Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS)

摘要: We describe a Chinese American family with hereditary syndrome consisting of retinopathy, nephropathy, and stroke, affecting 11 members spanning three generations. Ophthalmologic evaluations revealed macular edema capillary dropout perifoveal microangiopathic telangiectases. Several had renal abnormalities proteinuria hematuria. Initial manifestations were visual impairment dysfunction; neurologic deficits occurred in the third or fourth decade life. Symptoms included migraine-like headache, psychiatric disturbance, dysarthria, hemiparesis, apraxia. Neuroimaging consistently demonstrated contrast-enhancing subcortical lesions surrounding edema. Ultrastructural studies showed distinctive multilaminated vascular basement membranes brain other tissues, including kidney, stomach, appendix, omentum, skin. Genetic analysis ruled out linkage to CADASIL locus on chromosome 19. Distinct from CADASIL, endotheliopathy stroke (HERNS) is an autosomal dominant multi-infarct systemic involvement.