Nieman-Pick’s disease
Abstract
This article presents and discusses the case of a 2-month old boy who came to Hospital de Clínicas de Porto Alegre with a history of jaundice persisting for 45 days. He presented with regular general state, no fever, important jaundice, low weight/height ratio, abdominal distention and enlargement of the liver and spleen. Abdominal ultrasonography and hepatobiliary scintigraphy were normal. The pacient stayed at HCPA for 26 days, and presented a respiratory dysfunction which was interpreted as pneumonia. He was treated and discharged in good state, and was scheduled for follow-up at the outpatient clinic. One week after discharge, he developed fever, respiratory dysfunction, bleeding, ascite, failure of multiple systems, and died.
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