Hurler Syndrome

Hurler Syndrome: Also known as muciopolysaccharidosis. Genetic disorder that results in the buildup of glycosaminoglycans.

Etiology: Results in the buildup of glycosaminoglycans due to a deficiency of alpha-L iduronidase. A buildup of heparan sulfate and dermatan sulfate occurs. Occurs in 1:25,000 births.

Diagnosis: Prenatal diagnosis with amniocentesis and chorionic villus sampling can verify if a fetus either carries a copy of the defective gene or is affected with the disorder. After birth of a child clinical examination and urine tests are used.

Systemic/medical conditions associated: Progressive deterioration, hepatosplenomegaly, dwarfism and unique facial features. Mental retardation is progressive with death occurring by age 10. Language may be limited due to hearing loss and enlarged tongue. Corneas become clouded and retinas begin to degenerate. Carpal tunnel syndrome and restricted joint movement is common. Children may be large at birth with hernias. Many children slow in growth after age three develop a short body trunk and grow to less than 4 feet. Facial features include flat face, depressed nasal bridge and bulging forehead. Liver spleen and heart are often enlarged. Feeding often difficult and many children die early from obstructive airway disease, respiratory infections or cardiac complications.

Oral manifestations: Facial manifestations: Monitor for obstructive airway when performing dental treatment.

Dental needs: Prevention and often and early treatments to prevent stressful and lengthy appointments.

Recent information: Gene therapy has gained much interest. Patients are given retroviral, lentiviral, AAV and even nonviral vectors to deliver the iduronidase gene. This treatment has been successful on mice, dogs and cat models.