Biopsy-proven Hepatocellular Carcinoma in a 53-year-old Woman With Arginase Deficiency

Arginase 1 deficiency, the least common urea cycle disorder, commonly presents with childhood-onset spastic paraplegia, progressive neurologic impairment, epilepsy, and developmental delay or regression. Biopsy-proven cirrhosis and hepatocellular carcinoma diagnosed via clinical and imaging studies (but without biopsy confirmation) have been previously reported. We report, herein, a case of a 53-year-old woman with arginase 1 deficiency who developed symptoms of abdominal bloating.'' Imaging studies (ultrasound and magnetic resonance imaging) demonstrated 2 dominant hepatic masses, measuring 5.9 cm and 5.7 cm in greatest dimensions and located in hepatic segments 5 and 6, respectively. Core biopsies of the lesions demonstrated well-differentiated hepatocellular carcinoma. Immunohistochemistry performed on the segment 5 lesion was negative for arginase 1. This report represents, to the best of our knowledge, the first case of biopsy-proven hepatocellular carcinoma in an individual with arginase 1 deficiency.