A RARE CLINICAL CASE OF WILSON’S DISEASE MANIFESTATION IN EARLY CHILDHOOD

2020 ◽  
pp. 49-54
Author(s):  
Oksana Ivanivna Kauk ◽  
Yevheniia Tarasivna Solovieva ◽  
Iryna Oleksandrivna Lapshina ◽  
Yuliia Kostiantynivna Remіnyak
Keyword(s):  
Early Childhood ◽  
Autosomal Recessive ◽  
Clinical Case ◽  
Wilson’S Disease ◽  
Molecular Genetic ◽  
Copper Metabolism ◽  
Wilson's Disease ◽  
The Body ◽  
Inherited Disease ◽  
Disease Manifestation

Wilson's disease is a rare autosomal recessive inherited disease, the pathogenesis of which is associated with impaired copper metabolism in the body, that leads to its excessive accumulation in various organs and tissues, mainly in the liver and central nervous system. Typically the Wilson's disease manifests mainly at a young age. The history of studying this pathology has been described, wherein the important milestones were mentioned as the determination of the role of impaired copper metabolism in pathogenesis of the disease, the establishment of an autosomal recessive inheritance of Wilson's disease. A mandatory clinical manifestation of Wilson's disease is the formation of neurological symptoms as an akinetic−rigid syndrome, hyperkinesis, ataxia, tremor, muscle dystonia, which is associated with a predominant lesion of basal ganglia, the dentate of the cerebellum and substantia nigra. However, the Wilson's disease can be finally diagnosed only on the basis of a combination of clinical data, the results of an ophthalmic (presence of the Kayser − Fleischer ring) laboratory test and molecular genetic analysis. Treatment for Wilson's disease includes a diet that restricts the intake of foods high in copper, and prolonged use of D−penicillamine (cuprenyl). Zinc preparations and antioxidants are also used. Here we present a clinical case from our own practice of atypically early manifestation of Wilson's disease in a child of the first year of life. Key words: Wilson’s disease, impaired copper metabolism, early childhood, extrapyramidal disorders, molecular genetic testing.

scholarly journals A Case of Wilson’s Disease Presenting with Persistant Hemolysis

2021 ◽  
pp. 90-95
Author(s):  
Vrinda Vijayakumari ◽  
Kaliyannan Mayilananthi ◽  
Durga Krishnan ◽  
Ramprasath Anbazhagan ◽  
Gaurav Narayanan
Keyword(s):  
Autosomal Recessive ◽  
Wilson’S Disease ◽  
Copper Metabolism ◽  
Wilson's Disease ◽  
Interesting Case ◽  
Autosomal Recessive Disorders ◽  
Asymptomatic Patients ◽  
Hepatocellular Jaundice ◽  
Recessive Disorders ◽  
Psychiatric Manifestations

Wilson’s disease is one the rare autosomal recessive disorders of copper metabolism due to mutation in ATP7B gene located in chromosome 13. The mutations of this gene cause accumulation of copper in different tissues such as brain, liver, and eyes. The clinical presentation usually reflects this tissue distribution and varies from asymptomatic patients to those with hepatic or neuro-psychiatric manifestations. Here, we report an interesting case of Wilson’s disease which presented with mild persistent hemolysis leading to pre hepatic and post hepatic jaundice. He also had hepatocellular jaundice due to liver injury.

scholarly journals Involuntary movement in an emotionally labile girl : Think of Wilson’s Disease

2018 ◽  
Vol 6 (1) ◽  
pp. 57-59
Author(s):  
Chowdhury Rifat Niger ◽  
Raj Chowdhury ◽  
Chowdhury Akram Uz Zaman ◽  
Tamzeed Hossain ◽  
Rawshan Arra Khanam
Keyword(s):  
Clinical Features ◽  
Inborn Error ◽  
Biochemical Parameters ◽  
Autosomal Recessive ◽  
Wilson’S Disease ◽  
Involuntary Movement ◽  
Copper Metabolism ◽  
Wilson's Disease ◽  
Neurological Manifestations

Wilson’s Disease (WD) is a rare, autosomal recessive, inborn error of copper metabolism, which is caused by a mutation in the copper-transporting gene, ATP7B. The presentation is usually neurologic or hepatic or both, which is seen in 40% of the patients. The diagnosis depends primarily on the clinical features, the biochemical parameters and the presence of the Kayser – Fleischer ring. Here, we are reporting a 13 years old girl who was affected by Wilson’s disease, with both neurological manifestations & hepatic involvement.Bangladesh Crit Care J March 2018; 6(1): 57-59

scholarly journals A service for patients with Wilson's disease

1988 ◽  
Vol 12 (10) ◽  
pp. 426-427
Author(s):  
T. R. Dening ◽  
G. E. Berrios ◽  
C. A. Seymour
Keyword(s):  
Systematic Study ◽  
Autosomal Recessive ◽  
Chelating Agents ◽  
Wilson’S Disease ◽  
Copper Metabolism ◽  
Autosomal Recessive Disorder ◽  
Wilson's Disease ◽  
The Uk

Wilson's disease (WD) is an autosomal recessive disorder of copper metabolism with an incidence of about 30 per million (i.e. fewer than 2,000 in the UK). Nevertheless, it is important for two main reasons: its manifestations are protean and may lead it to present to a range of specialists; and its otherwise lethal course can be halted by treatment with chelating agents such as penicillamine and trientine. Published cases and systematic study have shown that neuropsychiatric symptomatology is important in a high proportion. In fact, about one-fifth either present psychiatrically or are at least seen by a psychiatrist before WD is diagnosed.

scholarly journals Wilson's disease: A rare autosomal recessive disorder of copper metabolism

2014 ◽  
Vol 4 (2) ◽  
pp. 51-53
Author(s):  
RR Pradhan ◽  
J Gupta
Keyword(s):  
Autosomal Recessive ◽  
Wilson’S Disease ◽  
Clinical Manifestations ◽  
Copper Toxicity ◽  
Copper Metabolism ◽  
Autosomal Recessive Disorder ◽  
Wilson's Disease ◽  
Medical College ◽  
Ocular Manifestations ◽  
Membrane Bound

Wilson’s disease is an autosomal recessive disorder caused by mutations in the ATP7B gene, a membrane-bound copper-transporting ATPase. Clinical manifestations are caused by copper toxicity and primarily involve the liver, the brain and the eye. Because effective treatment is available, it is important to make this diagnosis early. We report a patient who developed features of neurological and ocular manifestations: incoordination and tremor and blurring of vision with presence of Kayser-Fleischer ring circling the cornea but no signs of hepatic dysfunction. DOI: http://dx.doi.org/10.3126/jcmc.v4i2.10866 Journal of Chitwan Medical College 2014; 4(2): 51-54

scholarly journals Wilson's Disease Complicated with Massive Cerebral Infarction：A Case Report

2020 ◽  
Author(s):  
ying ma ◽  
Juan zhang ◽  
hong chen ◽  
YUNBAO WANG
Keyword(s):  
Case Report ◽  
Cerebral Infarction ◽  
Rare Diseases ◽  
Autosomal Recessive ◽  
Wilson’S Disease ◽  
Copper Metabolism ◽  
Autosomal Recessive Disorder ◽  
Wilson's Disease ◽  
Significant Morbidity ◽  
Hepatolenticular Degeneration

Abstract Hepatolenticular degeneration, also known as Wilson's disease, is an autosomal recessive disorder of copper metabolism that causes rare diseases with significant morbidity and mortality. To our knowledge, no cases of hepatolenticular degeneration with massive cerebral infarction have been reported up to now. Here we present a case of hepatolenticular degeneration with massive cerebral infarction. Early, appropriate diagnosis and initiation of proper therapy could avoid further progression and reduce complications of the disease.

scholarly journals D-penicillamine-induced Status Dystonicus in A Patient with Wilson’s Disease: A Diagnostic & Therapeutic Challenge

2015 ◽  
Vol 3 (2) ◽  
pp. 62-64
Author(s):  
A. Satyasrinivas ◽  
Y.S. Kanni ◽  
N Rajesh ◽  
M. SaiSravanthi ◽  
Vijay Kumar
Keyword(s):  
Internal Medicine ◽  
Young Adults ◽  
Autosomal Recessive ◽  
Wilson’S Disease ◽  
Copper Metabolism ◽  
Autosomal Recessive Disorder ◽  
Wilson's Disease ◽  
Therapeutic Challenge ◽  
Status Dystonicus

Wilson's disease is an autosomal-recessive disorder of copper metabolism resulting from the absence or dysfunction of a copper-transporting protein. The disease is mainly seen in children, adolescents and young adults, and is characterized by hepatobiliary, neurologic, psychiatric and ophthalmologic (Kayser-Fleischer rings) manifestations. Mechanism of status dystonicus in WD is not clear. We present here a case study of Wilson’s disease in 14 year old child with dystonia not responded with routine therapy.Journal of Advances in Internal Medicine 2014;3(2):62-64

scholarly journals A Case Report of Misdiagnosis of Psychotic Symptoms Predominant Wilson's Disease

2018 ◽  
Vol 09 (04) ◽  
pp. 616-618 ◽  
Author(s):  
Bhupendra Shah ◽  
Suren Limbu
Keyword(s):  
Case Report ◽  
Schizoaffective Disorder ◽  
Autosomal Recessive ◽  
Wilson’S Disease ◽  
Chelation Therapy ◽  
Autosomal Recessive Disease ◽  
Copper Metabolism ◽  
Wilson's Disease ◽  
Psychotic Symptoms ◽  
Rare Manifestation

ABSTRACTWilson's disease is an autosomal recessive disease of abnormal copper metabolism. Psychosis is a rare manifestation of Wilson's disease. Few cases of misdiagnosing Wilson's disease as an etiology of psychosis were reported in the literature. We report a case of a 42-year-old patient, who was diagnosed with a schizoaffective disorder and treated with antipsychotics for 3 years with no significant improvement. On reevaluation, we the patient was diagnosed to have Wilson's disease. The patient's symptoms improved significantly with chelation therapy.

Genetic and clinical characteristic of Wilson-Konovalov disease in the Siberian region

2021 ◽  
pp. 53-56
Author(s):  
И.Ж. Жалсанова ◽  
Е.А. Фонова ◽  
А.А. Сивцев ◽  
А.Е. Постригань ◽  
Т.А. Саковская ◽  
...  
Keyword(s):  
Wilson’S Disease ◽  
Clinical Symptoms ◽  
Molecular Genetic ◽  
Copper Metabolism ◽  
Illumina Miseq ◽  
Wilson's Disease ◽  
Molecular Genetic Analysis ◽  
Clinical Diagnostics ◽  
Diagnostic Methods ◽  
Serum Ceruloplasmin

Болезнь Вильсона-Коновалова - редкое аутосомно-рецессивное заболевание, которое характеризуется патологическим накоплением меди в печени, головном мозге и других тканях. Дифференциальная диагностика болезни Вильсона-Коновалова представляет собой сложную задачу вследствие выраженной гетерогенности клинических проявлений. Это подчеркивает важность разработки как новых методов диагностики, так и усовершенствования существующих. В рамках настоящего исследования было проведено сравнение клинической диагностики заболевания с результатами молекулярно-генетических исследований. Проанализировано 42 пациента с подозрением на болезнь Вильсона-Коновалова. Произведена оценка значения биохимических показателей метаболизма меди (концентрация церулоплазмина, щелочной фосфатазы, общего билирубина, АСТ, АЛТ сыворотки крови, содержание меди в печени, экскреция меди с мочой) согласно Лейпцигской количественной шкале. Для молекулярно-генетического анализа использовали геномную ДНК. Обогащение интересуемых регионов генома проводилось с помощью ПЦР длинных фрагментов. Для подготовки ДНК библиотек был использован набор Nextera DNA Flex (Illumina, США). Секвенирование проводилось на приборе Illumina MiSeq (Illumina, США). В результате исследования в 62,5% случаев у пациентов, направленных на подтверждение диагноза (по Лейпцигской количественной шкале), были найдены мутации в гене ATP7B, что подтверждает ценность комплексной диагностики по Лейпцигской количественной шкале с учетом клинической симптоматики и лабораторных показателей метаболизма меди. Wilson’s disease is a rare autosomal recessive disorder characterized by abnormal accumulation of copper in the liver, brain, and other tissues. Wilson’s disease differential diagnosis is a difficult task due to the pronounced clinical heterogeneity. This emphasizes the importance of developing both new diagnostic methods and improving existing ones. As part of this study, we compared clinical diagnostics with the results of molecular genetic studies. We analyzed 42 patients with suspected Wilson’s disease. The biochemical parameters copper metabolism values were assessed (serum ceruloplasmin concentration, liver copper content, urinary copper excretion, alkaline phosphatase, total bilirubin, AST, ALT) according to the Leipzig quantitative scale. We used genomic DNA for molecular genetic analysis. Regions of interest in the genome was enriched using long-range PCR. The Nextera DNA Flex kit (Illumina, USA) was used to prepare DNA libraries. Sequencing was performed on an Illumina MiSeq device (Illumina, USA). As a result of the study, in 62.5% of cases in patients aimed at confirming the diagnosis (according to the Leipzig quantitative scale), we found mutations in the ATP7B gene, which confirms the value of a comprehensive diagnosis according to the Leipzig quantitative scale, taking into account the clinical symptoms and copper metabolism laboratory parameters.

scholarly journals Catatonic Disorder due to Wilson’s disease - A rare presentation

2015 ◽  
pp. 17-20
Author(s):  
Tanushree Bhattacharya ◽  
Asish Debnath ◽  
Sharmila Sarkar
Keyword(s):  
Wilson Disease ◽  
Autosomal Recessive ◽  
Wilson’S Disease ◽  
Autosomal Recessive Disorder ◽  
Wilson's Disease ◽  
The Body ◽  
Rare Presentation ◽  
Neurological Features ◽  
Copper Chelators ◽  
Psychiatric Manifestations

Wilson disease (WD) is a relatively rare autosomal recessive disorder caused by the mutation of ATP7B gene, resulting in impaired transportation of copper in the body which is then deposited in various organs such as liver, brain and kidney. Catatonia at first presentation in WD has rarely been reported. Here we report a case of a 14 year old boy who presented with catatonia among other neuropsychiatric features and who was later diagnosed with Wilson's disease. He responded well to treatment with Copper chelators, olanzapine and lorazepam. Though uncommon, a diagnosis of Wilson's disease should be considered in the evaluation of adolescents and young adults presenting with psychiatric manifestations &/or neurological features.

scholarly journals THE PSEUDOSCLEROTIC FORM (“WING-BEATING TREMOR”) OF WILSON’S DISEASE

2015 ◽  
Vol 14 (4) ◽  
pp. 242-244
Author(s):  
Alina Poalelungi ◽  
◽  
Viorel Poalelungi ◽  
Daniela Mladin ◽  
Bogdan O. Popescu ◽  
...  
Keyword(s):  
Wilson Disease ◽  
Autosomal Recessive ◽  
Wilson’S Disease ◽  
Brain Mri ◽  
Copper Metabolism ◽  
Autosomal Recessive Disorder ◽  
Wilson's Disease ◽  
Slit Lamp ◽  
The Right ◽  
Progressive Accumulation

Wilson disease is a rare monogenic, autosomal recessive disorder of copper metabolism, leading to progressive accumulation of copper in different organs, essentially in the liver, brain and cornea. We report a case of a 25 years old man, Caucasian, with “wing-beating tremor” in the right arm that started with two month in advance of hospital admission, than evolved to the left arm, a week before hospitalization. The slit-lamp examination showed the presence of Kayser-Fleischer rings in both eyes. The laboratory tests and brain MRI confirmed the diagnostic of Wilson’s disease.

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