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)

We report on a 36 years-old man that had been at the Amazon forest four years before. Six months before the admission he had developed a progressive quadriparesis, gait ataxia, dysphagia, dysarthria, difficulty in breathing and hiccup. The gadolinium-enhanced T1-weighted MRI showed a lesion into the right parietoccipital area and another into the medulla, that was the largest. There was any evidence of tuberculosis or AIDS. The patient was submitted to microsurgical approach to the medulla. Pathological examination revealed paracoccidioidomycosis. Treatment with anphotericin B till 2100 mg was administered followed by sulfamethoxazole-trimetoprim for three months plus physical therapy. The patient went back to his activities six months after the end of the treatment. Comments are presented about the participation of the immunological system and of the cytokines (interleukines).
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PMID:[Paracoccidioidomycosis in cerebral hemisphere and brainstem: case report]. 1711 20

The clinical presentation of basilar artery occlusion (BAO) ranges from mild transient symptoms to devastating strokes with high fatality and morbidity. Often, non-specific prodromal symptoms such as vertigo or headaches are indicative of BAO, and are followed by the hallmarks of BAO, including decreased consciousness, quadriparesis, pupillary and oculomotor abnormalities, dysarthria, and dysphagia. When clinical findings suggest an acute brainstem disorder, BAO has to be confirmed or ruled out as a matter of urgency. If BAO is recognised early and confirmed with multimodal CT or MRI, intravenous thrombolysis or endovascular treatment can be undertaken. The goal of thrombolysis is to restore blood flow in the occluded artery and salvage brain tissue; however, the best treatment approach to improve clinical outcome still needs to be ascertained.
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PMID:Basilar artery occlusion. 2201 35

Japanese encephalitis, an inflammatory brain disease prevalent in Southeast Asia, usually presented with fever, headache, convulsions, brain stem signs with pyramidal and extrapyramidal features, and altered sensorium. Acute transverse myelitis, as the initial manifestation of Japanese encephalitis, is an unusual manifestation and is seldom reported. We hereby report a case of 13-year-old adolescent boy who presented to us with fever and acute onset paraparesis with urinary retention initially, progressing to quadriparesis and then followed by headache and altered sensorium. Brain MRI revealed bilateral basal ganglia that were grossly swollen with vasogenic edema tracking along internal capsule and midbrain. Adjacent ventrolateral thalamus and internal capsule also showed mild abnormal intensities. Spinal screening showed abnormal cord intensities in entire cord with gross edema in cervical and conus regions. He had elevated IgM titres against JE virus in cerebrospinal fluid. The patient was treated conservatively along with intravenous methyl prednisolone for 5 days. He regained near normal power at 3 months in followup, but hesitancy, dysarthria, and slowness of movement still persisted. To conclude, a young boy presenting with ATM in an endemic region of JE, then a possibility of Japanese encephalitis, should be sought by clinicians as early use of immunomodulator shows survival benefit.
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PMID:Acute transverse myelitis (ascending myelitis) as the initial manifestation of Japanese encephalitis: a rare presentation. 2358 73

Machado-Joseph disease (MJD) has been described in Africans, but no cases have been reported from Nigeria. Current MJD global distribution results from both the ancestral populations-of-origin and the founder effects of mutations, some as a consequence of the Portuguese sea travels in the 15th to 16th century. Two main ancestral haplotypes have been identified: the Machado lineage, which is more recent, predominant in families of Portuguese extraction, and the Joseph lineage, which is much older and worldwide spread, postulated to have an Asian origin. We report a Nigerian family with MJD from Calabar, once settled by Portuguese slave traders, and assessed its mutational origin. The proband was a 33-year-old man with progressive unsteady gait, weakness of all limbs, dysphagia, dysarthria, urinary frequency and diaphoresis. He had end-of-gaze nystagmus, spastic quadriparesis and atrophic small muscles of the hand. He showed fibrillation potentials on EMG, and nerve conduction studies suggested a central axonopathy without demyelination. This family bears the Joseph haplotype, which has a founder effect in the island of Flores, in the Azores (and their descendants in North-America), but is also the most common in non-Portuguese populations worldwide, with an estimated mutation age of around 7000 years.
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PMID:Machado-Joseph disease in a Nigerian family: mutational origin and review of the literature. 2478 59

Co-morbid auto-immune disorders may affect 0.2% of the population. We present the clinical and electrodiagnostic findings of 2 patients with inflammatory bowel disease and myasthenia gravis from a Brazilian cohort of 218 inflammatory bowel disease patients. Patient 1: A 40year-old man was diagnosed with ulcerative colitis at age 37 and underwent total colectomy 3years later. After prednisone was tapered, he experienced a clinical relapse and was diagnosed with Crohn's disease. He then developed quadriparesis, bilateral ptosis, dysphagia and dysarthria. Patient 2: A 41year-old woman (diagnosed with ulcerative colitis and primary sclerosing cholangitis at age 35) developed speech impairment and ptosis. On both patients, symptoms quickly progressed over few weeks. Myasthenia gravis was diagnosed and confirmed by abnormal repetitive nerve stimulation and elevated anti-acetylcholine receptor antibody titers. Pyridostigmine and prednisone successfully treated both patients. Myasthenia gravis prevalence over 9years was 0.9%. Myasthenia gravis clinical course was not significantly modified by inflammatory bowel disease relapses and should be suspected with new onset weakness.
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PMID:Two patients with co-morbid myasthenia gravis in a Brazilian cohort of inflammatory bowel disease. 2506 84

Tumefactive multiple sclerosis (MS) is an aggressive form of MS that can be difficult to treat with standard therapies. In severe MS relapses, plasma exchange (PLEX) has shown some benefit, but reports of its use in patients with tumefactive MS are limited. This article describes the successful use of PLEX in a patient with tumefactive MS. A 46-year-old right-handed woman with a recent diagnosis of MS presented with drowsiness, dysarthria, horizontal nystagmus, and quadriparesis. Her brain magnetic resonance images demonstrated multiple tumefactive demyelinating lesions in the medulla, bilateral periventricular white matter, and corona radiata white matter. She was initially treated with a 10-day course of intravenous methylprednisolone without benefit; therefore, PLEX was initiated. After the second exchange, the patient started to improve and was discharged initially to rehabilitation and then home. She was started on disease-modifying therapy with natalizumab and did not experience further relapses but had slow clinical decline during the next year, which led to discontinuation of natalizumab treatment. PLEX may be used as second-line treatment in corticosteroid-resistant MS relapses, but there are limited reports of its use in patients with tumefactive MS. This patient presented with aggressive disease with multiple tumefactive lesions and did not respond to standard treatment with corticosteroids. PLEX was successful in improving her symptoms, allowing her to return home, although the disease progressed during the next year.
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PMID:Plasma Exchange in a Patient with Tumefactive, Corticosteroid-Resistant Multiple Sclerosis. 2647 44

Non-syndromic, multi-organ mitochondrial disorders (MIDs) are frequently missed if treating physicians are not aware of them. We report a 85 years old Caucasian male, referred for tonic-clonic seizures, presenting with a plethora of abnormalities, including neurodermitis, atopic dermatitis, diabetes, hypertension, renal insufficiency, non-specific colitis, urine bladder lithiasis, bilateral cataracts, atrial fibrillation, diverticulosis, polyneuropathy, vitamin-D-deficiency, renal cysts, left anterior hemi-block, right bundle branch block, pulmonary artery hypertension, and heart failure. Neurological investigations revealed ptosis, quadriparesis, fasciculations, dysarthria, dysdiadochokinesia, tremor, hyperkinesia, ataxia, leukoencephalopathy, and basal ganglia calcification. Based upon this combination of abnormalities a non-syndromic mitochondrial multi-organ disorder syndrome (MIMODS, encephalo-myo-cardiomyopathy) was diagnosed.
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PMID:Multiorgan disorder syndrome (MODS) in an octagenarian suggests mitochondrial disorder. 2653 Feb 6

Patients with pontine hemorrhage usually experience severe disturbances of consciousness, pupillary abnormalities, quadriparesis, and respiratory failure. However, little is known regarding cognitive dysfunction in patients with pontine hemorrhage. We report the case of a rehabilitation patient presenting with hemiplegia, ataxia, and cognitive dysfunction caused by a pontine hemorrhage. A 55-year-old, right-handed male suffered sudden onset of vertigo, dysarthria, and hemiplegia on the right side. He was diagnosed with brain stem hemorrhage, and conservative treatment was administered. The vertigo improved, but dysarthria, ataxia, hemiplegia, and gait disorder persisted. He was disoriented with respect to time and place and showed a poor attention span, impaired executive function, and reduced volition. A computed tomography revealed hematomas across the pons on both sides, but no lesions were obvious in the cerebellum and cerebrum. Single-photon emission tomography showed decreased perfusion in the brain stem, bilateral basal ganglia, and frontal and parietal lobes in the left hemisphere. The patient received exercise therapy and cognitive rehabilitation, and home modifications were performed to allow him to continue living at home under the supervision of his family. His symptoms improved, along with enhanced regional cerebral blood flow to the frontal and temporal lobes. These findings suggest that the pontine hemorrhage caused diaschisis resulting in secondary reduction of activity in the cerebral hemisphere and the occurrence of cortical symptoms. Therefore, rehabilitation is necessary, along with active instructions for the family members of patients with severe neurological deficits.
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PMID:Rehabilitation for a Patient with Hemiplegia, Ataxia, and Cognitive Dysfunction Caused by Pontine Hemorrhage. 2660 Jul 85

Central pontine myelinolysis (CPM) is an acute demyelinating neurological disorder affecting primarily the central pons and is frequently associated with rapid correction of hyponatremia. Common clinical manifestations of CPM include spastic quadriparesis, dysarthria, pseudobulbar palsy, and encephalopathy of various degrees; however, coma, "locked-in" syndrome, or death can occur in most severe cases. Rarely, CPM presents with neuropsychiatric manifestations, such as personality changes, acute psychosis, paranoia, hallucinations, or catatonia, typically associated with additional injury to the brain, described as extrapontine myelinolysis (EPM). We present a patient with primarily neuropsychiatric manifestations of CPM, in the absence of focal neurologic deficits or radiographic extrapontine involvement. A 51-year-old female without significant medical history presented with dizziness, frequent falls, diarrhea, generalized weakness, and weight loss. Physical examination showed no focal neurological deficits. Laboratory data showed severe hyponatremia, which was corrected rather rapidly. Subsequently, the patient developed symptoms of an acute psychotic illness. Initial brain magnetic resonance imaging (MRI) was unremarkable, although a repeat MRI two weeks later revealed changes compatible with CPM. This case demonstrates that acute psychosis might represent the main manifestation of CPM, especially in early stages of the disease, which should be taken into consideration when assessing patients with acute abnormalities of sodium metabolism.
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PMID:Acute Psychosis as Main Manifestation of Central Pontine Myelinolysis. 2839 53

Central pontine myelinolysis (CPM) is a demyelinating disorder of central nervous system which involves central portion of the pons and sometimes extrapontine areas also. It is commonly reported in settings of hyponatraemia or its rapid correction, but in the last few years it has also been reported in patients with diabetes in the absence of electrolyte disturbances or correction of serum osmolality. Here we report a case of a 20-year-old female patient, with a known history of type 1 diabetes mellitus, who presented with acute onset spastic quadriparesis with dysarthria and mild ataxia which evolved over 2 weeks. Her MRI brain showed well-defined, bilateral symmetric hyperintense lesion involving central pons showing area of diffusion restriction which was consistent with CPM. Patient was treated conservatively and improved over a period of few weeks. To diagnose more number of cases, we should not overlook CPM in patients with diabetes.
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PMID:Osmotic demyelination syndrome in type 1 diabetes in the absence of dyselectrolytaemia: an overlooked complication? 2850 Feb 61


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