Duchenne and Becker muscular dystrophy presenting as nonalcoholic fatty liver disease.

JPGN Volume 53, N N onalcoholic fatty liver disease (NAFLD) encompasses a wide spectrum of conditions ranging from simple steatosis to steatohepatitis and liver cirrhosis (1). It is the most common liver disorder in the pediatric age group, paralleling the epidemic of obesity (2,3). Duchenne and Becker muscular dystrophy (DBMD) is often characterized in the early stage by central obesity and increased muscular fat content (4). We report on the first case of biopsy-proven NAFLD in a patient with DBMD to emphasize the relation between these 2 conditions as well as the peculiar weightloss management. The patient, a 9-year-old Italian boy, was born at the 32nd week of gestation. His clinical history, including the achievements of motor milestones, was uneventful up to the age of 7 years, when he complained of mild and ill-defined general asthenia. Because of this, he underwent routine laboratory examinations. The only reported abnormal laboratory tests were the increased serum levels of alanine aminotransferase (ALT) and aspartate aminotransferase (AST) (3 times upper normal values [unv] for both enzymes). He was then hospitalized because of the persistence of isolated hypertransaminasemia for approximately 1 year (levels ranging from 4 to 6 times unv for AST and from 3 to 5 times unv for ALT). Laboratory tests performed to exclude the most common viral and autoimmune causes of liver diseases were within normal limits. Ultrasonography of the liver showed a bright pattern compatible with steatosis, which was also confirmed at histology after needle liver biopsy (Fig. 1). Because of his obesity (both body mass index [BMI] and weight/height [W/H] ratio >95th percentile) and excessive caloric intake, a slimming diet was prescribed. Four months after starting the diet he lost some weight (4.2 kg, 8% of basal weight) and ultrasonographic liver brightness decreased. Hypertransaminasemia, however, remained unchanged (AST and ALT 5 and 4 times unv, respectively). The patient was therefore referred to our pediatric liver unit at the age of 8 years 10 months. His mother and father were obese and overweight, respectively. His mother presented with a pattern of insulin resistance (HOMA 2.9) without other components of the metabolic syndrome, and his father had borderline HOMA (2.4). Both parents had normal serum aminotransferase levels and a recently performed abdominal ultrasonography without liver brightness. At physical examination,