eMedicine Specialties > Pediatrics: Genetics and Metabolic Disease > Metabolic Diseases
Mucopolysaccharidosis Type VII: Follow-up
Updated: Dec 5, 2008
Follow-up
Complications
- Patients with mucopolysaccharidosis type VII (MPS VII) have sensitivity to anesthesia.
Prognosis
- Fetal deaths have been reported in severe cases, whereas , in milder cases, survival to age 19-20 years is possible.
- Upper respiratory tract infections, neurodegenerative complications, and GI tract conditions contribute to a reduced median age of survival.
Patient Education
- Encourage families to see a medical geneticist for counseling and diagnosis.
- Support groups and organizations that patients may find helpful include the following:
- Genetic Alliance at 202-966-5557
- March of Dimes at 888-663-4637
- National Organization for Rare Disorders at 800-999-6673
- National MPS Society at 610-942-0100
Miscellaneous
Medicolegal Pitfalls
- Patients with mucopolysaccharidosis type VII (MPS VII) may have an unusual sensitivity to anesthesia because of airway malformations or cervical instability. Take precautions prior to any surgery involving a patient who has even a mild form of MPS.
- A legal risk occurs if parents of an affected individual are not informed regarding the risk in future pregnancies.
Special Concerns
- Because MPSs result from different genetic causes and share some features in common, determination of the precise genetic cause is essential. Making a distinction between MPS II (Hunter syndrome), which is sex-linked recessive, and the other MPSs, which are autosomal recessive, is especially critical to genetic counseling.
The authors and editors of eMedicine gratefully acknowledge the contributions of previous author Donald Nash, MD, to the development and writing of this article.
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Follow-up: Mucopolysaccharidosis Type VII |
| References |
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References
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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. Apr 1 1998;91(7):2601-8. [Medline].
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Further Reading
Keywords
mucopolysaccharidosis type VII, MPS VII, Sly syndrome, beta-glucuronidase deficiency, Hunter syndrome, hydrops fetalis, upper respiratory tract infections, macrocephaly, hepatomegaly, hepatosplenomegaly, inguinal hernia, umbilical hernia, growth retardation, neonatal cholestasis, ascites, short stature, dwarfism, hearing loss, hirsutism, chronic inflammatory lung disease
Follow-up: Mucopolysaccharidosis Type VII