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  • Title: [Phenotype of mucopolysaccharidoses. A warning: mucopolysaccharidosis is not called gargoylism!].
    Author: Kircher S, Lubec G, Kraft M.
    Journal: Padiatr Padol; 1988; 23(1):61-80. PubMed ID: 3133629.
    Abstract:
    In medical practice only mucopolysaccharidosis syndromes presenting with gargoylism are being diagnosed. It must however be mentioned that the most frequent mucopolysaccharidosis, Sanfilippo's disease, and other forms of mucopolysaccharidoses (MPSoses) are not showing gargoylism. Besides normal phenomenology "anthropoid" appearance is the prominent and most common--pithecoid--clinical feature. It is the aim of this publication to point to the fact that the appearance of children is in most of the cases with MPSoses nonpathognomonic and only few of them are undergoing further diagnostic steps concerning specific MPSoses diagnostic. This lead to the postulation that even in the presence of few clinical signs of mucopolysaccharidoses as psychomotor retardation, or anthropoid appearance, or hair changes, a screening must be performed. For this purpose the application of the toluidine blue test is not sufficient, as only quantitative changes are found by the use of this test. At least one dimensional or, better, two dimensional electrophoretic separation of urinary mucopolysaccharides should be performed. This procedure, if giving positive results, must be followed by enzyme studies. Following this scheme seems to be the only possibility to establish early and fair genetic counselling in order to cope with these fatal diseases.
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