Manejo clínico odontológico de un paciente con mucopolisacaridosis tipo III (Síndrome de Sanfilippo)

Abstract

Sanfilippo syndrome (mucopolysaccharidosis type III) is a lysosomal disorder caused by a defect in the catabolism of heparan sulfate. Mucopolysaccharidosis type III is the most common type of mucopolysaccharidosis. The pathogenic basis of the disease consists of the storage of non-degraded substrate in the central nervous system. The progressive cognitive deterioration that results in dementia and behavioral abnormalities are the main clinical features of Sanfilippo syndrome. Mucopolysaccharidosis type III can be misdiagnosed as other forms of developmental delay, attention deficit/hyperactivity disorder and autistic spectrum disorders due to the lack of somatic symptoms, the presence of mild and atypical forms of the disease. Patients with Sanfilippo syndrome may have comparatively low glycosaminoglycan levels in the urine, resulting in a falsenegative urinary test. The definitive diagnosis is made by an enzymatic assay in cultured leukocytes and fibroblasts. There is currently no effective treatment for mucopolysaccharidosis type III, although ongoing research on the gene, substrate reduction and intrathecal enzyme replacement therapies hope to obtain a curative method to alter the devastating damage of the central nervous system in the future next. The dental treatment of patients with MPS-III requires multidisciplinary collaboration, being of vital importance the maintenance and periodic controls especially in early phases of the disease. In advanced stages, the use of general anesthesia or deep sedation will be required for dental procedures, which will be a huge challenge for the professional.