The International Journal of Romanian Society of Endocrinology / Registered in 1938

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January - March 2023, Volume 19, Issue 1
Case Report

Turgut E, Taner Z, Bayram M, Karcaaltincaba D

Successful Pregnancy Outcome in Patient with Niemann-Pick Disease Type B and Review of the Literature

Acta Endo (Buc) 2023, 19 (1): 108-111
doi: 10.4183/aeb.2023.108

Niemann-Pick disease (NPD), is a rare autosomal recessive lysosomal storage disorder. Niemann-Pick A and B are caused by homozygous or compound heterozygous mutations in the sphingomyelin phosphodiesterase-1 (SMPD1) gene on chromosome 11p15. Type B is panethnic, although its frequency is increased in Turkish, Arabic and North African populations. Clinical features vary significantly among patients. It is a rare condition and information about its management an outcome during pregnancy and labor is limited. Both maternal mortality and morbidity due to severe postpartum hemorrhage has been reported. We represent a case of successful pregnancy outcome in patient with NPD type B. Type of mutations in SMPD 1 gene and severity of disease before pregnancy can predict the prognosis of pregnancy.

Keywords: Niemann-Pick disease, SMPD 1 gene, Pregnancy.

Correspondence: Ezgi Turgut, Gazi University, School of Medicine, Department of Obstetrics and Gynecology, Ankara, Turkey, E-mail: