Wilson’s Disease with Hereditary Hemorrhagic Telangiectasia and Pituitary Microadenoma: A Case Report
Objective: To report a case of a young female patient with Wilson's disease, hereditary hemorrhagic telangiectasia (HHT), and pituitary microadenoma, and to enhance the understanding…Movement disorders as a manifestation of aceruloplasminemia a case report
Objective: To develop a step-by-step diagnostic approach to aceruloplasminemia with initial presentation of movement disorders Background: Aceruloplasminemia is a rare iron overload disorder with autosomal…Laboratory changes of the liver function in the patients with Wilson’s disease
Objective: Wilson's disease (WD) is a chronic progressive neurodegenerative disease with a genetically determined disorder of copper metabolism due to mutations in the ATP7B gene,…Progressive myoclonus ataxia and resting tremor in hypoceruloplasminemia
Objective: To describe two familiar cases of hypoceruloplasminemia presenting with movement disorders Background: Aceruloplasminemia is a metabolic disorder caused by mutations in the ceruloplasmin (CP)…Fatal Psychosis in a young Girl
Objective: We describe a 24-year young female who presented to us with features of Neurolept malignant syndrome. She was later evaluated and found to have…Long term follow-up of Wilson disease patients in Poland. Report from the national reference centre.
Objective: We present seven decades of experience of a single reference centre covering most adult Wilson disease (WD) patients in Poland. Background: WD is a rare…Late onset Wilson’s disease with hepatic and neurological manifestations
Objective: To report a patient with clinically diagnosed late-onset Wilson’s disease (WD). Background: WD is an autosomal recessive disorder of copper biliary excretion caused by…Acquired (non-Wilsonian) hepatocerebral degeneration: case report
Objective: To present a case of the patient with acquired (non-Wilsonian) hepatocerebral degeneration (AHD). Background: AHD is a clinical syndrome which includes movement and cognitive…Etiology and Clinical Study of Basal Ganglionic Lesions in a Sample of Egyptian Children
Objective: to determine the etiology of basal ganglionic disorders in a sample of Egyptian children Background: In childhood, the metabolic activity of the basal ganglia…A case report of Wilson Disease in a Kyrgyz teenager
Objective: Information on the occurrence of WD in the Kyrgyz Republic is currently missing. However, based on previously received epidemiological data to the territories of…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.