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
doaj +2 more sources
Assessment of neurological symptoms and associated factors in patients with Wilson’s disease in Southwest China [PDF]
Orphanet Journal of Rare DiseasesBackground Wilson’s disease is an inherited genetic disorder of hepatic copper metabolism characterized by hepatic, neurological, and psychiatric manifestations.
Lu Zhang +14 more
doaj +2 more sources
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
doaj +2 more sources
Wilson’s disease - a current approach to diagnostics and treatment. A literature review
Quality in Sport, 2023 Introduction and purpose Wilson’s disease is a rare autosomal recessive genetic disorder of copper metabolism. Its global genetic prevalence is estimated at around 1:30 000.
Gabriela Licak +9 more
doaj +1 more source
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
doaj +1 more source
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
doaj +1 more source
Simultaneous monitoring of cerebral metal accumulation in an experimental model of Wilson’s disease by laser ablation inductively coupled plasma mass spectrometry [PDF]
BMC Neuroscience, 2014 Neuropsychiatric affection involving extrapyramidal symptoms is a frequent component of Wilson's disease (WD). WD is caused by a genetic defect of the copper (Cu) efflux pump ATPase7B. Mouse strains with natural or engineered transgenic defects of the Atp7b gene have served as model of WD.
Boaru, Sorina Georgiana +7 more
openaire +4 more sources
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
doaj +1 more source
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
doaj +1 more source
A novel deep intronic variant in ATP7B in five unrelated families affected by Wilson disease
Molecular Genetics & Genomic Medicine, 2020 Background Wilson disease is an autosomal recessive metabolic disorder resulting from accumulation of excess copper especially in the liver and brain.
France Woimant +6 more
doaj +1 more source