Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:1.16.3.1 (ceruloplasmin)
 5,074 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We present the case of a 53 year-old patient with idiopathic thrombocytopenia associated with Wilson's disease. Idiopathic thrombocytopenia was diagnosed in August of 1994, and as the response to corticosteroid therapy was poor, the patient underwent a splenectomy in October of the same year. A liver biopsy, which was performed during the operation, showed Wilson's disease in the form of mild, chronic, active hepatitis. The serum ceruloplasmin was low, and the Kayser Fleischer's ring was positive. MRI of the brain showed cortical reductive changes with areas of copper accumulation in the white brain matter. An unusual presentation of Wilson's disease associated with idiopathic thrombocytopenia has not been published as of yet. The diagnosis of Wilson's disease was made at an advanced, adult age, which may implicate a heterozygous genetic configuration.
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PMID:Idiopathic thrombocytopenia associated with Wilson's disease. 984 Jan 46

We present a 19-year-old patient with hematologic and neurologic manifestations associated with Wilson's disease. Idiopathic thrombocytopenia was diagnosed in October 2009. Bone marrow aspiration was normal. Gradually her neurologic and psychiatric symptoms emerged, dysarthria, writing apraxia, learning difficulties, emotionalism and eventually dystonia of hands. The serum ceruloplasmin was low, and the Kayser Fleischer's ring was positive. MRI of the brain showed abnormality in the bilateral basal ganglia, brain stem and superior cerebellar peduncles without post-contrast enhancement.
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PMID:Idiopathic Thrombocytopenia and Neurologic Manifestations in A Young Female Leading to the Diagnosis of Wilson's Disease. 2464 89