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The Pan African Medical Journal 2022
Topics: Ceruloplasmin; Copper; Hepatolenticular Degeneration; Humans
PubMed: 35317489
DOI: 10.11604/pamj.2022.41.44.33122 -
Journal of Neurology, Neurosurgery, and... Sep 1997
Review
Topics: Ammonia; Brain Edema; Cholestasis; Diagnosis, Differential; Fatigue; Flumazenil; GABA Modulators; Hepatic Encephalopathy; Hepatolenticular Degeneration; Humans; Intracranial Pressure; Mental Disorders; Receptors, GABA; Severity of Illness Index
PubMed: 9328238
DOI: 10.1136/jnnp.63.3.279 -
International Journal of... 2005Wilson's disease (WD) is an autosomal recessive disorder characterized by copper accumulation and toxicity in the liver and in other tissues. WD presents with liver... (Review)
Review
Wilson's disease (WD) is an autosomal recessive disorder characterized by copper accumulation and toxicity in the liver and in other tissues. WD presents with liver disease, neurological or psychiatric disturbances or other less common clinical features. Diagnosis of WD is often difficult and may be formulated through clinical, biochemical, imaging, histochemical and genetic evaluations. Pharmacological approach in WD consists in copper chelating agents such as D-penicillamine, trientine, dimercaprol and tetrathiomolybdate. In 1997 zinc was approved for maintenance therapy of WD by the U.S. FDA. Orthotopic Liver Transplantation is indicated in fulminant hepatic failure, progressive hepatic insufficiency despite therapy, cirrhosis with complications of portal hypertension. However the most appropriate therapy, including OLT, remains controversial in WD and further studies are needed especially in order to differentiate the possibility of specific therapies for different WD phenotypes.
Topics: Chelating Agents; Copper; Hepatolenticular Degeneration; Humans; Liver Diseases
PubMed: 15698506
DOI: 10.1177/039463200501800102 -
Arquivos de Neuro-psiquiatria Jun 2020
Topics: Eye; Hepatolenticular Degeneration; Humans
PubMed: 32627810
DOI: 10.1590/0004-282X20200036 -
BMC Neurology May 2022Wilson's disease is a hereditary disorder of copper metabolism resulting mainly in hepatic, neurological, and psychiatric symptoms. Multiple sclerosis (MS) is an... (Review)
Review
BACKGROUND
Wilson's disease is a hereditary disorder of copper metabolism resulting mainly in hepatic, neurological, and psychiatric symptoms. Multiple sclerosis (MS) is an immune-mediated demyelinating disease affecting the central nervous system (CNS). The co-occurrence of these two, although not unheard of in literature, is still considered to be very rare and can give rise to diagnostic difficulties. Also, comorbidity in MS highly influences quality of life and disease progression, which makes the timely diagnosis and treatment of these conditions essential.
CASE PRESENTATION
The aim of this study is to present a patient exhibiting symptoms of both MS and Wilson's disease, as well as to conduct a detailed review of previously reported cases. The patient's neurological symptoms (sensory disorder) as well as MRI and CSF findings were characteristic for MS. The diagnosis of MS preceded that of Wilson's disease and was relatively mild in course. Currently, the patient receives cladribine as an immunomodulatory treatment after escalation from glatiramer acetate therapy. Apart from one episode of acute hepatic decompensation, during which transfusion, albumin supplementation and diuretic treatment was necessary, Wilson's disease manifested as chronic impairment of liver function. The diagnosis of Wilson's disease was established by the analysis of serum coeruloplasmin levels, histological examination and genetic findings. Continuous oral penicillamine therapy led to the slow normalization of hepatic function and significant amelioration of the patient's symptoms. Correlating with cases previously reported, the course of MS was relatively mild, and like in three out of four other known cases, the symptoms of Wilson's disease were mostly restricted to hepatic dysfunction.
CONCLUSION
The case presented in our report is similar to those reported before. The co-occurrence of the two diseases seems to be more a coincidence than a sharing of common factors in their pathogenesis; however, they are considered to influence one another. Regarding rare co-occurrences such as this one, every new case is of high importance, as it enables a better evaluation and understanding of the clinical presentations that are more characteristic of these cases, thus aiding the estimation of disease course as well as possible therapeutic choices.
Topics: Copper; Hepatolenticular Degeneration; Humans; Multiple Sclerosis; Penicillamine; Quality of Life
PubMed: 35578211
DOI: 10.1186/s12883-022-02691-5 -
United European Gastroenterology Journal Nov 2023
Topics: Humans; Hepatolenticular Degeneration
PubMed: 37853947
DOI: 10.1002/ueg2.12479 -
Frontiers in Bioscience (Elite Edition) Jun 2019Wilson's disease (WD) is an autosomal recessive disorder which is caused by poor excretion of copper in mammalian cells. In this review, various issues such as effective... (Review)
Review
Wilson's disease (WD) is an autosomal recessive disorder which is caused by poor excretion of copper in mammalian cells. In this review, various issues such as effective characterization of ATP7B genes, scope of gene network topology in genetic analysis, pattern recognition using different computing approaches and fusion possibilities in imaging and genetic dataset are discussed vividly. We categorized this study into three major sections: (A) WD genetics, (B) diagnosis guidelines and (3) treatment possibilities. We addressed the scope of advanced mathematical modelling paradigms for understanding common genetic sequences and dominating WD imaging biomarkers. We have also discussed current state-of-the-art software models for genetic sequencing. Further, we hypothesized that involvement of machine and deep learning techniques in the context of WD genetics and image processing for precise classification of WD. These computing procedures signify changing roles of various data transformation techniques with respect to supervised and unsupervised learning models.
Topics: Copper-Transporting ATPases; Deep Learning; Hepatolenticular Degeneration; Humans
PubMed: 31136971
DOI: 10.2741/E854 -
Arquivos de Neuro-psiquiatria Sep 2014
Topics: Hepatolenticular Degeneration; Humans; Neurodegenerative Diseases; REM Sleep Behavior Disorder
PubMed: 25252226
DOI: 10.1590/0004-282x20140172 -
The American Journal of Case Reports Aug 2023BACKGROUND A first psychotic episode requires the exclusion of toxic-metabolic, inflammatory, infective, and neoplastic causes. Wilson disease is a rare, autosomal...
BACKGROUND A first psychotic episode requires the exclusion of toxic-metabolic, inflammatory, infective, and neoplastic causes. Wilson disease is a rare, autosomal recessive disorder of copper metabolism and can present with neuropsychiatric symptoms secondary to copper accumulation in the brain. CASE REPORT We describe the case of a 48-year-old man with parkinsonism on a background of longstanding schizophrenia and psychotic depression in the setting of previously undiagnosed Wilson disease. The common history of neuropsychiatric disturbance and neuroleptic use complicated the assessment of parkinsonism. However, close attention to the temporal appearance of symptoms and signs differentiated his case from drug-induced parkinsonism, which commonly develops hours to weeks after commencement or uptitration of antipsychotic medication. The early features of sialorrhea and dysarthria were also atypical for idiopathic Parkinson disease. The diagnosis was confirmed by serum copper testing and supported by Kayser-Fleischer rings on bedside ophthalmological examination. Magnetic resonance imaging (MRI) of the brain demonstrated copper accumulation in the basal ganglia and pons, contributing to the characteristic neurological manifestations of an akinetic-rigid syndrome with dysarthria. CONCLUSIONS Serum copper testing is easily obtained and should be considered as part of the first-line investigations for new neuropsychiatric disturbances. Although rare, Wilson disease, if diagnosed early, is a potentially treatable and reversible cause of psychosis. With advanced disease, extrapyramidal findings on examination correlate with MRI brain changes, aiding the clinical assessment in differentiating the disease from drug-induced parkinsonism.
Topics: Male; Humans; Middle Aged; Hepatolenticular Degeneration; Copper; Dysarthria; Psychotic Disorders; Parkinsonian Disorders
PubMed: 37583127
DOI: 10.12659/AJCR.940561 -
Neurologia I Neurochirurgia Polska 2023Many neurodegenerative disorders are associated with olfactory dysfunction (OD), but little is known about OD in Wilson's Disease (WD). We evaluated olfactory function...
INTRODUCTION
Many neurodegenerative disorders are associated with olfactory dysfunction (OD), but little is known about OD in Wilson's Disease (WD). We evaluated olfactory function in patients with WD.
MATERIAL AND METHODS
OD was examined in 68 patients with WD and 70 sex- and age-matched healthy controls using subjective testing with 'Sniffin Sticks'. Threshold discrimination identification (TDI) score and its three components (odour detection threshold, discrimination, and identification) were assessed.
RESULTS
Compared to controls, patients with WD had a significantly weaker sense of smell in terms of TDI (p < 0.01), odour discrimination (p < 0.01), and identification (p < 0.01), but not in terms of odour detection threshold (p = 0.27). Patients with predominantly neurological symptoms were characterised by greater OD by TDI (p < 0.01), odour detection threshold (p = 0.01), and discrimination (p = 0.03). The presence of pathological lesions (p = 0.04) in brain magnetic resonance imaging and generalised brain atrophy (p = 0.02) predisposed to worse TDI. In the WD group, weak inverse correlations between age and TDI score (r = -0.27), odour detection threshold (r = -0.3), and discrimination (r = -0.3) were found. Male gender was a risk factor for abnormal TDI in both WD and controls (both p = 0.02).
CONCLUSIONS
Patients with WD, particularly older individuals, more frequently had OD than healthy volunteers. Predominantly neurological symptoms, and the presence of typical brain MRI changes, predisposed patients with WD to smell disorders.
Topics: Humans; Male; Smell; Hepatolenticular Degeneration; Olfaction Disorders; Magnetic Resonance Imaging; Brain
PubMed: 36939310
DOI: 10.5603/PJNNS.a2023.0020