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Maternal Medicine Posters
Neurofibromatosis type1 and pregnancy
  1. S Islam
  1. Calderdale Royal Hospital, Halifax, United Kingdom


Introduction and background Neurofibromatosis (NF) is a genetic disease that affects multiple organ systems. NF Type I (von Recklinghausen disease) is an autosomal dominant condition caused by mutation in NF1 tumour suppressor gene on chromosome17. There are different opinions about the implications of neurofibromatosis on pregnancy. Some authors have suggested an increased frequency of obstetric complications such as spontaneous miscarriage, preterm delivery, preeclampsia, intrauterine growth restriction, stillbirths and increased rate of caesarean section. However, others suggested that NF1 may not be associated with significant obstetric complications and may have normal pregnancy outcome. Pregnancy sometimes corresponds period of disease progression when cutaneous lesions might increase in size and number.

Case summary We managed a 33 years old woman with type1 neurofibromatosis in her first pregnancy. She had café au lait patches and extensive cutaneous neurofibromata. An MRI showed multiple pelvic lesions and lesions within the spinal canal and foramina of all lower thoracic and lumbar vertebrae. She was reviewed by anaesthetists. It was suggested that if exit foramina are avoided regional analgesia should be safe for her. Due to aggravation of skin lesions the patient had induction of labour at 40weeks of gestation. She was seen by surgeons to assess risk of bleeding from perineal lesions it case of a perineal tear/episiotomy. She delivered vaginally a healthy male baby weighing 3.2kg with no problems.

Conclusion This case shows that careful planning and multidisciplinary management can ensure normal obstetric outcome despite the aggravation of skin and pelvic lesions during pregnancy.

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