Stomatological Problems in Child with the II Type Mucopolysaccharidosis

Overview

Introduction:
Mucopolysaccharidoses are congenital, hereditary disorders of metabolism, caused by deficiency of vital enzyme. As a result of this the products of metabolism accumulate and settle in tissues and body organs (liver, spleen, heart, brain) and cause malfunction. Children mostly thrive well initially, clinical manifestation of illness are obvious in future development. The II type mucopolysaccharidosis, well-known as Hunter syndrome, affects predominantly boys. In the clinical picture there is typical small figure, short neck, macrocephalia, prominent forehead, flat root of nose, hard-featured, fingers with flex contraction, large abdomen and mental retardation. Stomatological report include poor labial closure and macroglossia manifested in opening of the mouth, macrocheilia, wide dental arches and dentition with spaces. Suspicion for Hunter syndrome follow from clinical examination of the patient, the diagnosis is supported by analysis of urine and definitively confirmed by molecular genetical examination. The transplantation of haematopoietic cells or more frequently the substitution of missing enzyme are used in the therapy.

Case Report:
Stomatological findings and the clinical dental management of a boy with the II type mucopolysaccharidosis are described in the case report. We take care about this patient for nine years, he was recommended in our ward by the pediatrician at the age of five years and six month. The child co-operated very bad during the examination, he had typical broad face, prominent lips, convex profile and the sign of bialveolar protrusion. In the oral cavity there were wide dental arches, carious deciduous dentition with spaces and gingivitis due to dental plaque.

Conclusion:
In this case report we wanted to point out stomatological findings of a boy with the II type mucopolysaccharidosis, rare, hereditary, incurable illness. Not only pediatrician, surgeon, psychologist and other specialists participate on the treatment of this patients, but dentist either. Interdisciplinary co-operation is very important in these cases.

Key words:
mucopolysaccharidosis – Hunter syndrome – gargoylism – multisystemic disability – enzyme replacement therapy