Bardet-Biedl Syndrome Caused by Skipping of <i>SCLT1</i> Complicated by Microvesicular Steatohepatitis

Abstract

We treated the case of a 22-year-old male patient with liver dysfunction. At 1 year of age, hepatic fibrosis was suspected. In addition, due to the presence of retinitis pigmentosa, renal failure, obesity, mental retardation, and hypogonadism, he was diagnosed with Bardet-Biedl syndrome (BBS). Skipping of exons 14 and 17 in the sodium channel and clathrin linker 1 ( SCLT1 ) gene was observed. At 22 years of age, the liver enzyme levels were further elevated and a diagnosis of microvesicular steatohepatitis was made. Insulin resistance, a reduction of muscle mass, an impairment of the fatty acid metabolism, and hyperleptinemia in this syndrome may cause steatohepatitis.

Bardet-Biedl syndrome and hepatosplenomegaly: A case report of a rare presentation

“…A liver biopsy was not performed because it was denied by the patient and because it would not have elucidated the etiology of the disease in this specific case. In medical literature, patients with hepatic involvement presented portal hypertension and non-alcoholic steatohepatitis associated with classic organ involvement, thus allowing clinical suspicion [1,16,17]. The patient in the reported case meets only two major criteria: Cognitive retardation and central obesity associated with liver disease and developmental delay.…”

“…Liver involvement is rare and studies are still required in order to elucidate the pathogenic mechanism. There are records of a case of microvesicular steatohepatitis in a patient with a genetic alteration in the skipping of exons 14 and 17 in the sodium channel and Claritin ligand 1 [16]. Fatty liver disease can be secondary to obesity [11].…”