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 describe a 58-year-old patient with a rare predominantly venous vascular malformation of the medulla oblongata, which caused a progressive bulbar dysfunction consisting of hiccoughs, dysphagia, hoarseness, dysarthria, gait ataxia and dysuria over a period of 11 months. On autopsy, a large dilated vein with focal marked intimal fibroelastic thickening was present on the ventral surface of the medulla. Microscopically, moderate proliferation of capillaries and veins was observed which was confined primarily to the medulla. The veins displayed abnormal dilatation and tortuosity; prominent thickening of vessel walls was also present in the veins and capillaries. The venous abnormalities were prominent in the parenchyma of the medulla, but much less apparent in its subarachnoid space. Multifocal neuronal loss and gliosis were observed, most prominently in the inferior olives, hypoglossal, dorsal vagal and ambiguus nuclei. The histopathologic findings suggested that abnormal venous drainage within the parenchyma of the medulla was the most critical factor for the pathogenesis of this patient's neurologic symptomatology.
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PMID:Progressive bulbar dysfunction caused by a predominantly venous vascular malformation of the medulla oblongata. 161 26

A 59-year-old male visited us with a chief complaint of dysuria. The serum prostate specific antigen (PSA) level was within normal limits, and intravenous pyelography and urethrocystography showed no abnormal findings. Because of his urinary retention, transurethral resection of prostate was performed under a clinical diagnosis of benign prostatic hyperplasia. The pathological diagnosis was poorly differentiated adenocarcinoma of the prostate. Not only combination hormone therapy with goserelin acetate and flutamide, but also intermittent arterial infusion chemotherapy with cisplatin (CDDP) and pirarubicin (THP) using a reservoir system was administered. Additionally total pelvic irradiation was delivered. Magnetic resonance imaging (MRI) demonstrated that his prostate was reduced to less than 50% in size and he had no difficulty in voiding. He suddenly developed dysarthria and hemiplegia 3 months later. MRI and computed tomography (CT) revealed multiple brain metastases. After the gamma knife radiosurgery, neurological findings disappeared and MRI showed dramatic shrinkage of metastatic brain tumors. Metastasis to the pancreas was recognized on CT and he died of multiple organ failure 30 months after his first visit.
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PMID:[Complete remission of brain metastases from prostate cancer by gamma knife radiosurgery: a case report]. 1143 55

We report a 66-year-old woman who developed mental deterioration in her school days, and progressive gait disturbance, dysarthria and bradykinesia in her 40 s. Her parents were consanguineous, and the two of her brothers were suspected to have the allied disorder. On physical examination, she was short-statured and high-arched palate was observed. Neurological examination revealed dementia, abnormal eye movement, dysarthria, spastic paraparesis with hyperreflexia, bilateral Babinski signs, cerebellar ataxia and dysuria. Brain MRI showed marked hypoplasia of corpus callosum with dilatation of lateral ventricles and cerebral sulci and significant cerebellar atrophy. Amino acid analyses showed significant elevation of glycine without ketosis in serum, cerebrospinal fluid, and urine, which lead us to the diagnosis of late-onset nonketotic hyperglycinemia(NKH). NKH is known to be a rare autosomal recessive metabolic disorder primarily caused by deficient activity of various components of the mitochondrial glycine cleavage system. Onset of the disease occurs most often in early infancy, however, later-onset variants have been described. Usually, late-onset NKH only manifests mild mental deterioration, character change, seizure, ataxia or spastic paraparesis, which sometimes makes difficulty in differentiating this disease from other hereditary cerebellar ataxia or spastic paraparesis. In addition, many structural brain abnormalities have been reported accompanied with NKH, and especially, agenesis or hypoplasia of corpus callosum is the most characteristic feature in this disease. Therefore, we emphasized that amino acid analyses should be considered in any patients who have cerebellar ataxia or spastic paraparesis of unknown cause with these neuroradiological findings.
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PMID:[Late-onset nonketotic hyperglycinemia: a case report]. 1259 24