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.
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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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Communicated by: Verena Peters
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Synopsis
Hematopoietic stem cell transplantation is an under-recognized but effective therapy that stabilizes neurocognitive function in patients with mucopolysaccharidosis type II.
Contributions of Authors
Arthavan Selvanathan: planning of project, retrieving and analyzing files, performing literature review, creating initial draft of the chapter, editing the chapter, submission process, correspondence with journal.
Carolyn Ellaway: planning of project, submission of ethics approval, clinical management of patients, analyzing files, editing the chapter.
Callum Wilson: clinical management of patients, analyzing medical records, editing the chapter.
Penny Owens: clinical management of patients, editing the chapter.
Peter Shaw: planning of project, clinical management of patients, analyzing files, editing the chapter.
Kaustuv Bhattacharya: planning of project, clinical management of patients, analyzing files, editing the chapter.
Compliance with Ethics Guidelines
Ethics approval was granted by the Sydney Children’s Hospital Network Research Ethics and Governance Team (HREC Reference Number: CCR2016/09). All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from all patients’ families in order to review medical records, and publish their cases anonymized.
Correspondence and Statement of Competing Interests
I, Arthavan Selvanathan, serve as corresponding author and guarantor for this chapter. None of the authors have received or accepted reimbursements or funding in relation to the material in this chapter.
All authors (Arthavan Selvanathan, Carolyn Ellaway, Callum Wilson, Penny Owens, Peter Shaw and Kaustuv Bhattacharya) declare they have no conflicts of interest.
Competing Interests: None declared.
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Selvanathan, A., Ellaway, C., Wilson, C., Owens, P., Shaw, P.J., Bhattacharya, K. (2018). Effectiveness of Early Hematopoietic Stem Cell Transplantation in Preventing Neurocognitive Decline in Mucopolysaccharidosis Type II: A Case Series. In: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (eds) JIMD Reports, Volume 41. JIMD Reports, vol 41. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2018_104
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DOI: https://doi.org/10.1007/8904_2018_104
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