Neurofibromatosis type 1 and masses of the appendix: A case report

BACKGROUND: Neurofibromatosis type 1 is an autosomal dominant disease with high penetrance, affecting 1:3,000 pregnancies. Meningiomas and other benign central nervous system tumors, such as ependymomas, are common features. CASE: A patient with neurofibromatosis underwent cesarean section due to intrauterine growth restriction and nonreassuring fetal heart rate patterns. Examination of the abdominal cavity and intestines revealed a large (diameter, 12 cm), rubbery, fibrin-coated appendicular mass. The appendix was removed, and pathologic analysis confirmed the diagnosis of neuroma of the appendix. Our case... demonstrates the potential complex management of pregnancy in patients with neurofibromatosis, stressing the need for close antenatal care. CONCLUSION: The case stresses the importance of careful inspection and evaluation of the abdominal cavity during surgery on patients with neurofibromatosis for the detection of possible associated masses.