A six year old girl and an eleven year old boy from 2 families are described. Their symptoms were characterized by: progressive mental retardation, symmetrically hyperactive, deep tendon reflexes, dwarfism and bone abnormalities visible at X ray. Genetic studies of the 2 families showed an autosomic recessive disorder: the patients' parents were related. CTA test was positive and a type III mucopolysaccharidosis or Sanfilippo's syndrome was suspected on the basis of genetic, clinical and laboratory data. The diagnosis was confirmed by quantitative and qualitative analysis of mucopolysaccharides which showed an abnormal urinary excretion of heparansulfate. The GAG fragments analysis did not show any significant evidence.
Carlomagno, S., Federico, A., Vitiello, F., Pinto, L., Vertucci, P., Marolda, M., et al. (1974). Sanfilippo's disease: clinico-genetic and biological study of 2 families [LA MALATTIA DI SANFILIPPO: STUDIO GENETICO CLINICO E BIOLOGICO DI DUE FAMIGLIE]. ACTA NEUROLOGICA, 29(3), 231-251.
Sanfilippo's disease: clinico-genetic and biological study of 2 families [LA MALATTIA DI SANFILIPPO: STUDIO GENETICO CLINICO E BIOLOGICO DI DUE FAMIGLIE]
Federico, A.;
1974-01-01
Abstract
A six year old girl and an eleven year old boy from 2 families are described. Their symptoms were characterized by: progressive mental retardation, symmetrically hyperactive, deep tendon reflexes, dwarfism and bone abnormalities visible at X ray. Genetic studies of the 2 families showed an autosomic recessive disorder: the patients' parents were related. CTA test was positive and a type III mucopolysaccharidosis or Sanfilippo's syndrome was suspected on the basis of genetic, clinical and laboratory data. The diagnosis was confirmed by quantitative and qualitative analysis of mucopolysaccharides which showed an abnormal urinary excretion of heparansulfate. The GAG fragments analysis did not show any significant evidence.
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https://hdl.handle.net/11365/27156
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