Neurofibromatosis (NF) is a genetically determined disorder that may present with a wide range of clinical problems. It is inherited as an autosomal dominant gene with variable penetrance.' According to the recommendations of the National Institutes of Health Consensus Development Conference,' NF has two distinct forms. NF1, or Von Recklinghausen disease, is the more common form. It is characterized by cafe au lait spots, skin fold freckles, and cutaneous neurofibromas. Other manifestations include dysplasia of long bones, optic gliomas, iris lisch nodules, and plexiform neurofibromas. NF2 is characterized by the development of acoustic neuromas, meningiomas, schwannomas, gliomas, and juvenile posterior subcapsular lenticular ~p a c i t y . ~
The gene for NF1 has been localized to chromosome number 17, whereas the gene to NF2 has been localized to chromosome number 22.4,5 The manifestations of NF1 are variable and depend on the organ involved. Visceral involvement is uncommon. Hepatobiliary involvement in NF1 is even more unusual.' We report a case of plexiform NF of the liver in a patient with NF1, discuss the differential diagnosis of abdominal pain in these patients, and provide management recommendations for these tumors.
CASE REPORT
KD is a 30-year-old white female with NF1 who was referred for evaluation of a liver mass. NF1 was diagnosed in childhood and was manifested as multiple cutaneous neurofibromas over the entire body. She also has a history of recurrent seizures that are well controlled on carbamazepine. The patient described intermittent right upper quadrant abdominal pain for 1 year. The pain was aching in nature and lasted for several days at a time. Empiric therapy with fiber and antispasmotics was unsuccessful. Physical examination was