Cerebroretinal vasculopathy and leukoencephalopathy mimicking a brain tumor - Report of two early-onset cases with Fanconi's anemia-like phenotypes suggesting an autosomal-recessive inheritance pattern

We report two sisters affected with a unique disorder characterized by recu rrent space-occupying brain lesions and retinal vasculopathy since their ea rly twenties. Affection status was associated with abnormalities characteri stic of Fanconi's anemia, i.e. aplastic anemia, microcephaly, short stature , an unusual face and pigmentation abnormalities of skin. In cytogenetic an alyses performed in childhood signs of chromosome fragility or any chromoso mal aberration were lacking. Histopathological examination of brain biopsy samples in both cases demonstrated identical histomorphological features of an unusual occlusive vasculopathy with multilayered basement membranes and coagulation necroses which were confined to the white matter. A veno-occlu sive retinopathy with neovascularization attributed to progressive visual l oss. One of the sisters died at an age of just 24 years, the other is now 2 7 years old. Unlike any other published cases of hereditary cerebroretinal vasculopathy, the sisters' complex early-onset vaso-occlusive CNS-/eye-dise ase seems to be genetically associated with their Fanconi's anemia-like phe notypes and is suggested to constitute an autosomal-recessive variant. Patc hy white matter calcifications, an incidental finding in either of the affe cted sisters, may represent preclinical manifestation of disease onset in c hildhood.