eMedicine Specialties > Orthopedic Surgery > Pediatrics

Mucopolysaccharidosis: Treatment & Medication

Author: Tarek Bittar, MD, Staff Physician, Department of Orthopedic Surgery, Martin Luther King Medical Center
Coauthor(s): Eleby R Washington III, MD, FACS, Associate Professor, Department of Surgery, Division of Orthopedics, Charles R Drew University of Medicine and Science
Contributor Information and Disclosures

Updated: Mar 4, 2008

Treatment

Medical Care

Specific treatment or cure is limited for MPS. Management has been limited to supportive care and experimental treatment modalities. Routine assessment of multiple organ involvement is necessary to maintain the highest quality of life in these patients. Below are some of the medical and surgical treatment modalities that have been attempted for care of the patient with MPS.5,11,12,10,8,13

Laronidase (Aldurazyme) is a polymorphic variant of the human enzyme alpha-L-iduronidase produced by recombinant DNA technology. It is indicated to treat MPS type I (Hurler and Hurler-Scheie forms). It increases catabolism of glycosaminoglycans (GAGs), which accumulate with MPS I. Laronidase therapy has shown to improve walking capacity and pulmonary function.

Idursulfase (Elaprase) is a purified form of human iduronate-2-sulfatase, a lysosomal enzyme. It hydrolyzes 2-sulfate esters of terminal iduronate sulfate residues from the GAGs dermatan sulfate and heparan sulfate in the lysosomes of various cell types. It is used to replace insufficient levels of the lysosomal enzyme iduronate-2-sulfatase in MPS II.14,12,10,8

  • Hearing loss: Severe handicapping hearing loss is present in about 70% of patients with MPS. Routine audiologic assessment and management is extremely important in order to maintain the highest quality of life.
  • Joint stiffness: Range of motion exercises at home are indicated to limit the progressive loss of motion that is commonly seen in these patients. Night splinting and occupational aids have also been helpful.
  • Bone marrow transplantation (BMT) has been successful in the treatment of MPS conditions, especially Hurler syndrome. Children treated with BMT generally have an increased lifespan compared to untreated children. Untreated children commonly died of cardiorespiratory compromise in the first decade of life. However, the musculoskeletal condition (dysostosis multiplex) did not improve with BMT. Skeletal radiographs of children treated with BMT and those who are not treated typically look similar.13

Surgical Care

Surgical care for specific conditions includes the following:

  • Hydrocephalus: Ventriculoperitoneal shunting is the surgical treatment of choice in the child with hydrocephalus. Some clinical improvement has been noted in these patients after shunting. However, neurologic dysfunction has not been significantly affected. Thus, early recognition of hydrocephalus and early shunting before the onset of severe neurologic involvement may play a role in the management of these patients.
  • Corneal clouding: Corneal transplantation has been performed for severe cases, but long-term results are lacking.
  • Cardiovascular disease: Valve replacement has been performed, but experience is only limited. Mitral and aortic valves are most affected.
  • Obstructive airway disease: Sleep apnea is common in MPS and is defined as cessation of airflow through the mouth or nose for a period greater than 10-15 seconds. Tracheostomy has been attempted for management of severe apnea with good success. Patients with obstructive airway disease are at a significant risk for anesthesia. This is especially true for patients with atlantoaxial instability such as those with Morquio syndrome.
  • Orthopedic conditions: Orthopedic surgeries include soft tissue and bony procedures. The most common soft tissue procedure done in these patients is carpal tunnel release. Soft tissue procedures about the hip, knee, and ankle for release of contractures have also been performed, although results have been poor. Hip containment surgeries, such as femoral and pelvic osteotomies, are sometimes necessary in these patients. Progressive valgus deformity at the knee may also require corrective osteotomy, usually of the proximal tibia. Kyphosis is progressive in many of these patients, especially at the thoracolumbar level and sometimes associated with thoracis scoliosis. Posterior spinal fusion is proved to prevent further progression. In the cervical spine, odontoid hypoplasia can be seen leading to atlantoaxial instability. Fusion from C1 to C3 can be helpful.

Consultations

Multispecialty care is mandatory for these patients and should include a pediatrician (internist), a neurologist, a cardiologist, an ophthalmologist, an audiologist, an orthopedic surgeon, and a physical and occupational therapist.

More on Mucopolysaccharidosis

Overview: Mucopolysaccharidosis
Differential Diagnoses & Workup: Mucopolysaccharidosis
Treatment & Medication: Mucopolysaccharidosis
Follow-up: Mucopolysaccharidosis
Multimedia: Mucopolysaccharidosis
References
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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, et al. 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].

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Further Reading

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Keywords

MPS, inherited metabolic disorders, lysosomal enzyme deficiency, lysosomal storage disease, Hurler syndrome, MPS IH, Hurler-Scheie syndrome, MPS I-H/S, Scheie syndrome, MPS IS, Hunter syndrome, MPS II, Sanfilippo syndrome, MPS III, Morquio syndrome, MP IV, Maroteaux-Lamy syndrome, MPS VI, Sly syndrome, MPS VII

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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.

Medical Editor

Charles T Mehlman, DO, MPH, Director, Musculoskeletal Outcomes Research, Associate Professor, Division of Pediatric Orthopaedic Surgery, 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 Oncology Group, and Scoliosis Research Society
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

George H Thompson, MD, Professor of Orthopedic Surgery and Pediatrics, Department of Pediatric Orthopedic Surgery, Case Western Reserve University; Director, Rainbow Babies and Children's Hospital
George H Thompson, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Orthopaedic Surgeons, American Academy of Pediatrics, and Ohio State Medical Association
Disclosure: Nothing to disclose.

CME Editor

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, American Association of Physicians of Indian Origin, American College of International Physicians, and American College of 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.

 
 
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