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)

Chronic salicylate intoxication represents an unappreciated form of self-poisoning in the elderly and therefore poses a diagnostic challenge. This report describes an elderly female with chronic salicylism who presented with unexplained delirium, dysarthria, diminished short-term memory and hearing, and urinary and fecal incontinence. She was treated with intravenous hydration, urinary alkalinization, and subsequent hemodialysis for persistent aciduria, acidemia and impending circulatory collapse. Major morbidity included myocardial infarction, life-threatening dysrhythmias, and mixed bacterial urosepsis. This report highlights the need to maintain a high index of suspicion for salicylate poisoning in the elderly, who commonly present with nonfocal neurologic features.
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PMID:Accidental chronic salicylate intoxication in an elderly patient: major morbidity despite early recognition. 843 48

We report a case of sporadic olivopontocerebellar atrophy (OPCA) with marked laterality of cerebellar atrophy and degenerative changes in the corticopontine tract. A 35-year-old man was admitted to our hospital for evaluation of titubation, gait disturbance, dysarthria, and urinary and fecal incontinence. Neurological examination showed a wide based gait, slurred speech, truncal ataxia, slightly saccadic ocular movement, and finger-to-nose incoordination, greater on the right than the left. Deep tendon reflexes were hyperactive and preserved with the right side greater than the left. Bilateral Babinski signs were present, and the patient had neurogenic bladder without orthostatic hypotension. Cranial MRI showed atrophy of the cerebellum with right dominance and of the pons. On T2- and PD-weighted images, high-intensity areas were detected at the left internal capsule, crus cerebri and ventral pons. These findings were compatible with the right dominance of the clinical symptoms. The high intensity area detected at the posterior internal capsule was more extensive than that seen in patients with motor neuron disease. This finding may coincide with the degenerative changes in the corticopontine tract. Moreover, 99mTc-HMPAO-SPECT showed the crossed cerebello-cerebral diaschisis (CCCD) pattern, which indicates the decreased CBF in the right cerebellar hemisphere and the left frontal lobe. These findings may reflect degenerative changes in the corticopontine tract in OPCA.
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PMID:[Neuroradiological findings of sporadic olivopontocerebellar atrophy with marked laterality and degenerative changes in the corticopontine tract]. 899 39

Leptomeningeal carcinomatosis (LMC) is a diffuse or multifocal malignant infiltration of the pia matter and arachnoid membrane. The most commonly reported cancers associated with LMC are breast, lung, and hematological malignancies. Patients with LMC commonly present with multifocal neurological symptoms. We report a case of LMC secondary to gastroesopha-geal junction cancer present initially with cauda equina syndrome. A 51-year-old male patient with treated adenocarcinoma of the gastroesophageal junction presented with left leg pain, mild weakness, and saddle area numbness. Initial radiological examinations were unremarkable. Subsequently, he had worsening of his leg weakness, fecal incontinence, and urine retention. Two days later, he developed rapidly progressive cranial neuropathies including facial diplegia, sensorineural hearing loss, dysarthria, and dysphagia. MRI with and without contrast showed diffuse enhancement of leptomeninges surrounding the brain, spinal cord, and cauda equina extending to the nerve roots. Cerebrospinal fluid cytology was positive for malignant cells. The patient died within 10 days from the second presentation. In cancer patients with cauda equina syndrome and absence of structural lesion on imaging, LMC should be considered. To our knowledge, this is the first case of LMC secondary to gastroesophageal cancer presenting with cauda equina syndrome.
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PMID:Cauda Equina Syndrome Secondary to Leptomeningeal Carcinomatosis of Gastroesophageal Junction Cancer. 2723 85

We describe the clinical history of a 49-year old woman, who demonstrated progressive personality changes more than twenty years after radiation of a pituitary adenoma (prolactinoma), with apathy, loss of initiative, memory deficits, postural instability, dysarthria and faecal incontinence. Neuropsychological assessment showed impulsivity, loss of overview, desinhibition, fluctuating deficits of attention, and memory disturbances. MRI-scanning of the brain revealed a cystic lesion along the right ventricle. The clinical picture and the findings of the other investigations are typical for dementia due to radiation encephalopathy. Such a long period between radiation and cognitive deterioration is rare, although it has been described before.
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PMID:Een zeldzame oorzaak van dementie: de bestralingsencephalopathie. 2739 86

Cerebral choline metabolism is crucial for normal brain function, and its homoeostasis depends on carrier-mediated transport. Here, we report on four individuals from three families with neurodegenerative disease and homozygous frameshift mutations (Asp517Metfs*19, Ser126Metfs*8, and Lys90Metfs*18) in the SLC44A1 gene encoding choline transporter-like protein 1. Clinical features included progressive ataxia, tremor, cognitive decline, dysphagia, optic atrophy, dysarthria, as well as urinary and bowel incontinence. Brain MRI demonstrated cerebellar atrophy and leukoencephalopathy. Moreover, low signal intensity in globus pallidus with hyperintensive streaking and low signal intensity in substantia nigra were seen in two individuals. The Asp517Metfs*19 and Ser126Metfs*8 fibroblasts were structurally and functionally indistinguishable. The most prominent ultrastructural changes of the mutant fibroblasts were reduced presence of free ribosomes, the appearance of elongated endoplasmic reticulum and strikingly increased number of mitochondria and small vesicles. When chronically treated with choline, those characteristics disappeared and mutant ultrastructure resembled healthy control cells. Functional analysis revealed diminished choline transport yet the membrane phosphatidylcholine content remained unchanged. As part of the mechanism to preserve choline and phosphatidylcholine, choline transporter deficiency was implicated in impaired membrane homeostasis of other phospholipids. Choline treatments could restore the membrane lipids, repair cellular organelles and protect mutant cells from acute iron overload. In conclusion, we describe a novel childhood-onset neurometabolic disease caused by choline transporter deficiency with autosomal recessive inheritance.
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PMID:Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration. 3233 75

A professional 55-year-old female experienced diver, who surfaced after the second dive, had a lucid interval before dropping Glasgow Coma Scale (GCS) to 3/15. She was admitted to intensive care unit and commenced on hyperbaric oxygen therapy. Her initial computed tomography of the head was normal but her magnetic resonance imaging of the brain at 48 hours showed extensive bilateral cortical watershed territory infarcts. She developed acute respiratory distress syndrome which resolved within a few days. Her GCS gradually improved from 3/15 to 6/15, was repatriated to United Kingdom after about 2 weeks of the insult and admitted to a tertiary care hospital where she had myoclonic seizures and was started on anti-epileptics. Then she was transferred to the Rehabilitation Medicine Ward of Leicester General Hospital, with GCS 14/15 with poor sitting balance, for her management and rehabilitation. She had weakness of right upper and lower limbs, dysarthria, neuropathic bilateral shoulder pains, pressure ulcer of left heel, bladder and bowel incontinence and cognitive issues. She improved to have significant neurological recovery within next 3 months, became ambulant independently and bladder and bowel continent. Her Barthel index (from 4 to 17), Montreal Cognitive Assessment Test, Adembrook Cognitive Examination and Berg Balance scale (from 33/56 to 44/56) improved significantly. Early diagnosis, treatment and rehabilitation can have a significant impact on the recovery of decompression illness.
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PMID:Decompression illness type II with stroke: challenging situation in acute neurorehabilitation. 3260 54