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)

The development of extrapyramidal syndrome characterised by rigidity, bradykinesia, dysphagia and dysarthria in a male individual with four distinct episodes of (mania like) behavioural disturbances with fairly good remission in a time frame of five years, in a male individual, was suspected to develop the neurological manifestations of Wilson's disease and was investigated. In the absence of Kayser-Fleischer ring by slit-lamp examination and with normal copper and ceruloplasmin serum levels, the diagnosis was possible because of the positive findings of the magnetic resonance imaging (MRI) studies and increased 24 hours urinary copper levels with the penicillamine challenge test. The findings and its implications are highlighted and discussed.
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PMID:Wilson's disease--a rare psychiatric presentation. 2011 50

Wilson disease is a rare copper metabolism disorder that generally occurs in individuals between 5 and 35 years of age. Common clinical manifestations are hepatic, neurological, and psychiatric symptoms. Roughly, 4% of all cases occur in patients over 40 years of age and, among these patients, the presenting symptoms are generally neuropsychiatric, which often leads to misdiagnosis as a primary psychiatric disorder and a delay in correct diagnosis. This report presents the case of a 49-year-old man with no formal psychiatric history who presented with a new onset of mania. We outline the distinctive characteristics that appeared inconsistent with a primary psychiatric disorder and pointed toward secondary mania. Despite low serum ceruloplasmin, the absence of brain abnormalities more typical of Wilson disease on magnetic resonance imaging led a neurology consultant to advise that the diagnosis was likely primarily psychiatric. Due to atypical components of the patient's presentation, such as his late age of onset for bipolar disorder and acute cognitive decline, the psychiatric team advocated for further diagnostic workup. The subsequent evaluation confirmed Wilson disease based on specific ophthalmological and hepatic abnormalities and further copper studies. In addition, once diagnosed, the management of Wilson disease involves distinct clinical considerations given patients' presumed vulnerability to neurological side effects. This case illustrates the role psychiatric providers play in advocating for diagnostic workup in patients with atypical presentations of primary psychiatric disorders and the distinct diagnostic and treatment considerations associated with Wilson disease.
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PMID:A New Onset of Mania in a 49-Year-Old Man: An Interesting Case of Wilson Disease. 3327 88

Wilson disease is a rare copper metabolism disorder that generally occurs in individuals between 5 and 35 years of age. Common clinical manifestations are hepatic, neurological, and psychiatric symptoms. Roughly, 4% of all cases occur in patients over 40 years of age and, among these patients, the presenting symptoms are generally neuropsychiatric, which often leads to misdiagnosis as a primary psychiatric disorder and a delay in correct diagnosis. This report presents the case of a 49-year-old man with no formal psychiatric history who presented with a new onset of mania. We outline the distinctive characteristics that appeared inconsistent with a primary psychiatric disorder and pointed toward secondary mania. Despite low serum ceruloplasmin, the absence of brain abnormalities more typical of Wilson disease on magnetic resonance imaging led a neurology consultant to advise that the diagnosis was likely primarily psychiatric. Due to atypical components of the patient's presentation, such as his late age of onset for bipolar disorder and acute cognitive decline, the psychiatric team advocated for further diagnostic workup. The subsequent evaluation confirmed Wilson disease based on specific ophthalmological and hepatic abnormalities and further copper studies. In addition, once diagnosed, the management of Wilson disease involves distinct clinical considerations given patients' presumed vulnerability to neurological side effects. This case illustrates the role psychiatric providers play in advocating for diagnostic workup in patients with atypical presentations of primary psychiatric disorders and the distinct diagnostic and treatment considerations associated with Wilson disease.
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PMID:Commentary on "A New Onset of Mania in a 49-Year-Old Man: An Interesting Case of Wilson Disease". 3327 89