A family is described, marked by a large number of subjects with hernias, 4 of whom, all males, died of heart failure. Two subjects, both from consanguineous marriage, are affected by Scheie's syndrome. A third subject died at the age of 47 from an unknown neuropsychiatric disease, which began at 12 yr of age. The clinical evolution and features are typical of Scheie's disease which is proved by urinary MPS analysis. Histological examination of the cornea is described: epithelial cells and Bowman membrane are vacuolated and the stroma disrupted. In the basal epithelial cells, between the lamellae of the stroma and in parenchymal cells there is acid mucopolysaccharides marked infiltration.

Pinto, L., Menna, F., Balbi, R., Cecio, A., Federico, A., Carlomagno, S., et al. (1974). Histochemical examination of the cornea in a patient with Scheie's disease (presentation of a new family) [ESAME ISTOCHIMICO DELLA CORNEA DI UN PAZIENTE AFFETTO DA MALATTIA DI SCHEIE (PRESENTAZIONE DI UNA NUOVA FAMIGLIA)]. ACTA NEUROLOGICA, 29(1), 38-57.

Histochemical examination of the cornea in a patient with Scheie's disease (presentation of a new family) [ESAME ISTOCHIMICO DELLA CORNEA DI UN PAZIENTE AFFETTO DA MALATTIA DI SCHEIE (PRESENTAZIONE DI UNA NUOVA FAMIGLIA)]

Federico, A.;
1974-01-01

Abstract

A family is described, marked by a large number of subjects with hernias, 4 of whom, all males, died of heart failure. Two subjects, both from consanguineous marriage, are affected by Scheie's syndrome. A third subject died at the age of 47 from an unknown neuropsychiatric disease, which began at 12 yr of age. The clinical evolution and features are typical of Scheie's disease which is proved by urinary MPS analysis. Histological examination of the cornea is described: epithelial cells and Bowman membrane are vacuolated and the stroma disrupted. In the basal epithelial cells, between the lamellae of the stroma and in parenchymal cells there is acid mucopolysaccharides marked infiltration.
1974
Pinto, L., Menna, F., Balbi, R., Cecio, A., Federico, A., Carlomagno, S., et al. (1974). Histochemical examination of the cornea in a patient with Scheie's disease (presentation of a new family) [ESAME ISTOCHIMICO DELLA CORNEA DI UN PAZIENTE AFFETTO DA MALATTIA DI SCHEIE (PRESENTAZIONE DI UNA NUOVA FAMIGLIA)]. ACTA NEUROLOGICA, 29(1), 38-57.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11365/27346
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