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Continued neurocognitive development and prevention of cardiopulmonary complications after successful BMT for I-cell disease: a long-term follow-up report

Bone Marrow Transplantation volume 32, pages 957–960 (2003)Cite this article

Summary:

I-cell disease or mucolipidosis type II, a rare inherited storage disorder of lysosomal enzyme localization, is characterized by dysostosis multiplex, progressive severe psychomotor retardation and death by 5–8 years from congestive heart failure and recurrent pulmonary infections. A 19-month old girl with I-cell disease received a bone marrow transplant (BMT) from an HLA-identical carrier brother. At the age of 7 years, 5 years after BMT, she has no history of respiratory infections. Her cardiac function remains normal with a shortening fraction of 47%, and she continues to gain neurodevelopmental milestones, albeit at a very slow rate. Musculoskeletal deformities have worsened despite BMT. This is the first report describing neurodevelopmental gains and prevention of cardiopulmonary complications in I-cell disease after BMT.

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References

  1. Leroy JG, Spranger JW, Feingold M et al. I-cell disease: a clinical picture. J Pediatr 1971; 79: 360–365.

    Article  CAS  PubMed  Google Scholar 

  2. Kornfeld S, Sly WS . I-cell disease and pseudo-Hurler polydystrophy: disorders of lysosomal enzyme phosphorylation and localization. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds). The Metabolic and Molecular Bases of Inherited Disease, 8th edn. McGraw-Hill: New York, 2001, pp 3469–3482.

    Google Scholar 

  3. Patriquin HB, Kaplan P, Kind HP et al. Neonatal mucolipidosis II (I-cell disease): clinical and radiologic features in three cases. AJR Am J Roentgenol 1977; 129: 37–43.

    Article  CAS  PubMed  Google Scholar 

  4. Hille-Rehfeld A . Mannose 6-phosphate receptors in sorting and transport of lysosomal enzymes. Biochim Biophys Acta 1995; 1241: 177–194.

    Article  PubMed  Google Scholar 

  5. Hickman S, Neufeld EF . A hypothesis for I-cell disease: defective hydrolases that do not enter lysosomes. Biochem Biophys Res Commun 1972; 49: 992–999.

    Article  CAS  PubMed  Google Scholar 

  6. Burgess J, Traycoff C, Hardwick A et al. Separation of clinical quantities of CD34+ cells from human marrow using immunomagnetic procedures. Prog Clin Biol Res 1994; 389: 293–302.

    CAS  PubMed  Google Scholar 

  7. Kurobane I, Inoue S, Gotoh Y et al. Biochemical improvement after treatment by bone marrow transplantation in I-cell disease. Tohoku J Exp Med 1986; 150: 63–68.

    Article  CAS  PubMed  Google Scholar 

  8. Imaizumi M, Gushi K, Kurobane I et al. Long-term effects of bone marrow transplantation for inborn errors of metabolism: a study of four patients with lysosomal storage diseases. Acta Paediatr Jpn 1994; 36: 30–36.

    Article  CAS  PubMed  Google Scholar 

  9. Peters C, Shapiro EG, Anderson J et al. Hurler syndrome: II. Outcome of HLA-genotypically identical sibling and HLA-haploidentical related donor bone marrow transplantation in fifty-four children. The storage disease collaborative study group. Blood 1998; 91: 2601–2608.

    CAS  PubMed  Google Scholar 

  10. Peters C, Balthazor M, Shapiro EG et al. Outcome of unrelated donor bone marrow transplantation in 40 children with Hurler syndrome. Blood 1996; 87: 4894–4902.

    CAS  PubMed  Google Scholar 

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Authors and Affiliations

  1. Division of Pediatric Blood and Marrow Transplantation, University of Minnesota, Minneapolis, MN, USA

    S Grewal, W Krivit, P Orchard & C Peters

  2. Pediatric Neuropsychology, University of Minnesota, Minneapolis, MN, USA

    E Shapiro

  3. Pediatric Cardiology, University of Minnesota, Minneapolis, MN, USA

    E Braunlin

  4. Pediatric Neurology, University of Minnesota, Minneapolis, MN, USA

    L Charnas

Authors
  1. S Grewal
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  2. E Shapiro
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  3. E Braunlin
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  4. L Charnas
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  5. W Krivit
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  6. P Orchard
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  7. C Peters
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Correspondence to S Grewal.

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Grewal, S., Shapiro, E., Braunlin, E. et al. Continued neurocognitive development and prevention of cardiopulmonary complications after successful BMT for I-cell disease: a long-term follow-up report. Bone Marrow Transplant 32, 957–960 (2003). https://doi.org/10.1038/sj.bmt.1704249

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