RESUMO
Acquired chronic hepatocerebral degeneration (CAHD) is a rare and irreversible neurological disorder that can occur in patients with chronic liver disease. It is characterized by neurological symptoms similar to parkinsonism and the presence of brain damage secondary to manganese deposition. We present the case of a 60-year-old patient with episodes of recurrent hepatic encephalopathy and diagnosis of CAHD.
RESUMO
Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of autosomal recessive disorders resulting from mutations in genes involved in bile secretion, characterized by chronic cholestasis. The onset is typically in early childhood, with main clinical manifestations including jaundice, pruritus, and symptoms related to malabsorption, which can rapidly progress to liver failure. We present a case of PFIC secondary to myosin 5B mutations.