Navajo Neurohepatopathy

A Native American infant initially presented with increased abdominal girth and a tense abdomen. Laboratory abnormalities included elevated bilirubin. An ultrasound and liver biopsy were performed. Pathology noted decreased mitochondrial quantity, large and numerous lysosomal granules, microvesicular steatosis, and bile canaliculi distention. The patient was referred for genetic testing.