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)

The case of an 11-year-old female with the clinical findings of Hallervorden-Spatz syndrome, including progressive dystonia, dysarthria, disturbances of gait, and retinal pigmentary degeneration, is presented. The differential diagnosis of childhood dystonia and retinal pigmentary degeneration associated with neurological conditions is discussed. The presence of basal ganglia densities on computed tomography scanning in this patient may aid in future premortem diagnosis of this rare disease.
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PMID:New computed tomography scan finding in Hallervorden-Spatz syndrome. 294 75

Aneurysm of the vein of Galen is a very rare disease. The authors present a case of secondary aneurysm of the vein of Galen which was confirmed by characteristic clinical symptoms, brain CT and angiographic findings. The patient was a 14-year-old right handed girl with intermittent headache, nausea, vomiting, dysphasia and gait disturbance. Neurologic examination revealed dysarthria, nasal voice, blurring of both margins of optic discs, truncal ataxia and dysdiadochokinesia. Sensory function was normal but right hemiparesis was seen. Roentgenogram of the skull revealed diffuse thinning of the calvarium, widening of sella turcica and erosion of clinoid processes. Computed tomogram of the brain showed dilatation of all ventricles and round hyperdense mass behind the third ventricle in the midline. The lesion was enhanced markedly and homogeneously. Left and right internal carotid angiograms showed arteriovenousmal-formation with drainage to the aneurysm of the vein of Galen.
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PMID:A case of aneurysm of the vein of Galen. 327 Oct 52

An autopsy case of hereditary spastic ataxia is reported. There are four family members with similar symptomatology through three generations. A 36-year-old man developed atactic gait at the age of 22 years, with following dysarthria, scanning speech, pyramidal signs, dysmetria, dysdiadochokinesia, nystagmus and mild sensory disturbance. The clinical course was steadily progressive and terminated about 14 years after the onset. The gross examination showed smallness of the brain stem and spinal cord with marked symmetrical atrophy of the anterior and lateral columns, especially at thoracic level. Histologically, pronounced degeneration was found in the anterior and posterior spino-cerebellar tracts, spino-thalamic tracts, and spinal ganglia. The olivary nuclei, pons and cerebellum were spared. The dentate nuclei showed considerable loss of neurons with degeneration, however there were no clinical signs related to this pathology. This case is considered to fall in the group of hereditary spastic ataxia according to Greenfield's classification, however, there was no report on degeneration of the dentate nucleus in this disease for the present. Hereditary spastic ataxia is very rare disease and only four cases have well been documented in our country to the best of our knowledge. The presence of nystagmus and superficial sensory disturbance, and sparing of the posterior column of the spinal cord seems to be common clinico-pathology in Japanese cases, differing from those of foreign cases. The fact that reactive astrogliosis was immunohistochemistry demonstrated in the degenerative regions of the spinal cord and where is no discrepancy between degenerative and reparative processes as reported before is stressed.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[An autopsy case of hereditary ataxia (hereditary spastic ataxia)]. 404 Dec 92

In a 21-year-old woman with a smaller and sloppy handwriting, drooling especially when stooping, sporadic choking, clumsiness, and frequent stumbling, Wilson's disease was diagnosed. The medical history disclosed a short period of haemolytic anaemia with transient hepatic failure, and irregular menstruation periods with infertility. On examination there were no signs of liver or spleen enlargement. She was slow, had an expressionless face and mild dysarthria, and slight impairment of the coordination of the limbs. Magnetic resonance imaging of the brain showed bilateral hyperintensive lesions of the basal ganglia on T2W images. Zinc therapy induced a good biochemical response and there was also some clinical improvement. Linkage analysis within the family identified one other asymptomatic homozygotically affected sister. A diagnostic delay occurs frequently due to relative unfamiliarity with this rare disease and due to its variable clinical expression.
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PMID:[Wilson's disease; diagnosis with the aid of magnetic resonance tomography]. 772 83

Superficial hemosiderosis (SH) of the CNS is a rare disease caused by repeated subarachnoid hemorrhage, with progressive superficial siderosis of the CNS. We report a patient with SH whose clinical picture was marked by progressive gait ataxia, hearing loss, dysarthria, and recurrent episodes of hemifacial spasm. Iron and ferritin levels in the CSF were significantly higher than in a control group of patients. Six month's treatment with the iron-chelating agent trientine dihydrochloride led to clinical improvement, with a concomitant reduction of CSF iron level. We suggest that, in addition to magnetic resonance imaging findings, CSF levels of iron and ferritin should be used as diagnostic criteria for SH, as well as to estimate the efficacy of iron chelation treatment.
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PMID:Superficial hemosiderosis of the central nervous system. 855 30

Central alveolar hypoventilation syndrome (CAH), or Ondine's curse, is a very rare disease characterized by dysfunction of respiratory center in the brain stem. Here, we report a case of CAH associated with cerebral infarction. A 59-year-old man developed right facial sensory deficit at age 56. Then, the facial sensory deficit spread to the left side and dysarthria and dysphagia also developed. Since age 58, he often developed respiratory failure and consciousness disturbance. Arterial blood gas analysis revealed alveolar hypoventilation and respiratory acidosis. Disorders of peripheral organs such as lung, airway, thorax and neuromuscular diseases were ruled out. Brain MRI showed cerebral infarction in the brain stem. We diagnosed him as CAH associated with brain stem infarction.
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PMID:[A case of central alveolar hypoventilation syndrome associated with cerebral infarction]. 832 22

Primary leptomeningeal lymphoma (PLML) is a rare disease. The most common presentation is symptoms of increased intracranial pressure. Confusion, dysarthria, hearing loss, paraparesis and lumbosacral spinal root symptoms have also been reported. Chemotherapy and radiotherapy have been tried, but its prognosis is usually poor. We experienced a case of PLML with a relatively benign course in an 18-year-old girl. Initial diagnosis was made as idiopathic intracranial hypertension. Lumbosacral shunt was done with good response for 3 years. When headache recurred, she was reevaluated and was correctly diagnosed as PLML.
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PMID:Primary leptomeningeal lymphoma with long-term survival: a case report. 1102 96

Neuroferritinopathy is a recently recognised genetic disease resulting in a dominantly inherited movement disorder. The condition was mapped by linkage analysis to chromosome 19q13.3 and found to be due to a single adenine insertion in the ferritin light chain (FTL) gene at position 460-461 which is predicted to alter the C terminus of the FTL polypeptide. Clinical features of neuroferritinopathy are highly variable, with chorea, dystonia, and Parkinsonian features predominating in different affected individuals. The most consistent feature is a dystonic dysarthria. Symptoms and abnormal physical signs appear to be restricted to the nervous system and onset is typically in the fourth to sixth decades. Low serum ferritin also characterises this condition. Brain MR imaging of affected patients demonstrates iron deposition in the basal ganglia, progressing over years to cystic degeneration, and brain histochemistry shows abnormal aggregates of ferritin and iron. Now that the molecular basis of the condition is known, therapeutic interventions to reduce or reverse brain iron deposition are being evaluated. This rare disease provides evidence of a central role for iron metabolism in neurodegenerative disorders.
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PMID:Neuroferritinopathy: a window on the role of iron in neurodegeneration. 1254 46

Hallervorden-Spatz disease (HSD) is a rare autosomal-recessive hereditary disorder characterized by the early onset of progressive movement alterations, including dystonia, rigidity, choreoathetosis, and mental deterioration. HSD is also associated with a variety of psychiatric symptoms, primarily depression and mental deterioration. However, psychosis has rarely been reported as a major symptom of HSD. We report two siblings who presented psychiatric symptoms as major clinical presentations, accompanied by ataxic and spastic gait, dysarthria, and typical neuroimaging findings of HSD. A 14-year-old girl presented complex motor tics, stereotypic behavior and anxiety symptoms. Her older brother, a 16-year-old boy, presented prominent auditory hallucinations, persecutory delusions and social withdrawal symptoms. Psychiatric symptoms were improved after atypical antipsychotic treatment. HSD is a rare disease but should be carefully considered in the diagnosis of patients with both motor disorder and various psychiatric symptoms.
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PMID:Psychiatric disorder in two siblings with hallervorden-spatz disease. 2004

Hashimoto's encephalopathy (HE) is a rare condition associated with Hashimoto's thyroiditis (HT). It is characterized by neurological/psychiatric symptoms, high levels of anti-thyroid antibodies, non-specific radiological examinations or electroencephalogram abnormalities, and responsiveness to corticosteroid treatment. We describe the case of a man with HE who showed decreased mentality, cognitive impairment, dysarthria, and gait disturbance. The initial attack was improved rapidly by corticosteroid treatment. When the symptoms recurred in 7 months, the patient achieved spontaneous remission without corticosteroid treatment. The recognition of the condition was essential for the prognosis and treatment of this rare disease.
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PMID:Recurrent Hashimoto's encephalopathy, showing spontaneous remission: a case report. 2167 67


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