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A monozygotic twin pair with highly discordant Gaucher phenotypes
M Biegstraaten1, I N van Schaik, J M F G Aerts
1Department of Neurology, Academic Medical Centre, Amsterdam, The Netherlands.
None:
We describe monozygotic twin sisters, born to consanguineous Moroccan parents, who are highly discordant for the manifestations of Gaucher disease. Both carry Gaucher genotype N188S/N188S. One has severe visceral involvement, epilepsy, and a cerebellar syndrome. Her twin does not manifest any symptoms or signs of Gaucher disease but suffers from type 1 diabetes mellitus. The concurrence of a mild Gaucher mutation with a severe phenotype, as well as the occurrence of highly discordant phenotypes in a pair of monozygotic twins, is discussed.
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