atypical case of wilson's disease with psychotic onset, low 24 hour urine copper and the absence of kayser-fleischer rings
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ID: 130680
2014
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Abstract
Introduction. Wilson's disease is typically manifested in two clinical forms,
neurological and hepatic and in rare cases it starts with psychiatric
symptoms exclusively. We presented a rare atypical case of Wilson's disease
with psychotic onset. Case report. A 22-year-old male patient was initially
presented with predominant signs and symptoms of psychiatric disorder and
then later with the development of neurological signs and symptoms.
Neuroimaging, detected metal deposits in central nervous system (CNS) but
not in peripheral organs, while serum analysis excluded pantothenate-kinase
associated neurodegeneration (PKAN) and aceruloplasminemia. In favor of the
diagnosis of Wilson's disease there were reduced concentrations of copper
and ceruloplasmin concentrations and metal deposits in CNS, but other
pathognomonic signs and symptoms were absent: in-creased copper in urine,
Kayser-Fleischer rings in Descemet’s corneal membrane and deposits of
copper in liver. Introduction of penicillamine treatment resulted in
improvement in mental and general health of the patient. Molecular genetic
analysis definitely confirmed the diagnosis of Wilson's disease.
Conclusion. Wilson's disease can remain undetected for a long period of
time if masked with dominant or exclusive psychiatric symptoms. If clear
clinical symptoms and signs, and unambiguous laboratory findings are not
present, it is necessary to perform molecular genetic analysis to confirm
the definitive diagnosis.
| Reference Key |
dragan2014vojnosanitetskiatypical
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|---|---|
| Authors | ;Krstić Dragan;Antonijević Jadranka;Špirić Željko |
| Journal | applied nursing research : anr |
| Year | 2014 |
| DOI |
10.2298/VSP130529049K
|
| URL | |
| Keywords |
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