scholarly journals Generalized hyperpigmentation in Wilson’s disease: An unusual association

2013 ◽  
Vol 04 (01) ◽  
pp. 70-72 ◽  
Author(s):  
Madhumita Nandi ◽  
Sumantra Sarkar ◽  
Rakesh Mondal
Keyword(s):  
Autosomal Recessive ◽  
Wilson’S Disease ◽  
Copper Metabolism ◽  
Autosomal Recessive Disorder ◽  
Wilson's Disease ◽  
Unusual Association ◽  
Diagnostic Difficulties ◽  
The Central Nervous System ◽  
Neurological Features ◽  
Atypical Presentations

ABSTRACTWilson’s disease, an autosomal recessive disorder of copper metabolism, most commonly presents either with hepatic or neurological features. But, it may sometimes have certain atypical presentations posing diagnostic difficulties. We report here a case of Wilson’s disease presenting with generalized hyperpigmentation of skin who also developed neurological manifestations subsequently. We aim to highlight the importance of keeping Wilson’s disease as one of the differentials in patients who present with hyperpigmentation and neurological symptoms compatible with copper deposits in the central nervous system and proceed for investigations accordingly.

scholarly journals Dermatological Manifestations of Wilson’s Disease: Two Cases

2018 ◽  
Vol 16 (2) ◽  
pp. 59-62
Author(s):  
Rubaiyat Alam ◽  
ASM Bazlul Karim ◽  
Md Rukunuzzaman ◽  
Kamal Hossen ◽  
Shashi Bhushan Thakur ◽  
...  
Keyword(s):  
Wilson’S Disease ◽  
Early Recognition ◽  
Specific Treatment ◽  
Copper Metabolism ◽  
Autosomal Recessive Disorder ◽  
Skin Lesions ◽  
Neurological Complications ◽  
Wilson's Disease ◽  
Diagnostic Difficulties ◽  
Atypical Presentations

Wilson's disease, an autosomal recessive disorder of copper metabolism, most commonly presents either with hepatic or neurological features. But it may sometimes have certain atypical presentations which may lead to diagnostic difficulties. We report here two cases who were diagnosed as Wilson's disease with prominent skin lesions over both lower extremities. These cases are reported here as it is rare and to highlight the fact that early recognition of the skin lesions may play a role in the diagnosis of Wilson's disease. The need to highlight the importance of skin lesion as a pointer to the early diagnosis of Wilson's disease because specific treatment can prevent further liver injury and neurological complications in most cases.Chatt Maa Shi Hosp Med Coll J; Vol.16 (2); July 2017; Page 59-62

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 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.

Diagnostic Dilemmas of Wilson's Disease: Diagnosis and Treatment

PEDIATRICS ◽  
1978 ◽  
Vol 62 (1) ◽  
pp. 47-51
Author(s):  
Steven L. Werlin ◽  
Richard J. Grand ◽  
Jay A. Perman ◽  
John B. Watkins
Keyword(s):  
Autosomal Recessive ◽  
Wilson’S Disease ◽  
Copper Metabolism ◽  
Autosomal Recessive Disorder ◽  
Disease Diagnosis ◽  
Wilson's Disease ◽  
Diagnosis And Treatment ◽  
Neurologic Dysfunction ◽  
Classical Triad ◽  
High Index Of Suspicion

Wilson's disease, an autosomal recessive disorder of copper metabolism, may defy diagnosis in children The classical triad of Kayser-Fleischer rings, neurologic dysfunction, and hypoceruloplasminemia may be absent. Patients may be seen initially with acute or chronic hepatitis, hemolytic anemia, or neurologic dysfunction. Guidelines are presented for diagnosis of Wilson's disease based on a review of 25 pediatric and adolescent patients. A high index of suspicion is necessary so that therapy with penicillamine may be begun before irreversible liver or neurologic damage occurs. The prognosis is excellent when diagnosis and treatment are established early.

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

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