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)

Fabry's disease (FD) is a rare, sex-linked disorder resulting from alpha-galactosidase deficiency. Cerebrovascular complications have been reported in the literature but have not been systematically analyzed. We report 2 patients and review 51 previously reported cases (descriptive meta-analysis) to clarify the clinical, radiologic, and pathologic features. The average age at onset of cerebrovascular symptoms was 33.8 years for hemizygous individuals (n = 43) and 40.3 years of heterozygotes (n = 10). The most frequent symptoms and signs were as follows (in descending order of frequency): hemiparesis, vertigo/dizziness, diplopia, dysarthria, nystagmus, nausea/vomiting, head pain, hemiataxia, and ataxia of gait, in the hemizygote group; and memory loss, dizziness, ataxia, hemiparesis, loss of consciousness and hemisensory symptoms, in the heterozygote group. The vertebrobasilar circulation was symptomatic in 67% of the hemizygotes and 60% of the heterozygotes. Intracerebral hemorrhage was found in 4 patients (3 hemizygotes and 1 heterozygote). Elongated, ectatic, tortuous vertebral and basilar arteries were the most common angiographic and pathologic features. For the hemizygotes, the recurrence rate for cerebrovascular disease was 76% and the death rate was 55%; 86% of the heterozygotes had recurrent cerebrovascular event(s) and 40% died. The cerebrovascular manifestations of FD, in both hemizygotes and heterozygotes, are predominantly due to dilative arteriopathy of the vertebrobasilar circulation, frequently recur, and portend a poor prognosis.
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PMID:Cerebrovascular complications of Fabry's disease. 868 96

Two siblings (one man, one woman), presenting with diarrhea, severe weight loss peripheral neuropathy, ophthalmoparesis, asymptomatic leukoencephalopathy were diagnosed as a new cases of Mitochondrial Neuro Gastro Intestinal Encephalomyopathy syndrome (MNGIE). Hirano (1994) defined four criteria for the diagnostic: peripheral neuropathy, ophthalmoparesis, gastro intestinal dysmotility, muscle biopsy with histologic features of mitochondrial myopathy (ragged-red fibers, muscle fibers with increased succinate deshydrogenase stain or ultra structurally abnormal mitochondria). In a review of the literature, we found 31 cases with MNGIE. With our two cases, we study this group of 33 patients. First symptoms begin about 13.5 years with a median of 10 years and extremes for 1 to 32 years. The first signs are gastro intestinal symptoms (recurrent nausea, vomiting or diarrhea with intestinal dysmotility) in 22 cases, an ophthalmoparesia in 4 cases, intestinal and ocular signs in 1 case, gait ataxia or peripheral neuropathy in 3 cases, hearing loss in 1 case, gait ataxia or peripheral neuropathy in 3 cases, hearing loss in 1 case. During the evolution, besides the cardinal signs, the following features have been observed with a variable frequency: hearing loss, short stature, facial palsy, dysphonia, dysarthria, sweating, orthostatic hypotension, bladder dysfunction, hepatomegalia, The laboratory features are: abnormal Nerve Condition Studies/EMG compatible with a sensory motor neuropathy, lactic acidosis, mitochondrial respiratory chain defect (essentially complex IV deficiency, complex I deficiency or multiple complex defect), MRI leukodystrophy, elevated CSF protein, heart block, ragged-red fibers or increased SDH stain. The prognosis is poor, due to a severe weight loss bordering on cachexia 13 patients died with a mean age of 28.5 years (median 24 years, extreme 3 years to 51 years). The prognosis seems to be worsened by a young age of onset. The 33 patients belong to 19 families with 7 cases of consanguinity. 25 patients had a brother, a sister or a cousin affected. The study of these families is compatible with an autosomic recessive transmission, suggesting a pathology of the nuclear genomi, probably impliying the control of the mitochondrial DNA replication. In fact, in 13 cases, a study of the mt DNA was realized: multiple deletions were founded in 6 cases, multiples mutations in one case, unique mutation in 1 case. In 5 cases ther was no evidence of abnormality. These precise etiology and pathophysiologic significance of the mt DNA deletions, and the heterogeneity of the modifications of the mt DNA remain unknown. However, the possibility of various phenotypes for a same genotype or inversely is known in mitochondriopathies.
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PMID:[MNGIE syndrome in 2 siblings]. 968 18

A 38-year-old homosexual male with AIDS suffered four neurological episodes including headaches, confusion, visual impairment, memory disturbances, and dysarthria which resolved spontaneously in a few days. He was admitted to hospital during a fifth episode. Neurological examination revealed a cerebellar syndrome. General examination was normal. CD4 count was 90. CSF contained two WBCs/mm(3) and 12.30 mg/dL protein. MRI revealed diffuse ill defined increased signal on T2-weighted images in the white matter. His condition worsened rapidly with vomiting and he died 1 month after admission. Neuropathological examination revealed diffuse brain oedema with ventricular compression, central diencephalic herniation and bilateral tonsilar herniation in the absence of a focal lesion. Microscopical examination revealed predominant involvement of the white matter with diffuse myelin pallor and massive perivascular dilatation containing an exudate expressing serum proteins and occasional macrophages. The same exudate was also diffuse in the leptomeninges. Parenchymal damage predominated around the perivascular spaces and included loosening of tissue, axonal damage with spheroids and reactive astrocytosis. There was no evidence of productive HIV encephalitis, no multinucleated giant cells; p24 immunostaining and RT-PCR for HIV genome were negative. There was neither significant inflammation nor microglial activation. In this illustrative case, the relapsing course of the neurological signs, the diffuse topography of the blood-brain barrier breakdown and the absence of local cause make it likely that the diffuse leak and axonal damage could be related to circulating factors.
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PMID:Acute, relapsing brain oedema with diffuse blood-brain barrier alteration and axonal damage in the acquired immunodeficiency syndrome. 971 86

Unilateral cerebellar infarcts in the territory of the superior cerebellar artery (SCA) have been studied in recent years to delineate the clinical presentation and stroke mechanism, but most studies excluded bilateral infarctions. We have studied patients with bilateral SCA infarctions to provide data on clinical findings, stroke distribution and outcome. We collected data of 8 patients with bilateral SCA infarctions recognized by computed tomography and/or magnetic resonance imaging. The most common clinical presentation of patients with bilateral SCA infarctions were nausea, vomiting or vertigo (6 patients), often associated with ataxia and dysarthria (5 patients). Further symptoms were variable and depended on additional infarcts in other vascular territories. Infarcts were often partial or scattered with equal distribution between the medial and lateral branches of the SCA. Complete infarction within the SCA area occurred in less than half of the cases. Clinical outcome was either benign (full recovery in 3 patients) or fatal (5 patients). Predictors for a good clinical recovery were young age, few vascular risk factors, only partial involvement of the SCA territory without involvement of other vascular territories, and absent limb weakness on clinical presentation.
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PMID:Presentation and prognosis of bilateral infarcts in the territory of the superior cerebellar artery. 1054 90

We report on a 35 year old female with a 26 day history of an intermittent cerebellar syndrome (dysarthria, ataxia of extremities, gait and trunk, nystagmus), mild meningism, cephalgia, recurrent emesis and nausea. Symptoms developed after typically chickenpox exanthema. Examination of the liquor showed mild pleocytosis, elevated protein and increased albumin quotient. Virus was not found by EIA or PCR. There were elevated levels of IgM- and IgG-antibodies to VZV. The EEG showed mild general changes, compatible with an encephalitis. Neuroradiological examinations were unremarkful. The neurological deficits partly regressed in the follow-up of two months. To the best of our knowledge we are the first that describe the paradox of an intermittent cerebellar syndrome after infection with chickenpox without detection of the virus in the liquor. This phenomenon can be related to the unusual combination of cerebellar ataxia and the later occurrence of mild encephalitis.
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PMID:[Cerebellar syndrome after varicella infection without virus identification in cerebrospinal fluid--an important differential ataxia diagnosis]. 1059 44

We report a case of sudden bilateral hearing loss associated with an occlusion of the right vertebral artery. A 66-year-old man was admitted to hospital suffering from sudden onset vertigo, deafness, and vomiting. He could not walk due to truncal ataxia. There was positional nystagmus to the right; spontaneous and gaze-evoked nystagmus were absent. He had no facial nerve palsy, dysarthria, pyramidal tract signs, limb ataxia, and sensory impairment. Pure tone audiometry demonstrated a profound sensorineural deafness of both ears. A tentative diagnosis of sudden deafness was made. He was treated with intravenous infusion of corticosteroid; hearing loss of the left ear slightly improved. Cranial MR imaging demonstrated fresh small infarcts in the right cerebellar tonsil, the left cerebellar medulla, and the left middle cerebellar peduncle. MR angiography demonstrated an occlusion of the right vertebral artery. It is possible that reduced perfusion of the anterior inferior cerebellar arteries and internal auditory arteries on both sides resulted in multiple "border zone" infarcts and damage to the inner ear. Clinicians should be aware of the possibility of vertebrobasilar occlusive disease in case of sudden bilateral hearing impairment, even when brainstem or cerebellar signs are absent.
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PMID:[Sudden bilateral hearing loss with vertigo due to vertebral artery occlusion]. 1121 9

We present a clinicopathological report of a recent fatal case of a 27-year-old woman whom we consider to have had encephalitis lethargica. Clinical features of note were a presentation with vertigo, persistent vomiting and sleep disturbance including marked daytime somnolence and vivid nightmares. On examination, she had impaired slow pursuit vertical eye movements, dysarthria, an expressionless face and slow tongue movements. She went on to develop gross supranuclear gaze palsy, neck rigidity, bradykinesia, blepharospasm, profound somnolence and anarthria but no tremor, weakness or impairment of cognition. She died after an illness lasting 12 months. On investigation, the cerebrospinal fluid was found to contain a very high level of IgG with oligoclonal bands but no cells. Post-mortem examination revealed an active encephalitis, mainly centered on the upper brainstem and diencephalon with extensive Purkinje cell loss and marked plasma cell infiltrates and morula cells. No virus was recovered.
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PMID:A contemporary case of encephalitis lethargica. 1122 Jun 91

Recurrent episodes of abdominal pain are common in childhood. Among the diagnostic possibilities are migraine and abdominal epilepsy (AE). AE is an infrequent syndrome with paroxystic episodes of abdominal pain, awareness disturbance, EEG abnormalities and positive results with the introduction of antiepileptic drugs. We present one 6 year-old girl who had short episodes of abdominal pain since the age of 4. The pain was followed by cry, fear and occasionally secondary generalization. MRI showed tumor in the left temporal region. As a differential diagnosis, we report a 10 year-old boy who had long episodes of abdominal pain accompanied by blurring of vision, vertigo, gait ataxia, dysarthria, acroparesthesias and vomiting. He received the diagnosis of basilar migraine. In our opinion, AE is part of a large group (partial epilepsies) and does not require a special classification. Pediatric neurologists must be aware of these two entities that may cause abdominal pain.
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PMID:Recurrent abdominal pain: when should an epileptic seizure be suspected? 1224 4

A 52-year-old woman was in a confused state and had difficulty walking and swallowing, as well as dysarthria. That same day she had consumed some berries, which she thought were bilberries, but she had instead eaten Atropa belladonna (deadly nightshade). She made a spontaneous and full recovery within a few days. A 3-year-old boy, with amblyopia, was vomiting, had difficulty walking and had a temperature of 39 degrees C. He was agitated and had a warm, red skin and dilated pupils that did not respond to light. A suspected intoxication with a parasympathicolytic agent was confirmed upon an empty bottle of atropine eye drops being found at his home. The boy made a full recovery following treatment with physostigmine. It is important to consider an anticholinergenic intoxication in the case of patients who are confused, have difficulty speaking, large fixed pupils and fever. A specific anamnesis with respect to medicines, eye drops and berries or plants consumed can confirm the diagnosis. It is important to recognise an anticholinergic intoxication because without treatment, the outcome can be fatal.
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PMID:[Fever, large eyes and confusion; the anticholinergic syndrome]. 1281 26

Delayed traumatic intracranial hemorrhage (DTICH) is seen mostly in trauma to the occipitoparietal region by countercoup mechanism. It is most encountered within the first posttraumatic 10 days, particularly in the first 3. Herein, two cases of delayed traumatic intracerebral hemorrhage were discussed, first one presented with headache and vomiting who had been asymptomatic for 168 days after head trauma and the other presented with dysarthria and hyperkynesias after 92 days of asymptomatic interval, either being longer than that of the previous cases reported in the literature. Despite a long time elapse, DTICH should be considered in the differential diagnosis in the patients with history of head trauma that manifests at later stages with intracranial pressure elevation symptoms such as headache, vomiting.
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PMID:Asymptomatic interval in delayed traumatic intracerebral hemorrhage: report of two cases. 1286 May 5


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