eMedicine Specialties > Orthopedic Surgery > Pediatrics
Mucopolysaccharidosis: Follow-up
Updated: Mar 4, 2008
Follow-up
Complications
- Hearing loss
- Joint stiffness
- Hydrocephalus
- Corneal clouding
- Cardiovascular disease
- Obstructive airway disease
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.
Miscellaneous
Medicolegal Pitfalls
- Although no clinically proven treatments have been available for MPS, various experimental studies have been performed. These include enzyme replacement via plasma exchange and fibroblast transplantation from healthy individuals. These procedures resulted in decrease in excretion of urinary mucopolysaccharides but did not convincingly cause clinical improvement. These procedures are quite invasive and very expensive; thus, they have not achieved popularity in the medical community.
Special Concerns
- Identification of female heterozygotes can be possible in Hunter syndrome. These females appear clinically healthy. Carrier detection is done using hair-root analysis and single cell cloning of fibroblast. However, these tests are not widely available at this time.
More on Mucopolysaccharidosis |
| Overview: Mucopolysaccharidosis |
| Differential Diagnoses & Workup: Mucopolysaccharidosis |
| Treatment & Medication: Mucopolysaccharidosis |
Follow-up: Mucopolysaccharidosis |
| Multimedia: Mucopolysaccharidosis |
| References |
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References
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Jones KL. Storage disorders. In: Smith's Recognizable Patterns of Human Malformation. Philadelphia, Pa: WB Saunders Co; 1997:456-471.
Muenzer J. Mucopolysaccharidoses. Adv Pediatr. 1986;33:269-302. [Medline].
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].
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].
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].
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].
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].
Menkès CJ, Rondot P. Idiopathic osteonecrosis of femur in adult Morquio type B disease. J Rheumatol. Nov 2007;34(11):2314-6. [Medline].
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].
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].
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].
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].
Clarke LA. Idursulfase for the treatment of mucopolysaccharidosis II. Expert Opin Pharmacother. Feb 2008;9(2):311-7. [Medline].
Further Reading
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
Follow-up: Mucopolysaccharidosis