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Effectiveness of Early Hematopoietic Stem Cell Transplantation in Preventing Neurocognitive Decline in Mucopolysaccharidosis Type II: A Case Series

  • A. SelvanathanEmail author
  • C. Ellaway
  • C. Wilson
  • P. Owens
  • P. J. Shaw
  • K. Bhattacharya
Research Report
Part of the JIMD Reports book series (JIMD, volume 41)

Abstract

The early progressive form of the X-linked disorder, Hunter syndrome or mucopolysaccharidosis type II (MPS II) (OMIM #309900), is characterized by cognitive decline, and pulmonary and cardiac complications that often cause death before 20 years of age. Deficiency of the lysosomal enzyme, iduronate-2-sulfatase (EC 3.1.6.13) results in deposition of the glycosaminoglycans, dermatan, and heparan sulfate in various tissues. In recent years, enzyme replacement therapy (ERT) has become the mainstay of treatment, but is expensive and ineffective in arresting cognitive decline. Hematopoietic stem cell transplantation (HSCT) also provides enzyme replacement, and may be effective in stabilizing neurocognitive function if initiated early, though data are limited. We present a case series of four patients who demonstrated neurocognitive stabilization with early HSCT. HSCT is a potentially underutilized treatment strategy for select groups of MPS II patients.

Keywords

Enzyme replacement therapy Hematopoietic stem cell transplant Hunter syndrome Inborn error of metabolism Mucopolysaccharidosis Neurocognitive outcomes 

Abbreviations

ADL

Activities of daily living

ATG

Anti-thymocyte globulin

AUC

Area Under Curve

CNS

Central nervous system

CSF

Cerebrospinal fluid

CT

Computed tomography

DAS-II

Differential Ability Scales, Second Edition

DQ

Developmental quotient

ERT

Enzyme replacement therapy

HLA

Human leukocyte antigen

HSCT

Hematopoietic stem cell transplantation

IDS

Iduronate-2-sulfatase

IQ

Intelligence quotient

MPS

Mucopolysaccharidosis

MPS I

Mucopolysaccharidosis type I (Hurler syndrome)

MPS II

Mucopolysaccharidosis type II (Hunter syndrome)

MRI

Magnetic resonance imaging

WISC-IV

Weschler Intelligence Scale for Children 4th Edition

WPPSI III

Weschler Preschool and Primary Intelligence Scale 3rd Edition

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Copyright information

© Society for the Study of Inborn Errors of Metabolism (SSIEM) 2018

Authors and Affiliations

  • A. Selvanathan
    • 1
    • 2
    Email author
  • C. Ellaway
    • 1
    • 2
  • C. Wilson
    • 3
  • P. Owens
    • 1
  • P. J. Shaw
    • 2
    • 4
  • K. Bhattacharya
    • 1
    • 2
  1. 1.Genetic Metabolic Disorders ServiceThe Children’s Hospital at WestmeadWestmeadAustralia
  2. 2.Discipline of Child and Adolescent HealthThe University of SydneyCamperdownAustralia
  3. 3.Starship Paediatric Metabolic ServiceStarship Children’s HospitalAucklandNew Zealand
  4. 4.Blood and Marrow Transplant ServiceThe Children’s Hospital at WestmeadWestmeadAustralia

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