Author(s): Rodrigues, Joana ; Azevedo, Ana ; Tavares, Susana ; Rocha, Cristina ; Silva, Ermelinda Santos
Date: 2016
Persistent ID: http://hdl.handle.net/10400.16/1949
Origin: Repositório Científico da Unidade Local de Saúde de Santo António (ULSSA)
Subject(s): Gene APOB; Criança; Hipobetalipoproteinemia familiar; Fígado gordo não alcoólico; Esteatohepatite não alcoólica
Background: Non-alcoholic fatty liver disease, the leading cause of chronic liver disease in children, is defined by hepatic fat infiltration >5% of hepatocytes, in the absence of excessive alcohol intake, evidence of viral, autoimmune or drug-induced liver disease. Conditions like rare genetic disorders must be considered in the differential diagnosis. Case Report: Two male brothers, and a non-related girl, all overweight, had liver steatosis. One of the brothers and the girl had elevated transaminases; all three presented with low total cholesterol, low density lipoproteins and very low density lipoproteins cholesterol levels, hypotriglyceridemia and low apolipoprotein B. A liver biopsy performed in the brother with citolysis confirmed steatohepatitis and the molecular study of apolipoprotein B gene showed a novel homozygous mutation (c.9353dup p.Asn3118Lysfs17). Patients with cytolysis lost weight, however liver steatosis persists. Conclusion: Fatty liver disease might be a consequence of hypobetalipoproteinemia. Evidence is scarce due to low number of reported cases.
