A CONTRIBUTION TO THE DIFFERENTIAL DIAGNOSIS OF HURLER’S DISEASE AND FORMS OF MORQUIO’S SYNDROME

Recent investigations have shown that it is not always possible to distinguish Morquio’s syndrome from atypical forms of Hurler’s disease by clinical and radiological methods alone (Brailsford 1929, Morquio 1929, Robinow 1958, McKusick 1960). The difficulty is present in diagnosing the new patient as well as in assessing previous case reports. Sometimes the confusion has been so great that several authors (Aegler 1951, Eichenberger 1954, Sorsby 1963) have considered the two diseases to be the same congenital disorder, and it has even been claimed that they have occurred in members of the same family (B#{246}cker 1943; Hochheim, K#{246}rner and Liebe 1955). To establish the diagnosis there are three investigations which are decisive when the clinical and radiological signs fail to make the differential diagnosis. The three investigations are the quantitative and qualitative analysis of acid mucopolysaccharides in the urine, the finding of subclinical corneal opacities and the discovery of metachromatic inclusions in the cytoplasm of lymphocytes (Mittwoch 1963). This has also been emphasised recently by Maroteaux and Lamy (1965) who reviewed differences between Morquio’s and various forms of Hurler’s diseases