A 26-year-old Turkish male with progressive spastic gait and premature alopecia Teaching NeuroImages Neurology Resident and Fellow Section  © 2015 American Academy of Neurology

Vignette 26-year-old male of Turkish descent, presenting with: progressive spastic gait since age 20 years premature alopecia pseudobulbar dysarthria cognitive impairment consanguineous background Roeben B. et al. © 2015 American Academy of Neurology

Cerebral and cervicospinal MRI and alopecia Figure: MRI shows typical confluent leukoencephalopathy (A; FLAIR) including the capsula externa, thalamus (B; FLAIR), a pontine linear hyperintensity (characteristic “arc sign”2, C, T2w), and both acute (D, DWI; E; ADC map) and post (A-C) -ischemic defects(A-C). Leukocencephalopathy is combined with large disc herniation at C3/4 with myelopathy (G) and premature alopecia (F). Roeben B. et al. © 2015 American Academy of Neurology

When alopecia and disc herniations meet vascular leukoencephalopathy: CARASIL Cerebral and cervicospinal MRI revealed diffuse supra- and infratentorial leukoencephalopathy with recurrent subclinical subcortical infarcts and multiple disc herniations with cervical myelopathy. Targeted multi-gene panel-sequencing revealed a novel homozygous splice site mutation (c.1005+1G>T; p.?) in the HTRA1 gene, which is known to cause Cerebral Autosomal-Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CARASIL)1 , which predominantly occurs in Asians. While these MRI and clinical findings seem to present unspecific, frequent findings particulary in elderly patients, the combination signals the characteristic features of underlying CARASIL disease in young adults2. References 1. Hara K, Shiga A, Fukutake T et al. Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease. N Engl J Med. 2009 Apr 23;360(17):1729-39. doi: 10.1056/NEJMoa0801560. 2. Nozaki H, Sekine Y, Fukutake T, et al. Characteristic features and progression of abnormalities on MRI for CARASIL. Neurology. 2015 Aug 4;85(5):459-63. Roeben B. et al. © 2015 American Academy of Neurology