Case report and discussion of pregnancy in a woman with Labrune syndrome and neurofibromatosis type 1

病例报告及对患有拉布伦综合征和1型神经纤维瘤病女性妊娠的讨论

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Abstract

Labrune syndrome is a rare neurological autosomal recessive condition characterised by leukoencephalopathy, cerebral calcification and parenchymal cysts. Pregnancy has not been previously reported in an individual with this condition. This case report details the pregnancy of a primiparous woman with Labrune syndrome and neurofibromatosis type 1 who experienced a seizure in the second trimester of pregnancy, but went on to deliver her baby at term with good outcome for mother and baby. The case highlights the importance of pre-pregnancy advice in women with genetic conditions, and a multidisciplinary approach to the care of women with rare and complicated medical conditions during pregnancy.

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