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- Title
Recurrent bleeding and bulbar myasthenia-like symptoms as the initial presentation of Wilson's disease: a case report.
- Authors
Prasun, N.; Bagchi, M.; Joseph, A.; Pal, S.; Ghosh, S.; Mukherjee, S.; Senapati, A. K.; Das, S. K.
- Abstract
Wilson's disease, an autosomal recessive disorder of copper metabolism, is usually associated with hepatic or neuropsychiatric manifestations. This is to describe a case of Wilson's disease presenting with recurrent bleeding and bulbar myasthenia-like symptoms. A 12 year old Hindu girl presented initially with recurrent bleeding manifestations such as epistaxis, hematemesis and melaena and followed by swallowing difficulty with fatigability after 2 years. The bleeding was attributed to thrombocytopenia initially and the swallowing difficulty remained undiagnosed as tests for myasthenia gravis were negative. Four years later, the patient developed nasal intonation of the voice with fatigability followed by a decline in scholastic performance. The patient was evaluated in our institute and subtle extrapyramidal signs in the form of asymmetric appendicular dystonia and bradykinesia were noted. Clinical evaluation, laboratory and radiological investigations led to the diagnosis of Wilson's disease. The cause of bleeding was most likely a defect of platelet function. No other cause of her bulbar myasthenia-like symptoms was evident. This case illustrates that in all patients of Wilson's disease with bleeding, a platelet function defect needs also to be considered. In cases of bulbar myasthenia-like symptoms where the diagnosis is not clear, Wilson's disease should be considered in the differential diagnosis, if there is hepatosplenomegaly.
- Subjects
HEPATOLENTICULAR degeneration; COPPER metabolism; HEPATIC manifestations of general diseases; HEMORRHAGE
- Publication
Neurology Asia, 2011, Vol 16, Issue 2, p167
- ISSN
1823-6138
- Publication type
Case Study