SUCCESSFUL PREGNANCY OUTCOME IN PATIENT WITH NIEMANN-PICK DISEASE TYPE B AND REVIEW OF THE LITERATURE.

Abstract

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.

• Authors: E Turgut, Z Taner, M Bayram, D Karçaaltincaba
• Journal: Acta endocrinologica (Bucharest, Romania : 2005) (Acta Endocrinol (Buchar)) 2023 Jan-Mar Vol. 19 Issue 1 Pg. 108-111 ISSN: 1841-0987 [Print] Romania
• PMID: 37601707 (Publication Type: Case Reports)
• Copyright: ©2023 Acta Endocrinologica (Buc).