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Neurofibromatosis NF1 is an autosomal dominant disorder primarily affecting the development and growth of nerve cell tissues. We report a rare case of pregnancy with giant plexiform neurofibroma involving the genital tract with adverse perinatal outcome. A 26-year-old female presented at term in labour with NF1 and a huge plexiform neurofibroma arising from sacral region, gluteal region, pelvis and involving left labium majus. She delivered by cesarean section and the baby had congenital NF1. The baby expired on day 4 of life. To the best of our knowledge, this large size neurofibroma involving this site in pregnancy has never been reported in English literature. Both pregnancy and NF1 have reciprocal adverse effects on each other. Congenital neurofibromatosis can be fatal. Hence, all pregnancies associated with NF1 should be considered as high risk and monitored carefully.


Plexiform Neurofibromatosis, Congenital Neurofibromatosis, Stillbirth, Perinatal Outcome, Elephantiasis Neurofibromatosa, Neurofibromas

Cite this paper

Gupta, M. , Gupta, V. , Sapre, K. , Sharma, S. and Matreja, P. 2014 Pregnancy with Elephantiasis Neurofibromatosa—A Rare Presentation. Open Access Library Journal, 1, 1-5. doi: 10.4236-oalib.1100985.

Autor: Monika Gupta1*, Vipan Gupta2, Kamini Sapre3, Sushmita Sharma4, Prithpal S. Matreja5*



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