Atypical childhood Wilson's disease.

Division of Pediatric Neurology, Department of Pediatrics, University of Michigan, Ann Arbor, Michigan 48109-0202, USA.
Pediatric Neurology (Impact Factor: 1.42). 02/2004; 30(1):57-60. DOI: 10.1016/S0887-8994(03)00422-3
Source: PubMed

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: Tremor in childhood is not commonly described in the literature; but it is also likely underappreciated. The etiology of childhood tremor encompasses a wide variety of pathologic processes. Tremor may occur in isolation, or in association with other neurologic findings or systemic disorders. This article aims to provide an overview of tremorogenic mechanisms with respect to neuroanatomy and neurophysiology, particularly as they relate to children. Classification of tremors, diagnostic entities in childhood, and treatment will also be discussed. With improved recognition and characterization of childhood tremors, we may gain a better understanding of the pathophysiology of the disease and determine more age-appropriate treatment strategies.
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    Revista CEFAC 01/2010; 12(3).
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    ABSTRACT: BACKGROUND: dysarthria in Wilson's disease. PROCEDURES: case study of two patients with disease's diagnosis, both young female adults, with six years of schooling. Perceptual analysis was done by four speech therapists. The following parameters were assessed: voice quality, loudness, pitch, vocal attack, vocal stability and resonance, as well as the degree of deviated parameters, measured by a visual analogue scale. In addition, the intelligibility was analysed by an orthographic transcription method. Praat 4.4.13 software was used for acoustic analysis. Fundamental frequency, phonatory stability, noise and temporal measures were equally assessed. RESULTS: both patients have a speech characterized by: maximum phonation time reduced, breathiness and strained harsh voice quality, voice stoppages, transient breathiness, increased shimmer and noise-to-harmonics ratio, hypernasality. Oral diadochokinesia, speech rate and intelligibility of speech were reduced. The results suggested that the patient who showed Wilson's disease for longer time showed more acute impairments in most of the analyzed perceptual and acoustic parameters. CONCLUSION: both cases showed similar caracteristics. These features seem to be typical in dysarthric patients with Wilson's disease. However, differences were also observed, and can be related to the disease's evolution.
    Revista CEFAC 06/2010; 12(3):509-515.