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Revista Pan-Amazônica de Saúde

versão impressa ISSN 2176-6215versão On-line ISSN 2176-6223

Resumo

AMARAL, Ivanete do Socorro Abraçado et al. Case report: Niemann-Pick disease with liver failure manifestations. Rev Pan-Amaz Saude [online]. 2010, vol.1, n.3, pp.129-132. ISSN 2176-6215.  http://dx.doi.org/10.5123/S2176-62232010000300017.

OBJECTIVE: To report the case of a patient with Niemann-Pick disease who developed chronic liver failure, and to thus draw attention to this nosological entity. CASE REPORT: A female patient, 34 years of age, presented with splenomegaly and was referred to the Fundação Santa Casa de Misericórdia do Pará hospital, in the City of Belém, Pará State, Brazil, with a diagnosis of Niemann-Pick disease confirmed by enzymatic dosages for investigation of her liver disease. The patient developed cirrhosis after five years with decompensated chronic liver failure and was referred for liver transplantation. FINAL CONSIDERATIONS: It is noted that this disease, although rare, can be a cause of chronic liver disease and should be diagnosed early, as the patient's life expectancy depends on the magnitude and impact of the symptoms.

Palavras-chave : Niemann-Pick Diseases; Sphingomyelin Phosphodiesterase; Splenomegaly.

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