Hurlers Disease Gargoylism

Type Mucopolysaccharidosis Name Genetics Clinical features Mucopolysaccharides in the urine 

I Hurler s disease Autosomal recessive Dwarfism, gargoyle facies, mental retardation, early death Chondroitin sulfate B and heparitin sulfate 

III Polydystrophic oligophrenia, Sanfilippo s disease Autosomal recessive Minor somatic changes, severe mental retardation Heparitin sulfate 

IV Osteochondrodystrophy, Morquio-Brailsford disease Autosomal recessive Dwarfism, distinctive skeletal features (emerging with aging) Keratosulfate 

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There are numerous inherited disorders of lysosomal metabolism in humans. These disorders result from the lack of a specific acid hydrolase and have several clinical manifestations. A variety of substances may accumulate that interfere with normal cell functions, as is the case with the lipidoses (Chapter 9) or mucopolysaccharides (glycosaminoglycans) in the Hurler s disease (gargoylism). 

In gargoylism or Hurler s disease (on hematoxylin-eosin stain, the cells of the anterior pituitary are large,... 

Since ganglioside storage is observed in gargoylism (Pfaundler-Hurler syndrome), this disease will be considered under the heading of gangliosidoses, although the complex disturbance of lipid and mucopolysaccharide metabolism in gargoylism is still poorly understood. 

Fig. G. Hurler s disease. Typical gargoyle facies. (From Jacobi and Waardenburg 1940) Fig. 7. A seven year old boy with Hurler s disease. (From Catel 1951)...

Craig, J. M.,J.T.CLARKE,andB.Q.Banker Metabolic neurovisceral disorder with accumulation of unidentified substance variant of Hurler s Syndrome Amer. J. Dis. Child. 98,577 (1959). Craig, W. S. Gargoylism in a twin brother and sister. Arch. Dis. Child. 29, 293 (1954). Crawley, J. W. Three cases of the juvenile form of amaurotic family idiocy (Vogt-Spielmeyer disease) with electroencephalographic findings. J. Pediat. 61, 571 (1957). 

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