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Successful Outcome of Pregnancy in Niemann-Pick Disease Type B: A Case Report and Review of Literature.
Journal of Obstetrics and Gynaecology of India 2022 December
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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