Multidisciplinary Team Approach Is Key for Managing Pregnancy and Delivery in Patient with Rare, Complex MPS I

  • J. TrokoEmail author
  • Y. Poonawala
  • T. Geberhiwot
  • B. Martin
Case Report
Part of the JIMD Reports book series (JIMD, volume 30)


A 23-year-old primiparous lady (Ms S) was referred to preconception clinic with known Hurler–Scheie syndrome (mucopolysaccharidosis 1). Ms S had been under the care of the adult inherited metabolic disorder physicians prior to becoming pregnant. She and her partner received prenatal counselling and following spontaneous conception was closely managed by a multidisciplinary team involving foetomaternal obstetricians, anaesthetists, cardiologists, geneticists and endocrinologists in two tertiary referral hospitals throughout her pregnancy. She went on to deliver a live male child at 37/40 by elective caesarean section. As far as we are aware, this is the first case report of a term pregnancy in a woman with moderate to severe mucopolysaccharidosis 1 (MPS 1).


Force Vital Capacity Carpal Tunnel Syndrome Enzyme Replacement Therapy Cord Blood Sample Restrictive Lung Disease 
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Many thanks to Tony Whitehouse and Katherine Pearce for their help with this paper.


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Copyright information

© SSIEM and Springer-Verlag Berlin Heidelberg 2016

Authors and Affiliations

  • J. Troko
    • 1
    Email author
  • Y. Poonawala
    • 1
  • T. Geberhiwot
    • 2
  • B. Martin
    • 1
  1. 1.Birmingham Women’s HospitalBirminghamUK
  2. 2.University of Birmingham and Queen Elizabeth Medical CentreBirminghamUK

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