COL4A1 mutation revealed by an isolated brain hemorrhage.

Discussion The spectrum of COL4A1-related disorders includes perinatal cerebral hemorrhage and porencephaly [2] , cerebral small vessel disease with retinal arteriolar tortuosity and leukoencephalopathy [3] , HANAC syndrome (Hereditary Angiopathy, Nephropathy, Aneurysms, and Muscle Cramps) and other eye abnormalities, including the Axenfeld-Rieger anomaly and cataract. A frequent white matter involvement is reported [3, 4] . Interestingly, some HANAC patients may have a normal brain MRI. However, except for one patient who suffered from migraine, these patients were free from neurologic symptoms [5, 6] . Recently, Weng et al. [7] reported COL4A1 variants in 2/96 patients with sporadic ICH. Their phenotype was not described in Introduction Ten to fifteen percent of strokes are related to an intracerebral hemorrhage (ICH). Etiologies are mainly arterial hypertension, amyloid deposition, and vascular malformations. In cases of a young age without vascular risk factors and vascular malformations, a genetic cause has to be suspected, especially a mutation in the gene coding for type IV collagen alpha 1 (COL4A1) [1] . We report a COL4A1 gene mutation in a 45-year-old woman with an isolated ICH in the absence of any other MRI abnormality, which further extends the clinical spectrum of COL4A1 mutations.