Abstract :
Neurofibromatosis type 1 (NF-1), or von Recklinghausen disease, is an autosomal dominant disorder caused by mutations in the NF1 gene. It is characterized by cutaneous neurofibromas, café-au-lait spots, axillary/inguinal freckling, and variable systemic involvement. While NF-1 is typically diagnosed in childhood, its course and implications during pregnancy are not well understood due to limited case reports. We present a case of a 25-year-old multigravida (G3P1L1A1) with a known clinical diagnosis of NF-1, who exhibited progressive cutaneous neurofibroma growth during pregnancy. She presented at 24 weeks’ gestation for routine antenatal care. Examination revealed multiple non-tender neurofibromas, café-au-lait spots, and palmo-plantar freckling without neurological or skeletal involvement. The lesions increased in size and number throughout gestation, particularly over her previous cesarean scar. A repeat elective lower segment cesarean section was performed at 38 weeks under general anesthesia due to extensive spinal lesions. A healthy female infant (2.475 kg, APGAR 8/10 and 9/10) was delivered with no apparent NF-1 features. Postpartum follow-up revealed significant regression of the maternal lesions within 4–6 weeks. This case highlights the impact of pregnancy-induced hormonal and immunological changes on NF-1 lesion progression. Elevated estrogen and progesterone may stimulate neurofibroma growth, which typically regresses postpartum. Anesthetic and surgical management in such patients pose unique challenges due to lesion location and potential complications. The case underscores the importance of multidisciplinary care and the need for genetic counseling, considering the 50% inheritance risk. NF-1 can exhibit significant progression during pregnancy, requiring tailored antenatal and peripartum management. Awareness of these changes, along with genetic counseling and postpartum follow-up, is essential to optimize maternal and fetal outcomes.
Keyword :
Neurofibromatosis type 1, Pregnancy, Hormonal changes, Cesarean section, Cutaneous neurofibromas, Postpartum regression, Multidisciplinary management.