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 present a 19-year-old patient with hematologic and neurologic manifestations associated with Wilson's disease. Idiopathic thrombocytopenia was diagnosed in October 2009. Bone marrow aspiration was normal. Gradually her neurologic and psychiatric symptoms emerged, dysarthria, writing apraxia, learning difficulties, emotionalism and eventually dystonia of hands. The serum ceruloplasmin was low, and the Kayser Fleischer's ring was positive. MRI of the brain showed abnormality in the bilateral basal ganglia, brain stem and superior cerebellar peduncles without post-contrast enhancement.
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PMID:Idiopathic Thrombocytopenia and Neurologic Manifestations in A Young Female Leading to the Diagnosis of Wilson's Disease. 2464 89

A 37-year-old male patient presented with psychiatric symptoms, dysarthria, limb dystonia, increased tendon reflexes, and a Kayser-Fleischer ring in his late teens. Laboratory examinations showed decreased concentrations of serum copper and ceruloplasmin, and increased urinary copper levels. Magnetic resonance imaging (MRI) showed high-signal-intensity lesions in the bilateral putamen, globus pallidus, thalamus, and brainstem on T2-weighted images (T2WI). Based on the MRI results and laboratory data, we diagnosed this patient with Wilson's disease (WD). He was treated with trientine hydrochloride and zinc acetate. Four months after the initiation of treatment, the patient'symptoms began to improve. On a follow-up MRI that was obtained 6 years after treatment, the high-signal-intensity lesions on the T2WI had disappeared completely. However, the low-signal-intensity lesions in the basal ganglia had spread to the caudate nuclei. Here, we discuss the characteristics of the MRI changes in WD following treatment. The Pathological basis for the low-signal-intensity lesions on T2WI in WD remains unclear. Our results suggest that this lesion may reflect the accumulation of materials other than copper.
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PMID:[Magnetic Resonance Imaging Improvement in a Patient with Wilson's Disease Following Treatment with Trientine Hydrochloride and Zinc Acetate]. 2595 10

We report a 40-year-old man who presented with multiple bone pseudofractures after about 20 years from the onset of Wilson's disease (WD). At age 36, he first noticed pain in his left shoulder. At age 39, he had multiple chest pain. On neurologic examinations, dysarthria and dysphagia due to pseudobulbar palsy, rigidity and tremor on right upper lim were observed. WD was confirmed because of low levels of plasma cupper and ceruloplasmin in addition to ATP7B gene mutation. The chest X-ray revealed multiple fractures of the several ribs. We diagnosed osteomalacia due to Fanconi's syndrome because of hypophosphatemia and the impairment of renal tubules for WD. After administration of vitamin D, there happened no new bone pseudofractures. Although bone pseudofractures accompanied by Wilson's disease generally happen in childhood, we should be aware of this symptom even in adulthood.
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PMID:Multiple pseudofractures due to Fanconi's syndrome associated with Wilson's disease. 2885 92

Wilson's disease (WD), in contrast to many neurogenetic metabolic diseases, can be very effectively treated in acute and chronic stages of the disease. However, early recognition is paramount because delays in treatments have much higher risk of unfavorable clinical outcomes. Identification of WD remains challenging because it is a great imitator and requires a high index of suspicion for correct and timely diagnosis. Initial neurologic problems can be seen in approximately 40%-50% of patients and the rest has either hepatic or primarily psychiatric manifestations. Neurologic and neuropsychiatric problems in WD are quite nonspecific and we discuss the most common clinical problems associated with early and late stages of the disease. Many patients with neurologic symptoms do not have any obvious hepatic symptoms. Most common neurologic abnormalities include dysarthria, dystonia, tremor and Parkinsonism. In spite of its phenotypic heterogeneity, laboratory abnormalities, reflecting abnormal copper homeostasis, are very specific and the diagnosis of WD remains laboratory based. We review most important challenges and pitfalls in laboratory evaluation of WD, including emerging role of genetic testing. Pharmacologic treatments need to be life-long and are focused on restoration of negative copper balance without inducing iatrogenic copper deficiency. The gold standard of therapy is chelation of excessive copper. Chelators may induce further clinical deterioration in some treated patients. We also review most promising novel therapeutic approaches that appear to better control non-ceruloplasmin or free copper because elevation of free copper may be responsible for paradoxical neurologic worsening.
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PMID:Wilson's disease: A master of disguise. 3079 6

The patient was a 64-year-old man presented with difficulty in walking, articulation, and swallowing, as well as cognitive impairment. He had refractory microcytic anemia and diabetes mellitus. His serum levels of iron, copper, and ceruloplasmin were low. Magnetic resonance imaging suggested iron deposition in the basal ganglia, thalami, cerebellar dentate nuclei, and cerebral and cerebellar cortices. He was diagnosed with aceruloplasminemia after a ceruloplasmin gene analysis. Iron chelation therapy with deferasirox improved his anemia and cerebellar symptoms, which included dysarthria and limb ataxia. The present study and previous reports indicate that cerebellar symptoms with aceruloplasminemia might respond to deferasirox in less than one year.
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PMID:Deferasirox Might Be Effective for Microcytic Anemia and Neurological Symptoms Associated with Aceruloplasminemia: A Case Report and Review of the Literature. 3223 21


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