A further contribution to the knowledge of mucopolysaccharidosis I H/S compound. Presentation of two cases and review of the literature

N. Colavita, C. Orazi, A. Fileni, P. C. Leone, R. Ricci, G. Segni

Research output: Contribution to journalArticlepeer-review

Abstract

Several different types of MPS have been clinically and biochemically classified by McKusick. MPS I includes two different syndromes: Hurler syndrome and Scheie syndrome, whose clinical findings are now well established. The former is more severe than the latter, but they are both determined by the same enzymatic defect: a deficiency of α-L-iduronidase activity. The different phenotypes resulting were previously explained by assuming the existence of two different alleles, each one independently responsible for one of the two syndromes. Whenever both of them are carried by the same subject they give rise to an intermediate phenotype, termed the Hurler-Scheie syndrome (H/S syndrome). In this paper we present two cases of siblings born of non-consanguineous parents and compare their clinical and phenotypical features with those reported in the literature. Furthermore, we try to assess whether at least a group of alterations can be defined that are constantly present and significant for the H/S syndrome among the clinical findings and phenotypical traits reported by previous authors.

Original languageEnglish
Pages (from-to)142-149
Number of pages8
JournalAustralasian Radiology
Volume30
Issue number2
Publication statusPublished - 1986

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging

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