Hurler syndrome: a case report of a 5-year follow-up of dental findings after bone marrow transplantation

Abstract

Hurler syndrome is a rare autosomal recessive disorder of mucopolysaccharide metabolism. It results from a deficiency in lysosomal enzymes responsible for the breakdown of glycosaminoglycans. Affected individuals may show progressive physical and mental deterioration as glycosaminoglycans are deposited in the organs of the body. Bone marrow transplantation (BMT) is effective in improving some of the clinical manifestations of Hurler syndrome. Death is caused by cardiorespiratory failure and usually occurs before the second decade of life. In this case report, the course of dental development was followed over 5 years, from the primary dentition into the permanent dentition, of a child who was successfully treated with a bone marrow transplant in infancy. The timing of bone marrow therapy has significant and variable effect on the stages of tooth development with implications for the long-term maintenance of the dentition.

Oral manifestations in children with mucopolysaccharidosis

“…8,9,19,22,24,25 Delayed tooth eruption can be explained by the presence of hyperplastic dental follicles due to excessive deposition of collagen and glycosaminoglycans around unerupted teeth 17,18,28,32 and also due to dentigerous cysts with smooth and clearly defined margins, as described by Alpôz et al 28 Through the evaluation of dental occlusion, we showed that MPS patients presented anterior open bite, right and left posterior cross-bites, limitation of mouth opening as well as maxillary compression in comparison to controls. Other studies corroborate these findings such as the study of Turra et al 14 that followed seventy-eight patients with MPS: 84.8% had anterior open bite, 37.9% had crossbite.…”

“…Radiographic features that have been reported include short mandibular rami with abnormal condyles; reports also include delayed eruption teeth related to the presence of multiple unerupted teeth with large thickened dental follicles secondary to excessive dermatan sulfate and collagen deposition. 3,[7][8][9][13][14][15][17][18][19][20][21][22][23][24][25][26][27] Notwithstanding, to date there are no studies comparing oral features of patients with mucopolysaccharidosis with controls without the disease. The evaluation of dental conditions in patients with MPS is scarce considering that in literature only clinical cases are described.…”

“…3,7-9,13-15,17-27 Thick lips with an open mouth posture are also features associated with this syndrome. 3,7-9,13-15, [17][18][19][20][21][22][23][24][25][26][27] Few studies have reported the oral and dental changes in MPS patients. The reported alterations include a short and broad mandible, macroglossia, anterior open-bite, high arched palate with pronounced rugae, spaced dentition, lip hypotonia, gingival hyperplasia and enlargement of the alveolar process.…”

“…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.…”

“…8,21,22 Our results showed a greater prevalence of macroglosia and lingual interposition in patients with mucopolysaccharidosis, which is corroborated in the literature by several authors. 7,9,[13][14][15][20][21][22][23][24][26][27][28][29] The macroglossia is due to the deposition of glycosaminoglycans (GAG) in the tongue structure that usually results in an anterior open bite. 7,9,13,15,[19][20][21][22][23][24][25][26][27][28]30,31 The higher prevalence of lingual interposition in patients with MPS may be due to the presence of macroglossia, anterior open bite and strong maxillary compression.…”