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Progression of organ manifestations upon enzyme replacement therapy in a patient with mucopolysaccharidosis type I/Hurler

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Abstract

Background

Enzyme replacement therapy (ERT) has been increasingly used as an interim treatment in severe mucopolysaccharidosis type I (MPSI)/Hurler patients prior to hematopoietic stem cell transplantation (HSCT).

Methods

We present the outcome of a patient with MPSI/Hurler after 14 months of ERT prior to HSCT.

Results

Urinary glucosaminoglycan excretion decreased by 70% after one month of ERT. Liver volume decreased by 14% of baseline after 12 months of ERT. Pre-existing thoracolumbar kyphosis progressed to thoracolumbar dislocation with complete displacement of facets after 12 months of ERT. New development of mitral valve thickening was found by echocardiography and mild hearing loss progressed to severe sensorineural hearing loss after 13 months of ERT.

Conclusions

ERT over a period of 14 months did not prevent progression of organ manifestations in our patient. Patients should be monitored every 6 months for cardiac, skeletal and audiological involvement on ERT.

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Authors and Affiliations

  1. Division of Biochemical Diseases, Department of Pediatrics, British Columbia Children’s Hospital, Vancouver, Canada

    Saadet Mercimek-Mahmutoglu & Sylvia Stoeckler-Ipsiroglu

  2. Department of Orthopedics, British Columbia Children’s Hospital, Vancouver, Canada

    Christopher Reilly

  3. Division of Cardiology, Department of Pediatrics, Vancouver, British Columbia, Canada

    Derek Human

  4. Biochemical Genetics Laboratory, Department of Pathology and Laboratory Medicine, British Columbia Children’s Hospital, Vancouver, Canada

    Paula J. Waters

  5. Division of Biochemical Genetic Diseases, British Columbia Children’s Hospital, Room K3-208, ACB, 4480 Oak Street, Vancouver, B.C., Canada, V6H 3V4

    Saadet Mercimek-Mahmutoglu

Authors
  1. Saadet Mercimek-Mahmutoglu
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  2. Christopher Reilly
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  3. Derek Human
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  4. Paula J. Waters
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  5. Sylvia Stoeckler-Ipsiroglu
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Correspondence to Saadet Mercimek-Mahmutoglu.

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Mercimek-Mahmutoglu, S., Reilly, C., Human, D. et al. Progression of organ manifestations upon enzyme replacement therapy in a patient with mucopolysaccharidosis type I/Hurler. World J Pediatr 5, 319–321 (2009). https://doi.org/10.1007/s12519-009-0062-x

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  • DOI: https://doi.org/10.1007/s12519-009-0062-x

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