A New CARASIL Family: Recurrent Lobar Hemorrhage as a Novel Characteristic of the Disease

Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a rare monogenic cause of cerebral small vessel disease.Clinical manifestations include progressive motor and cognitive impairments, alopecia and spondylosis.The disease is caused by homozygous mutations in the gene coding for high-temperature requirement A serine peptidase 1 (HTRA1).Little is known about genotype-phenotype correlation in CARASIL.Here we report two consanguineous CARASIL patients having homozygous c.235C>T (p.Q79*) mutation of the HTRA1 gene.Despite having the same mutation, the patients had different clinical manifestations and neuroimaging findings; one of the patients presented with epileptic seizures and multiple recurrent lobar hemorrhages.Lobar hemorrhage has not been previously reported in CARASIL.