Objective: To study clinical presentations of Wilson’s disease.

Background: Wilson disease (WD; also known as hepatolenticular degeneration) is an autosomal-recessive disorder caused by mutation in the ATP7B gene2.This gene encodes a metal- transporting P-type adenosine triphosphatase (ATPase), which is expressed mainly in hepatocytes and functions in the transmembrane transport of copper within hepatocytes. Absent or reduced function of ATP7B protein leads to decreased hepatocellular excretion of copper into bile. This results in hepatic copper accumulation and injury. Eventually, copper is released into the bloodstream and deposited in other organs, notably the brain, kidneys, and cornea. Clinical presentation can vary widely,The patient needs a lifelong treatment but early diagnosis can prevent significant damage to the critical organs.

Method: Case Presentation

Results: A male patient 33 years old, Married and father of 3, living at Alfayoum Egypt,no history of special habits of medical importanceFamily history was irrelevant. The condition started 10 years ago when the patient developed gait instability clumsiness of both hands one year later worsening of the symptoms difficulty of articulation despite good communication, 3 months ago he started to have psychotic manifestations in the form of auditory and visual hallucinations. Examination: staccato speechkayser fleischer rings 3 mm in diameterno nystagmusstaccato speechataxia of both upper limb and lower limbtruncal titubationwing beatinghead noddingnormal motor power/reflexesnormal sensory examinationInvestigations. MRI Brain: Diffuse cerebral, brainstem and cerebellar atrophyleft temporal arachnoid cystserum cupper: 36 lowserum ceruloplasmin: 3 low24 urinary cupper: 680 high. Abdominal U/S: diffuse parenchymal liver disease, splenomegalywilson criteria:

Conclusion: Wilson’s disease has very wide spectrum of clinical presentations.

References: Roberts, E. A., & Schilsky, M. L. (2008). Diagnosis and treatment of Wilson disease: an update. Hepatology, 47(6), 2089-2111.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/a-case-presentation-of-wilsons-disease/