scholarly journals Generalized Hyperpigmentation of Skin as an Atypical Presenting Feature in Wilson Disease

2018 ◽  
Vol 42 (1) ◽  
pp. 43-45
Author(s):  
Abdullahel Amaan ◽  
Md Rukunuzzaman ◽  
Khainoor Zahan ◽  
Khan Lamia Nahid ◽  
ASM Bazlul Karim
Keyword(s):  
Liver Disease ◽  
Wilson Disease ◽  
Autosomal Recessive ◽  
Copper Metabolism ◽  
Autosomal Recessive Disorder ◽  
Whole Body ◽  
Copper Accumulation ◽  
Diagnostic Dilemma ◽  
Common Causes ◽  
The Common

Background: Wilson disease is an autosomal recessive disorder of copper metabolism, where excessive copper accumulation occurs in various tissues. Although hepatic and neurological symptoms predominates, it may present with some other unusual features which sometimes confuses clinicians and makes a diagnostic dilemma. We present here an 11 years old boy presented with gradual darkening of whole body over last 2 months and jaundice for 5 month. His clinical features and laboratory parameters were suggestive of Wilson disease. Being one of the common causes of chronic liver disease (CLD) in childhood, Wilson disease may present with some atypical features like darkening of complexion.Bangladesh J Child Health 2018; VOL 42 (1) :43-45

scholarly journals Neurological Manifestation of Wilson Disease at an Early Age: A Case Report

2010 ◽  
Vol 23 (1) ◽  
pp. 87-90
Author(s):  
MI Bari ◽  
LS Sharmin ◽  
T Alam
Keyword(s):  
Case Report ◽  
Liver Disease ◽  
Wilson Disease ◽  
Inborn Error ◽  
Autosomal Recessive ◽  
Copper Metabolism ◽  
Autosomal Recessive Disorder ◽  
Neurological Manifestation ◽  
Early Age ◽  
P Type

Wilson’s disease (hepatolenticuler degeneration), an inborn error of copper metabolism, is an autosomal recessive disorder characterized by degenerative changes in brain, liver disease and Kayser Fleisher (KF) rings in the cornea. It is due to a defect of p-type ATPase which is probably required for normal excretion of copper through bile. Hepatic manifestation of the disease is common at early age and neurological manifestation is common at an older age. We are reporting Wilson disease with neurological manifestation in a 10 year old boy. TAJ 2010; 23(1): 87-90

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.

Wilson Disease

1996 ◽  
Vol 17 (12) ◽  
pp. 448-448
Author(s):  
Philip O. Ozuah
Keyword(s):  
Biliary Excretion ◽  
Wilson Disease ◽  
Autosomal Recessive ◽  
Copper Metabolism ◽  
The Body ◽  
Hepatolenticular Degeneration ◽  
Dietary Copper ◽  
Hepatic Copper ◽  
Excess Copper ◽  
Excessive Accumulation

Wilson disease (hepatolenticular degeneration) is an autosomal recessive, inherited disorder of copper metabolism resulting in excessive accumulation of copper in the liver, brain, and other organs of the body. The manifestations of the disease are related directly to this accumulation of copper. Copper homeostasis normally is a product of the balance between intestinal absorption of dietary copper and hepatic biliary excretion of excess copper. In Wilson disease, incorporation of hepatic copper into ceruloplasmin is defective and excretion of copper in the bile is reduced. A low level of ceruloplasmin, which until a few years ago was erroneously considered to be the basis for the disease, is a consequence of the underlying metabolic defect.

scholarly journals Neurologic Wilson Disease Presenting with Acute Delirium And Automatic Writing Behaviour: A Case Report

2019 ◽  
pp. 1-4
Author(s):  
Deniz Ertem ◽  
Dilşat Türkdoğan ◽  
Engin Tutar ◽  
Esra Polat ◽  
Gazanfer Ekinci ◽  
...  
Keyword(s):  
Wilson Disease ◽  
Autosomal Recessive ◽  
Psychiatric Symptoms ◽  
Neuropsychiatric Symptoms ◽  
Autosomal Recessive Disorder ◽  
Elevated Transaminase ◽  
Wide Range ◽  
Frontal Lobe Dementia ◽  
Automatic Writing ◽  
Writing Activity

Introduction: Wilson’s disease (WD) is a rare autosomal recessive disorder which leads to abnormal copper deposition in multiple tissues. Due to extensive deposition of copper in the liver and brain, WD primarily manifests with a wide range of symptoms as well as psychiatric symptoms. Method: We report a 15-year-old boy presenting with automatic writing behavior and acute neuropsychiatric symptoms; splenomegaly and elevated transaminase levels. Result: A diagnosis of WD was later made, following liver biopsy. Previously, increased writing activity has been reported in cerebrovascular disease, frontal lobe dementia, temporal lobe epilepsy, Parkinson disease and multiple sclerosis but not in WD. Conclusion: This is the first report of increased writing behavior in WD.

scholarly journals Wilson disease: more than meets the eye

2018 ◽  
Vol 94 (1112) ◽  
pp. 335.2-347 ◽  
Author(s):  
Claire Kelly ◽  
Marinos Pericleous
Keyword(s):  
Liver Transplantation ◽  
Liver Disease ◽  
Liver Failure ◽  
Acute Liver Failure ◽  
High Mortality ◽  
Mortality Risk ◽  
Wilson Disease ◽  
Copper Metabolism ◽  
High Mortality Risk ◽  
High Index Of Suspicion

Wilson disease is a rare but important disorder of copper metabolism, with a failure to excrete copper appropriately into bile. It is a multisystem condition with presentations across all branches of medicine. Diagnosis can be difficult and requires a high index of suspicion. It should be considered in unexplained liver disease particularly where neuropsychiatric features are also present. Treatments are available for all stages of disease. A particularly important presentation not to overlook is acute liver failure which carries a high mortality risk and may require urgent liver transplantation. Here, we provide an overview of this complex condition.

scholarly journals Zinc Monotherapy as an Alternative Treatment Option for Decompensated Liver Disease due to Wilson Disease?

2020 ◽  
Vol 2020 ◽  
pp. 1-5 ◽  
Author(s):  
Hansa Haftu ◽  
Mohammed Mustefa ◽  
Teklu Gebrehiwot
Keyword(s):  
Liver Disease ◽  
Treatment Option ◽  
Alternative Treatment ◽  
Wilson Disease ◽  
Copper Metabolism ◽  
Variable Degree ◽  
Decompensated Liver Disease ◽  
Serum Ceruloplasmin ◽  
Asymptomatic Patients ◽  
Alternative Treatment Option

Background. Wilson disease is a rare metabolic disorder involving copper metabolism, and patients may present with a variable degree of hepatic, neurologic, and psychiatric manifestations. In the case of hepatic presentation, treatment is usually initiated with potentially toxic copper chelators (D-penicillamine or Trenton). Although zinc is of low toxicity and low cost for treatment of Wilson disease, it has been limited to the adjunctive as a single maintenance drug or for asymptomatic patients. The use of zinc monotherapy in patients suffering from a severe liver disease was not well studied. In our case report, we describe a pediatric patient who presented with liver failure and the use of zinc monotherapy in patients with severe hepatic manifestations. Case presentation. A 15-year-old male patient from Ethiopia presented with generalized body swelling (edema and ascites) with yellowish discoloration of his eyes and easy fatigability. He had hyperbilirubinemia, coagulopathy, hypoalbuminemia, and deranged liver enzymes. He had a Keyser–Fleischer ring visible with the naked eye, which was confirmed by slit-lamp examination. He had very low serum ceruloplasmin (<8 mg/L) and high 24-hour urine copper (150 mcg/dl). In accordance with the scoring system proposed by the 8th International Meeting on Wilson Disease and Menkes Disease, a diagnosis of Wilson disease was made. Zinc monotherapy with low copper diet was initiated for decompensated liver disease due to Wilson disease because of the inaccessibility of chelators (D-penicillamine or Trientine). After months of treatment with zinc, the patient experienced normalization of hepatic synthetic function and resolution of hypoalbuminemia and coagulopathy. The patient had also clinically stabilized (ascites, lower extremity swelling, edema, and jaundice were improved. Currently, the patient is on follow-up almost for the last four years in the gastrointestinal clinic. Conclusion. Our case shows that zinc has the potential for treatment in improving liver function. Though zinc has its own side effects, it is important and maybe an alternative treatment option in those with limited resources (not able to access chelators). This example hopefully will encourage future investigations and researches on zinc monotherapy for treating symptomatic decompensated hepatic Wilson disease.

scholarly journals A novel homozygous variation in the PANK2 gene in two Persian siblings with atypical pantothenate kinase associated neurodegeneration

2019 ◽  
Vol 11 (1) ◽  
Author(s):  
Amir Hasan Habibi ◽  
Saeed Razmeh ◽  
Omid Aryani ◽  
Mohammad Rohani ◽  
Laleh Taghavian ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Imaging Finding ◽  
Magnetic Resonance Imaging Finding ◽  
Autosomal Recessive Disorder ◽  
Resonance Imaging ◽  
Pantothenate Kinase ◽  
Common Presentation ◽  
The Common ◽  
Severity Of The Disease ◽  
Novel Variation

Pantothenate Kinase-associated Neurodegeneration (PKAN) is an autosomal recessive disorder that is caused by variation in pantothenate kinase-2 gene (PANK2) gene on chromosome 20. The common presentation of this disease includes progressive dystonia, Parkinsonism, retinopathy, cognitive impairment, and spasticity. The typical magnetic resonance imaging finding is eye of the tiger sign in globus pallidus and not pathogenic and not found in all patients. In the present study, we describe two siblings who have a novel variation of the PANK2 gene. These patients with the same genotype, have different ages at the onset of disease and also the various severity of the disease. The description of these cases helps to understand this disease, its symptoms, pathogenesis, and its treatment.

Wilson’s disease

Open Medicine ◽  
2010 ◽  
Vol 5 (2) ◽  
pp. 145-149
Author(s):  
Mehmet Hursitoglu ◽  
Mehmet Cikrikcioglu ◽  
Ahmet Danalioglu ◽  
Tufan Tukek
Keyword(s):  
Wilson’S Disease ◽  
Clinical Manifestations ◽  
Copper Metabolism ◽  
Autosomal Recessive Disorder ◽  
Wilson's Disease ◽  
Copper Accumulation ◽  
Genetic Studies ◽  
Initiation Of Therapy ◽  
The Brain ◽  
Underlying Pathophysiology

AbstractWilson’s disease is an autosomal-recessive disorder caused by mutation in the ATP7B gene. Absent or reduced function of ATP7B protein leads to decreased hepatocellular excretion of copper into bile. Subsequent copper accumulation, first in the liver but ultimately in the brain and other tissues, produces different clinical manifestations such as hepatic, neurological, hematological, ophthalmological, and psychiatric problems. Diagnosis is based on clinical suspicion, parameters of copper metabolism, ophthalmic examination (Kayser-Fleischer rings) and a liver biopsy. Genetic studies are of limited use. Early diagnosis and initiation of therapy with chelators and therapeutic plasma exchange therapy are essential for prognosis. Liver transplantation corrects the underlying pathophysiology and can be lifesaving in fulminant hepatic failure. Screening of siblings and 1st degree relatives of the patients is also important.

scholarly journals WILSON’S DISEASE WITH AYURVEDIC APPROACH - A CASE STUDY

2020 ◽  
Vol 8 (10) ◽  
pp. 4910-4916
Author(s):  
Renu Rani ◽  
Satyawati Rathia ◽  
Kori V. K. ◽  
Patel K. S.
Keyword(s):  
Wilson Disease ◽  
Liver Toxicity ◽  
Symptomatic Relief ◽  
Treatment Protocol ◽  
Copper Metabolism ◽  
Female Child ◽  
Copper Accumulation ◽  
Func Tion

Wilson disease is a rare, inherited autosomal recessive disease of copper metabolism. Loss of ATP7B func-tion leads various grades of reduced biliary excretion of copper accumulation and toxicity of copper in the liver, brain and other tissues results in liver toxicity and other myriad manifestations of the disease. In clas-sics there is no exact description of the disease entity which exactly matches the feature of Wilson disease, but it can be correlated with Sahaja Vyadhi or Janamjata Vyadhi. A 16-year-old female child diagnosed with Wilson disease complaints of improper gait, altered speech, chronic constipation and altered mental level etc. Investigation shows S. Ceruloplasmin- 0.4mg/dl, S. copper- within normal limit, slit lamp study for KF ring was positive. This patient was treated with Ayurvedic procedures i.e. Abhyanga, Swedana, Bas-ti and Nasya along with oral medication. After two treatment protocol patient got symptomatic relief in clin-ical features. So, it can be concluded that quality of life (QOL) of patients with chronic disease can be im-proved with the help of internal Ayurvedic medication along with Panchkarma procedure.

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.

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