Neurofibromatosis type 1 and pregnancy outcome: A case report

Abstract

Background: Neurofibromatosis is a genetic disorder with high variability of clinical expression. Cutaneous manifestations such as café-au-lait spots, freckling patterns, and dermal neurofibromas, are the most distinguishable and common signs appearing in the vast majority of individuals with NF-1. Instances where a patient is both pregnant and affected with neurofibromatosis are less common and the information about the maternal-fetal outcomes are mainly from case reports in the literature. Case presentation: A 33-year-old multiparous pregnant patient affected by NF-1 presented to the Obstetrics and Gynecology Clinic in Prishtina in Kosovo in the 36th week of pregnancy. The patient displayed signs of NF-1 exemplified by the growth of existing neurofibromas and the development of new ones. In addition, the patient experienced a placental abruption which is a life-threatening obstetrical complication rarely reported in the literature as a complication associated with maternal NF-1. An emergent cesarean section was performed and a healthy neonate unaffected by NF-1 was born. Conclusions: Pregnant patients with NF-1 are prone to the worsening of NF-1 symptoms and obstetrical complications. Increased antenatal care for these patients is recommended to ensure the well-being of the mother and fetus.