[Mucopolysaccharidosis type I, Hurler's syndrome].
A 5-year-old girl with a very rare autosomal recessive disease, Hurler's syndrome, is described. This is a progressive disease and the main symptoms, typical for metabolic disorders of mucopolysaccharides were present. Only intransprarent cornea was not manifest, as it usually appears in advanced age. Dental examination confirmed the following symptoms: hypertrophic alveolar process; spaced, carious teeth; long tongue; enamel hypoplasia; hypocalcification; open teeth occlusion, etc. The prognosis is characterized by aggravation of symptoms till death in the second decade of life. The therapy is symptomatic.
Simić
M
M
Arsenijević
S
S
Varagić
M
M
Jović
B
B
D002675:Child, Preschool; D005260:Female; D006801:Humans; D008059:Mucopolysaccharidosis I; D014071:Tooth Abnormalities
Mucopolysacharidosis--tipe I, Hurler sindrom.