Teaching Neuro Images : When alopecia and disk herniations meet vascular leukoencephalopathy

Abstract

A 26-year-old Turkish patient presented with progressive spastic gait since age 20 years and premature alopecia. Cerebral and spinal MRI revealed diffuse supra- and infratentorial leukoencephalopathy with recurrent subclinical subcortical infarcts and multiple disk herniations with cervical myelopathy (figure). Targeted panel-sequencing revealed a novel homozygous splice site mutation (c.1005+1G>T; p.?) in HTRA1 , which is known to cause CARASIL (cerebral autosomal-recessive arteriopathy with subcortical infarcts and leukoencephalopathy),1 mostly described in Asians so far.