Dental findings and oral health status in patients with mucopolysaccharidosis: a case series

Abstract

The dental changes in MPS population are high and consequently it is important to know them for differential diagnoses, early treatment intervention, prevention and education of both patients and parents/caregivers about oral health.

Oral manifestations in children with mucopolysaccharidosis

“…the most common are dwarfism, umbilical and inguinal hernias, macrocephaly, coarse facial changes, delayed motor skills, corneal clouding, glaucoma, dysostoses, bone dysplasias, heart disease, respiratory distress (obstructive/ restrictive disease), hepatosplenomegaly, progressive neurodegenerative disease, limited joint mobility as well as hearing loss. [1][2][3][4][6][7][8][9][13][14][15] The average life expectancy in the most severe forms is between ten to twenty years, though in attenuated forms survival may be normal. [1][2][3][4][6][7][8][9][13][14][15] Death is usually a result of either respiratory tract infection or cardiac disease, which are caused by the deposition of mucopolysaccharides.…”

“…[1][2][3][4][6][7][8][9][13][14][15] The average life expectancy in the most severe forms is between ten to twenty years, though in attenuated forms survival may be normal. [1][2][3][4][6][7][8][9][13][14][15] Death is usually a result of either respiratory tract infection or cardiac disease, which are caused by the deposition of mucopolysaccharides. [1][2][3][4]6,15,16 Diagnosis and management are often challenging because of the considerable variability in symptom presentation and rate of progression.…”

“…The accumulation of mucopolysaccharides impacts the stomatognathic system, leading to changes in oral health and to the development of the dentition of patients with this disease. 3,[7][8][9][13][14][15][17][18][19][20][21][22][23][24][25][26][27] Craniofacial features consist of coarse facial features high prominent forehead, snub nose with a depressed nasal bridge, broad nasal tip, and anteverted nostrils. 3,7-9,13-15,17-27 Thick lips with an open mouth posture are also features associated with this syndrome.…”

“…1,7 Type II is linked to chromosome X, whereas all the others are autosomal recessive disorders. 1,8,9 It is estimated that the overall incidence of MPS is around 4 per100,000 live births (0.04%). [10][11][12] Each type of MPS is associated with a wide range of clinical heterogeneities; however, all possess some common characteristics such as multisystemic, chronic and progressive deterioration, with osteoarticular, audiovisual and cardiovascular changes.…”

“…Patients may appear normal at birth and manifest symptoms later. [1][2][3][4][6][7][8][9][13][14][15] Among the various features that characterize MPS patients, MedicalExpress (Sao Paulo, online) 2017 October;4(5):M170504…”