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Arquivos de Neuro-Psiquiatria, 2013 Wilson s disease (WD) is a genetically determined, autosomal recessive disorder of copper metabolism. The gene ATP7B encodes a copper carrier that both transports copper from hepatocyte to bile and ceruloplasmin copper incorporation.
Joao Carlos Papaterra Limongi
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Romanian Journal of Neurology, 2011 A disturbance of copper metabolism causes hepatolenticular degeneration (Wilson’s disease), an autosomal recessive disorder whose genetic locus lies on the long arm of chromosome 13.
A. Hancu +5 more
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Unilateral K-F ring in Wilson’s disease
GMS Ophthalmology Cases, 2023 Wilson’s disease, also called hepatolenticular degeneration, has varied clinical manifestations and poses diagnostic challenges. Kayser-Fleischer ring, when present, is considered pathognomic of Wilson’s disease.
Hegde, Shruti P. +1 more
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Wilson’s disease with psychiatric symptoms: a case report [PDF]
Journal of Medical Case ReportsBackground Wilson’s disease is a copper metabolic disorder defined by the body’s accumulation of copper, which inhibits its excretion and initially manifests as liver and neurological symptoms. The patient reported herein showed only psychiatric symptoms
Nguyen Van Tuan +3 more
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Wilson’s Disease with Lymphoproliferative Disorder: A Case Report [PDF]
Journal of Nepal Medical AssociationWilson's disease is characterized by copper accumulation in organs like liver, brain, and eyes, presenting with a varied clinical features, making it challenging to diagnose.
Ashish Jha +2 more
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Seminars in Neurology, 2007 In the almost 100 years since Wilson's description of the illness that now bears his name, tremendous advances have been made in our understanding of this disorder. The genetic basis for Wilson's disease - mutation within the ATP7B gene - has been identified.
Aftab, Ala +4 more
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Psychiatric manifestations of Wilson’s disease
European Psychiatry, 2021 Introduction Wilson’s Disease is a rare, autosomal recessive disorder related to disturbances of copper metabolism. Its clinical picture includes hepatic, neurologic, psychiatric, and systemic manifestations. Psychiatric symptoms are frequent over the
R. Mota Freitas, M.T. Valadas
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Rare Initial Presentation of Wilson’s Disease as Acute Encephalopathy with Recurrent Seizure
Oman Medical Journal, 2023 Basal ganglia-based movement abnormalities are the hallmark of the neuropsychiatric presentation of Wilson’s disease. Seizures are rarely reported in Wilson’s disease, especially as the initial presentation. We report a case of a 17-year-old male who was
Vinitha Leelamani, Jacob George
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Co-occurrence of Wilson disease and Auto-Immune Hepatitis in 14-year-old female: A case report
Al-Mustansiriyah Journal of Pharmaceutical Sciences, 2022 Unusual cases of coexistence between Wilson's disease and autoimmune hepatitis have occurred. There are characteristics of both diseases in this community of patients, and laboratory and histo pathological findings can be misleading.
Fadwa Ghassan Hameed +3 more
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Mayo Clinic Proceedings, 2003 Wilson disease is a rare disorder of copper metabolism that results in accumulation of copper in the liver and subsequently in other organs, mainly the central nervous system and the kidneys. Advances in the diagnosis and treatment of Wilson disease are discussed, with the emphasis that this is a disease of children, adolescents, and young adults.
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