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Hurler's syndrome: dental findings in a case treated with bone marrow transplantation in infancy
Author(s) -
HINGSTON E. J.,
HUNTER M. L.,
HUNTER B.,
DRAGE N.
Publication year - 2006
Publication title -
international journal of paediatric dentistry
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.183
H-Index - 62
eISSN - 1365-263X
pISSN - 0960-7439
DOI - 10.1111/j.1365-263x.2006.00712.x
Subject(s) - hurler syndrome , medicine , mucopolysaccharidosis type i , mucopolysaccharidosis i , bone marrow transplantation , pediatrics , hunter syndrome , transplantation , mucopolysaccharidosis , heparin , bone marrow , respiratory failure , pathology , enzyme replacement therapy , disease
Summary. Hurler's syndrome, also known as mucopolysaccharidosis I (MPS I‐H), is a rare condition inherited as an autosomal recessive trait. It is caused by a deficiency in alpha‐ l ‐iduronidase, an enzyme that participates in the degradation of the glycosaminoglycans (GAGs) heparin sulphate and dermatan sulphate. Children with Hurler's syndrome appear nearly normal at birth but, left untreated, show a progressive mental and physical deterioration caused by a build‐up of GAGs in all organs of the body. Death is often caused by cardiac or respiratory failure and usually occurs before the second decade of life. In recent years, bone marrow transplantation (BMT) has been employed in the management of patients with Hurler's syndrome. However, the dental findings observed in these cases have not previously been reported in the dental literature. Here we report a patient aged 11 years and 6 months, presented to a Specialist Paediatric Dentistry Unit, who was successfully treated by BMT at 18 months of age.