Familial Moyamoya disease in two European children.

J Child Neurol 22(12):1371-6 (2007) PMID 18174554

We present familial Moyamoya disease in two European children and emphasize the importance of familial factors in the pathogenesis of this disease and its appearance not only in Asians but in the Western population as well. The first patient, a Greek female infant, also has coagulation disorders. Her mother, also suffering from Moyamoya and other family members, have similar coagulation disorders (Factor V Leiden, Methylene-tetrahydrofolic reductase and Factor II 20210A mutations). The second patient, a Scottish boy, is unique in that familial Moyamoya affects five members of three consecutive generations of his maternal family. Genetic analysis in the Greek family demonstrated no abnormality on chromosome 3p26, as in other cases. However, the mitochondrial DNA and Y chromosomal genotype showed that affected members had the same sequence of the Mitochondrial 3 portion of D-loop with Japanese patients. These findings suggest that the pathogenesis of Moyamoya may vary across races and ethnic groups.