Atypical childhood Wilson's disease.
ABSTRACT Wilson's disease is a genetic disorder of copper metabolism with a hepatic or neurologic presentation. A hepatic presentation is more common in young children. Neurologic Wilson's disease often manifests as a movement disorder with dystonia, tremor, and dysarthria. Psychiatric or behavioral symptoms can also be a presenting feature of Wilson's disease. We describe an atypical neurologic presentation in a prepubertal child with minimal hepatic involvement; in which transient hemiparesis and encephalopathy dominated her initial neurologic presentation. Brain magnetic resonance imaging revealed extensive cortical and subcortical signal change, in addition to the classical basal ganglia signal abnormality observed in Wilson's disease. She was treated with oral tetrathiomolybdate anticopper therapy, followed by zinc maintenance. Her clinical status and brain imaging improved considerably at 1 year after treatment initiation. Neurologic Wilson's disease may have diverse presentations, and should be considered in children who present with cortical features and signal change on magnetic resonance imaging.
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ABSTRACT: Dietary supplements that contain ephedra alkaloids (sometimes called ma huang) are widely promoted and used in the United States as a means of losing weight and increasing energy. In the light of recently reported adverse events related to use of these products, the Food and Drug Administration (FDA) has proposed limits on the dose and duration of use of such supplements. The FDA requested an independent review of reports of adverse events related to the use of supplements that contained ephedra alkaloids to assess causation and to estimate the level of risk the use of these supplements poses to consumers. We reviewed 140 reports of adverse events related to the use of dietary supplements containing ephedra alkaloids that were submitted to the FDA between June 1, 1997, and March 31, 1999. A standardized rating system for assessing causation was applied to each adverse event. Thirty-one percent of cases were considered to be definitely or probably related to the use of supplements containing ephedra alkaloids, and 31 percent were deemed to be possibly related. Among the adverse events that were deemed definitely, probably, or possibly related to the use of supplements containing ephedra alkaloids, 47 percent involved cardiovascular symptoms and 18 percent involved the central nervous system. Hypertension was the single most frequent adverse effect (17 reports), followed by palpitations, tachycardia, or both (13); stroke (10); and seizures (7). Ten events resulted in death, and 13 events produced permanent disability, representing 26 percent of the definite, probable, and possible cases. The use of dietary supplements that contain ephedra alkaloids may pose a health risk to some persons. These findings indicate the need for a better understanding of individual susceptibility to the adverse effects of such dietary supplements.New England Journal of Medicine 01/2001; 343(25):1833-8. · 51.66 Impact Factor
- JAMA Neurology 06/2002; 59(5):866-7. · 7.58 Impact Factor
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ABSTRACT: This is a report of an autopsy case of Wilson's disease with widespread degeneration of the cerebral cortex and white matter, the basal ganglia and thalamus and, to a lesser degree, the cerebellum and brain stem. The patient was a 28-year-old man at the time of death with the clinical course of a 20-year duration.The lesions consisted of spongy degeneration leading to a cavity formation with insufficient glia fiber proliferation. We noted the characteristic findings of Alzheimer glia (Types I and II) and Opalski cells and the new formation in capillaries.The distribution of the changes in the hemispheres showed the typical pattern with a tendency of preferential superior and anterior localization and a relative preservation of the hippocampal formation, carcarine areas, amygdaloid nuclei and the hypothalamus.Similar cases in the literature were reviewed.Psychiatry and Clinical Neurosciences 11/1987; 41(4):709 - 717. · 2.04 Impact Factor