Further Outpatient Care

Physical therapy to maximize joint mobility is beneficial.

Further Inpatient Care

Obstructive airway disease can result from narrowing of the trachea, enlarged tongue, and redundant tissue in patients with mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome. Tracheostomy has been performed in some patients. Tonsillectomy and adenoidectomy are also frequently performed to relieve obstruction.

Many patients develop carpal tunnel syndrome, which may require nerve decompression.

Inpatient & Outpatient Medications

Patients with cardiac disease may require pharmacological therapy to manage cardiac failure. Monitor these patients closely with a pediatric cardiologist.

Transfer

Transfer patients with MPS VI who require general anesthesia for any procedure to a facility equipped to handle the substantial anesthetic risks.

Deterrence/Prevention

In most cases, a history of MPS VI is not present, and the affected child is the first affected individual in the family.

In future pregnancies, prenatal diagnosis is possible.

Complications

Vision loss due to corneal clouding is common. Rapid vision loss may occur related to increased intracranial pressure or compression of optic nerve.

Hearing loss is common and may require hearing aids.

Carpal tunnel syndrome is a common complication.

Obstructive airway disease can result in hypoventilation and pulmonary hypertension.

Valvular heart disease is common and may lead to congestive heart failure.

Spinal cord compression with damage and paralysis may occur.

Prognosis

MPS VI is a progressive disorder with significant morbidity and early mortality. As with many genetic inborn errors of metabolism, considerable variation exists among individual patients. Therefore, the prognosis for a particular patient must be determined after consideration of the presentation and complications.

Patient Education

Counsel patients and their families about the autosomal recessive inheritance pattern of MPS VI, the risk for occurrence in future pregnancies, and the availability of prenatal diagnosis.

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Author

Paul R Harmatz, MD Attending Physician, Department of Gastroenterology and Nutrition, Children’s Hospital Oakland

Paul R Harmatz, MD is a member of the following medical societies: American Gastroenterological Association

Disclosure: Received consulting fee from BioMarin Pharmaceutical Inc. for consulting; Received honoraria from BioMarin Pharmaceutical Inc. for speaking and teaching; Received advisory board from BioMarin Pharmceutical Inc. for board membership; Received consulting fee from Shire Human Genetic Therapies for board membership; Received honoraria from Shire Human Genetic Therapies for speaking and teaching; Received honoraria from Genzyme for speaking and teaching; Received grant/research funds from BioMarin Ph.

Coauthor(s)

Margaret M McGovern, MD, PhD Professor and Chair of Pediatrics, Stony Brook University School of Medicine

Margaret M McGovern, MD, PhD is a member of the following medical societies: American Academy of Pediatrics, American Society of Human Genetics

Disclosure: Nothing to disclose.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Chief Editor

Maria Descartes, MD Professor, Department of Human Genetics and Department of Pediatrics, University of Alabama at Birmingham School of Medicine

Maria Descartes, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics, Society for Inherited Metabolic Disorders, International Skeletal Dysplasia Society, Southeastern Regional Genetics Group

Disclosure: Nothing to disclose.

Additional Contributors

Karl S Roth, MD Retired Professor and Chair, Department of Pediatrics, Creighton University School of Medicine

Karl S Roth, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American College of Nutrition, American Pediatric Society, American Society for Nutrition, American Society of Nephrology, Association of American Medical Colleges, Medical Society of Virginia, New York Academy of Sciences, Sigma Xi, The Scientific Research Honor Society, Society for Pediatric Research, Southern Society for Pediatric Research

Disclosure: Nothing to disclose.