Mucopolysaccharidosis Follow-up

  • Author: Tarek Bittar, MD; Chief Editor: Dennis P Grogan, MD   more...
 
Updated: Aug 10, 2010
 

Complications

  • Hearing loss
  • Joint stiffness
  • Hydrocephalus
  • Corneal clouding
  • Cardiovascular disease
  • Obstructive airway disease
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Prognosis

  • The prognosis varies depending on the type of MPS. Most of these patients have shortened life spans, and some of them die in infancy (see Physical).
  • Bone marrow transplantation has some positive effects systemically, such as reduction in hepatosplenomegaly, airway obstruction, and cardiopulmonary disease. These effects have resulted in improved life span, and many of these patients survive beyond the first decade of life.
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Contributor Information and Disclosures
Author

Tarek Bittar, MD  Staff Physician, Department of Orthopedic Surgery, Martin Luther King Medical Center

Tarek Bittar, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons

Disclosure: Nothing to disclose.

Coauthor(s)

Eleby R Washington III, MD, FACS  Associate Professor, Department of Surgery, Division of Orthopedics, Charles R Drew University of Medicine and Science

Eleby R Washington III, MD, FACS is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American College of Surgeons, American Medical Association, International College of Surgeons, and National Medical Association

Disclosure: Nothing to disclose.

Specialty Editor Board

Charles T Mehlman, DO, MPH  Professor of Pediatrics and Pediatric Orthopedic Surgery, Division of Pediatric Orthopedic Surgery, Director, Musculoskeletal Outcomes Research, Cincinnati Children's Hospital Medical Center

Charles T Mehlman, DO, MPH is a member of the following medical societies: American Academy of Pediatrics, American Fracture Association, American Medical Association, American Orthopaedic Foot and Ankle Society, American Osteopathic Association, Arthroscopy Association of North America, North American Spine Society, Ohio State Medical Association, Pediatric Orthopaedic Society of North America, and Scoliosis Research Society

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD  Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: eMedicine Salary Employment

George H Thompson, MD  Director, Pediatric Orthopedics, Rainbow Babies and Children's Hospital

George H Thompson, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American Orthopaedic Association, Pediatric Orthopaedic Society of North America, and Scoliosis Research Society

Disclosure: OrthoPediatrics None Consulting; Journal of Pediatric Orthopaedics Salary Management position

Dinesh Patel, MD, FACS  Associate Clinical Professor of Orthopedic Surgery, Harvard Medical School; Chief of Arthroscopic Surgery, Department of Orthopedic Surgery, Massachusetts General Hospital

Dinesh Patel, MD, FACS is a member of the following medical societies: American Academy of Orthopaedic Surgeons

Disclosure: Nothing to disclose.

Chief Editor

Dennis P Grogan, MD  Clinical Professor, Department of Orthopedic Surgery, University of South Florida College of Medicine; Chief of Staff, Department of Orthopedic Surgery, Shriners Hospital for Children of Tampa

Dennis P Grogan, MD is a member of the following medical societies: American Academy of Orthopaedic Surgeons, American Medical Association, American Orthopaedic Association, American Orthopaedic Foot and Ankle Society, Eastern Orthopaedic Association, Irish American Orthopaedic Society, Pediatric Orthopaedic Society of North America, and Scoliosis Research Society

Disclosure: Nothing to disclose.

References

  1. Bassyouni HT, Afifi HH, el-Awadi MK. Mucopolysaccharidosis type I: clinical and biochemical study. East Mediterr Health J. Mar-May 2000;6(2-3):359-66. [Medline].

  2. Jones KL. Storage disorders. In: Smith's Recognizable Patterns of Human Malformation. Philadelphia, Pa: WB Saunders Co; 1997:456-471.

  3. Muenzer J. Mucopolysaccharidoses. Adv Pediatr. 1986;33:269-302. [Medline].

  4. Tandon V, Williamson JB, Cowie RA. Spinal problems in mucopolysaccharidosis I (Hurler syndrome). J Bone Joint Surg Br. Nov 1996;78(6):938-44. [Medline].

  5. Masterson EL, Murphy PG, O'Meara A, Moore DP, Dowling FE, Fogarty EE. Hip dysplasia in Hurler's syndrome: orthopaedic management after bone marrow transplantation. J Pediatr Orthop. Nov-Dec 1996;16(6):731-3. [Medline].

  6. Dupont C, Hachem CE, Harchaoui S, Ribault V, Amiour M, Guillot M. [Hurler syndrome: Early diagnosis and successful enzyme replacement therapy: A new therapeutic approach. Case report.]. Arch Pediatr. Jan 2008;15(1):45-49. [Medline].

  7. Martin R, Beck M, Eng C, Giugliani R, Harmatz P, Muñoz V. Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome). Pediatrics. Feb 2008;121(2):e377-86. [Medline].

  8. Wraith JE, Scarpa M, Beck M, Bodamer OA, De Meirleir L, Guffon N. Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy. Eur J Pediatr. Mar 2008;167(3):267-277. [Medline].

  9. Menkès CJ, Rondot P. Idiopathic osteonecrosis of femur in adult Morquio type B disease. J Rheumatol. Nov 2007;34(11):2314-6. [Medline].

  10. Tolar J, Grewal SS, Bjoraker KJ, Whitley CB, Shapiro EG, Charnas L. Combination of enzyme replacement and hematopoietic stem cell transplantation as therapy for Hurler syndrome. Bone Marrow Transplant. Nov 26 2007;[Medline].

  11. Chan YL, Lin SP, Man TT. Clinical experience in anesthetic management for children with mucopolysaccharidoses: Report of ten cases. Acta Paediatr Taiwan. Sep-Oct 2001;42(5):306-8. [Medline].

  12. Tomatsu S, Montaño AM, Ohashi A, Oikawa H, Oguma T, Dung VC. Enzyme replacement therapy in a murine model of Morquio A syndrome. Hum Mol Genet. Dec 3 2007;[Medline].

  13. Guffon N, Souillet G, Maire I, et al. Follow-up of nine patients with Hurler syndrome after bone marrow transplantation. J Pediatr. Jul 1998;133(1):119-25. [Medline].

  14. Clarke LA. Idursulfase for the treatment of mucopolysaccharidosis II. Expert Opin Pharmacother. Feb 2008;9(2):311-7. [Medline].

  15. Kasper DC, Iqbal F, Dvorakova L, Zeman J, Magner M, Bodamer O, et al. Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of alpha-l-iduronidase mutations causing mucopolysaccharidosis type I. Clin Chim Acta. Mar 2010;411(5-6):345-50. [Medline].

  16. Kottler U, Demir D, Schmidtmann I, Beck M, Pitz S. Central Corneal Thickness in Mucopolysaccharidosis II and VI. Cornea. Mar 2010;29(3):260-2. [Medline].

 
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An 8-year-old boy with Morquio syndrome and severe kyphoscoliosis. Courtesy of Dennis P. Grogan, MD.
A 7-year-old girl with Morquio syndrome and typical severe genu valgum. Courtesy of Dennis P. Grogan, MD.
Morquio syndrome; widened bases of phalanges with osteopenia. Courtesy of Bruce M. Rothschild, MD.
Morquio syndrome; lateral radiograph of thoracolumbar vertebrae illustrates vertebral body beaking. Courtesy of Bruce M. Rothschild, MD.
Hurler syndrome; lateral radiograph of thoracolumbar vertebrae illustrates vertebral plana. Courtesy of Bruce M. Rothschild, MD.
Morquio syndrome; anteroposterior radiograph of pelvis illustrates avascular necrosis of femoral head. Courtesy of Bruce M. Rothschild, MD.
Hurler syndrome; widened metaphyses and diaphyses with truncated distal portions forming a peg characterize this radiograph. Courtesy of Bruce M. Rothschild, MD.
Hurler syndrome; widened metaphyses and diaphyses with truncated distal portions forming a peg characterize this radiograph. Courtesy of Bruce M. Rothschild, MD.
 
 
 
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