Type I Glycogen Storage Disease with Focal Nodular Hyperplasia of the Liver and Vasoconstrictive Pulmonary Hypertension

Abstract

In an unusual case, type I glycogen storage disease was complicated by focal nodular hyperplasia of the liver and vasoconstrictive pulmonary hypertension. CASE REPORT The patient was a 16½-year-old girl who had had milk intolerance and hepatomegaly as an infant. A liver biopsy specimen at age 16 months had shown an absence of glucose-6-phosphatase activity. One of the two siblings was similarly affected. Throughout her childhood, the patient consistently demonstrated fasting hypoglycemia and growth retardation. A portocaval shunt performed at age 12 did not improve her growth status; at age 16, she had a bone age of 11. Within a year prior to death, palpable hepatic nodules were discovered and confirmed by liver scan.