrhagic strokes. There were 37 patients (54%) with single infarct presenting 17 different complete or partial sensory-motor symptoms with dysarthria; 14 patients (21%) with unilateral multiple infarcts in one hemisphere had often complete sensorimotor deficits with some neuropsychological impairment; among 17 patients (25%) with multiple infarcts in both hemisphere, one half had bilateral motor and sensory symptoms, and neuropsychological deficits, visual field defects were uncommon. Seventeen patients (25%) had dysarthria, which was no localizing value. Hypertension was the most frequent vascular risk factor in 62% of patients, smoking in 28%, diabetes mellitus in 26%, hypercholesterolemia in 9%, and atrial fibrillation in 7%. The main cause of corona radiata infarcts was small-artery disease with long-standing hypertension in 40 patients (59%), large-artery disease in 19%, cardioembolism in 12%. Most of the patients (88%) had leukoaraiosis, and patients with bilateral multiple infarcts, leukoaraiosis was more frequent than in those with unilateral single infarct (P = .016; < .05). Despite clinical similarity to that found in superficial and deep infarcts, incomplete motor and sensory symptoms and MRI allows to delineate simultaneous uni- or multiple infarcts in the corona radiata. After an acute and immediate onset, outcome at 6 months of stroke onset is in general benign except those with bilateral infarcts. The coexistence of small-artery disease with leukoaraiosis suggest similar vascular risk factors and physiopathological mechanism.
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PMID:Spectrum of single and multiple corona radiata infarcts: clinical/MRI correlations. 1790 7

Antemortem diagnosis of isolated inner ear infarction remains a diagnostic challenge since current imaging techniques do not permit differentiation of isolated labyrinthine infarction from other more benign disorders involving the inner ear. An 81-year-old woman with diabetes, hypertension and hypercholesterolemia presented with vertigo and hearing loss. Initial examination revealed findings of left cochleovestibular labyrinthitis without brainstem or cerebellar signs. MRIs including the diffusion-weighted images were normal. Five days later, however, she developed dysarthria, and decreased facial sensation, subtle facial palsy, and dysmetria in the left side. Follow-up MRI was consistent with acute infarctions in the territory of anterior inferior cerebellar artery (AICA), involving the left lateral pons, left middle cerebellar peduncle, and inferolateral cerebellum. AICA infarction should be considered in acute audiovestibular syndrome, especially in aged patients with vascular risk factors, even though the classic brainstem or cerebellar signs are absent.
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PMID:Progression of acute cochleovestibulopathy into anterior inferior cerebellar artery infarction. 1910 52

Friedreich's ataxia (FRDA) is a rare autosomal recessive spinocerebellar ataxia which in the majority of cases is associated with a GAA-trinucleotide repeat expansion in the first intron of Frataxin gene located on chromosome 9. The clinical features include progressive gait and limb ataxia, cerebellar dysarthria, neuropathy, optic atrophy, and loss of vibration and proprioception. Ataxia with ocular motor apraxia type 1 (AOA1) is another autosomal recessive cerebellar ataxia which is associated with oculomotor apraxia, hypoalbuminaemia, and hypercholesterolemia. Here we describe two siblings (13- and 10-year-old) display overlapping clinical features of both early-onset FRDA and AOA1. Almost all of laboratory test (including urinary analysis/culture, biochemistry, peripheral blood smear, C-reactive protein level, erythrocyte sedimentation rate-1h) results were within the normal range for both patients. Due to the normal laboratory test results; we concluded that the diagnosis was more likely to be FRDA than AOA1. Therefore, neurologists should bear in mind that clinical presentations of FRDA may vary widely from the classical phenotype of gait and limb ataxia to atypical manifestations such as oculomotor apraxia.
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PMID:Early-Onset Friedreich's Ataxia With Oculomotor Apraxia. 2828 10