Clinical manifestation of Hurler syndrome in a 7 year old child

Abstract

Mucopolysaccharidosis type I (MPS I H, Hurler syndrome) is a rare autosomal recessive inborn deficiency in the metabolism of glycosaminoglycans (GAGs) heparan sulfate and dermatan sulfate, resulting from deficiency of Alpha-L-iduronidase enzyme. This condition is characterized by accumulation of incompletely degraded glycosaminoglycans into various organs of body, which leads to impairment of organs and body functions. Such children appear nearly normal at birth; however, if left untreated, show a progressive mental and physical deterioration leading to death due to cardiorespiratory failure before the second decade of life. Pedodontists have a role for early diagnosis, rendering corrective and preventive treatment to the developing dentition, and referring the patient to the concerned specialities. An interesting case of a seven year old boy with a combination of skeletal, neurological, ophthalmologic, oro-dental and radiological findings of this diverse and devastating clinical entity with MPS I-(Hurler syndrome) has been presented here in this case report.

Oral manifestations in children with mucopolysaccharidosis

“…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.…”

Oral and periodontal features of autosomal recessive syndromes: a tabular review

“…Hurler's Syndrome (HS) [16,17] A defect in genetically controlled pathways of lysosomal degradation. Physical and mental deterioration…”