Niemann Pick disease and pregnancy

By Raja Faleh, Amina Mnejja, Dhekra Toumi

Acid sphingomyelinase (ASM) (sphingomyelin phosphodiesterase; EC 3.1.4.12) deficiency is an inborn error of metabolism that leads to the accumulation of sphingomyelin in cells and tissues and causes the clinical condition known as Niemann-Pick disease. We report the case of an AB patient followed for Niemann Pick disease since childhood. She had an emergency caesarean section at 38 weeks for a post-traumatic retroplacental haematoma. Uterine atony controlled by medical treatment. Simple postoperative course. Since the discovery of the first Niemann Pick patients over a century ago, enormous progress has been made in deciphering the pathophysiology of this disease and in developing new treatments.

• Format: Paperback
• Language: English
• ISBN: 6207848845
• ISBN13: 9786207848843
• Release Date: July 2024
• Publisher: Our Knowledge Publishing
• Length: 52 Pages
• Weight: 0.20 lbs.
• Dimensions: 0.1" x 6.0" x 9.0"