Successful Outcome of Pregnancy in Niemann-Pick Disease Type B: A Case Report and Review of Literature

尼曼-匹克病B型患者妊娠成功:病例报告及文献综述

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Abstract

Niemann-Pick (NPD) is a rare autosomal recessive disease, caused by deficiency of acid sphingomyelinase enzyme leading to accumulation of lipids mainly in the reticuloendothelial system and lungs. We describe the case of a 29-year-old primigravida, recently diagnosed with NPD type B. At initial evaluation, her platelets were normal, liver enzymes slightly elevated and splenomegaly on scan. Pregnancy care was by a multidisciplinary team which routinely monitored her liver and pulmonary functions along with platelets. Labor was induced at 37 + 1 weeks of gestation because of fetal growth restriction. She underwent an cesarean section for failed induction and delivered a healthy male baby. Conclusion: Successful outcomes in such pregnancies depend upon close monitoring by a multidisciplinary team.

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