@article{Rodrigues_Azevedo_Tavares_Rocha_Silva_2016, place={Porto, Portugal}, title={NON-ALCOHOLIC FATTY LIVER DISEASE ASSOCIATED WITH HYPOBETALIPOPROTEINEMIA: REPORT OF THREE CASES AND A NOVEL MUTATION IN APOB GENE}, volume={25}, url={https://revistas.rcaap.pt/nascercrescer/article/view/9524}, DOI={10.25753/BirthGrowthMJ.v25.i2.9524}, abstractNote={<p align="justify"><strong>Background:</strong> 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.</p><p align="justify"><strong>Case Report:</strong> 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.</p><p align="justify"><strong>Conclusion:</strong> Fatty liver disease might be a consequence of hypobetalipoproteinemia. Evidence is scarce due to low number of reported cases.</p>}, number={2}, journal={NASCER E CRESCER - BIRTH AND GROWTH MEDICAL JOURNAL}, author={Rodrigues, Joana and Azevedo, Ana and Tavares, Susana and Rocha, Cristina and Silva, Ermelinda Santos}, year={2016}, month={Jun.}, pages={104–107} }