Medical Care
Because of multisystem involvement in patients with mucopolysaccharidosis type I (MPS I), treatment is multidisciplinary and encompasses both curative and palliative elements. [11] Continuity of care with ongoing evaluation at a hospital center with expertise in the management of MPS I is essential.
Enzyme replacement therapy (ERT) with laronidase may provide clinically important benefits such as improved pulmonary function, improved walking ability, and reduced excess carbohydrates stored in organs. [12, 13, 14, 15, 16] ERT can help visceral manifestations; however, since laronidase cannot cross the blood-brain barrier into the central nervous system, this treatment cannot help or stop neurodegeneration.
Treatment with hematopoietic stem cell transplantation may be an option if the patient is diagnosed at younger than age 24 months.
Surgical Care
Corrective surgery may be necessary for patients with mucopolysaccharidosis type I (MPS I) who have joint contractures and/or foot and hand deformities. [17] Corneal transplantation may be considered if visual impairment progresses and becomes markedly severe.
Consultations
Because of the varied clinical concerns and symptoms observed in patients with mucopolysaccharidosis type I (MPS I), a multidisciplinary approach to care is essential. Besides a general pediatrician’s well-child care, the following pediatric specialties are needed:
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Neurologist
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Cardiologist
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Pulmonologist
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Orthopedist/physical therapist
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Ophthalmologist
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Audiologist/speech therapist
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Dentist/orthodontics
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Developmental-behavioral specialist
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Medical geneticist/genetic counselor: Given numerous mutations at 4p16.3, identification of which allele or alleles are involved in a patient's case requires referral to medical geneticists for diagnosis and genetic counseling.
Long-Term Monitoring
Because of the progressive disease process seen in MPS I, these patients should be regularly monitored. The focus of these evaluations should be to identify potential problems, to support early intervention, to decrease morbidity, to prevent premature mortality, and to enhance quality of life. Every patient with MPS I is unique. A general schedule of assessment and follow-up is available through the MPS I Registry to give guidance to medical providers and families. Support organizations, such as The National MPS Society, can also assist medical care personnel, caregivers, and patients.
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Hurler syndrome; lateral radiograph of thoracolumbar vertebrae illustrates vertebral plana. Courtesy of Bruce M. Rothschild, MD.
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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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Hurler syndrome; widened metaphyses and diaphyses with truncated distal portions forming a peg characterize this radiograph. Courtesy of Bruce M. Rothschild, MD.
