Clinical and imaging features of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy(report of one family) / 临床神经病学杂志

ABSTRACT

Objective To investigate the clinical and imaging features of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy(CARASIL).Methods Clinical data of a Chinese Mongolian patient with CARASIL were analyzed retrospectively and pedigree investigation was carried out in the family.Results The proband's parents were cousin and her brother was a patient with CARASIL too.The patients had onset at 25 and 23 years old,respectively.Clinical manifestations included cerebral stroke,progressive motor and mental deterioration,seizures,alopecia,and ocular fundus arteriosclerosis.No common risk factors of cerebral stroke were found in the family.Brain MRI showed bilateral diffuse cerebral white matter lesion with multiple infarcts and O'Sullivan sign.Cervical vertebral MRI showed multiple protrusion of intervertebral disc and significant retrogression.Conclusions CARASIL is clinically characterized by young-age-onset cerebral stroke,cerebral arteriosclerosis,alopecia,cervical and lumbar spondylopathy.MRI shows multiple cerebral infarcts,leukoencephalopathy and retrogression of intervertebral disc.