Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0013421 (dystonia)
 8,418 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Space-occupying lesions of the basal ganglia are a rare cause of extrapyramidal dysfunction in children. Metastatic pineal germinoma in both basal ganglia produced dystonia in a 12-year-old boy. The literature is reviewed. Extrapyramidal manifestations in the child are compared with previously reported cases of basal ganglia neoplasms.
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PMID:Extrapyramidal disorder with pineal germinoma. Case report. 61 10

Descriptions of symptomatic focal dystonia caused by focal lesions of the central nervous system (CNS) are rare in the literature. We report a 9-year-old child who experienced sudden-onset left-hand dystonia for 6 months. Brain magnetic resonance imaging showed a mass lesion involving the putamen, globus pallidus, head of caudate, and the anterior limb of the internal capsule. Histopathological and immunocytochemical examinations of the mass revealed features characteristic of malignant germinoma. CNS germinoma in the basal ganglia is very rare. Combining previous reports in the literature with the anatomical and clinical presentation of our case suggests that this phenomenon results from disruption of the pathways within and adjacent to the basal ganglia.
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PMID:Focal hand dystonia secondary to Basal Ganglia germinoma. 1951 83

Holmes' tremor (rubral or midbrain outflow tremor) refers to a hyperkinetic movement disorder characterized by mild resting and more severe postural and action tremor often with associated brainstem symptoms, dystonia and cerebellar deficits. This syndrome should prompt lesional evaluation with neuroimaging focused on the dorsal midbrain, cerebellar outflow tracts, and thalamus. Herein we report a 26-year-old previously healthy male who presented with 4 years of progressive horizontal diplopia, right Parinaud syndrome, and appendicular ataxia. Neuroimaging revealed a right dorsal midbrain enhancing lesion which completely resolved with intravenous methylprednisolone prompting a diagnosis of neuroinflammatory syndrome. Subsequent clinical and radiographic evaluations, however, revealed steadily progressive left dorsal midbrain syndrome with an expansile enhancing lesion which culminated 4 years from symptom onset with a right upper extremity low-frequency rest, postural and action tremor, ataxic dysarthria, and mild right dystonia with dysdiadochokinesia. Uncomplicated brainstem biopsy confirmed intracranial germinoma and the patient underwent definitive radiation therapy with dramatic radiographic response and partial clinical improvement. This case, which to our knowledge is only the second report of intracranial germinoma presenting as Holmes' tremor, highlights the critical importance of definitive tissue diagnosis in the evaluation of lesional brainstem pathology presenting as Holmes' tremor. Steroid responsiveness can be seen in non-inflammatory pathology including intracranial germinoma. Prompt evaluation and appropriate treatment are important as Holmes' tremor responds poorly to symptomatic therapies and response to radiation therapy is favorable for germinomas.
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PMID:Steroid-responsive intracranial germinoma presenting as Holmes' tremor: importance of a tissue diagnosis. 2580 Sep 41