1. 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

2. 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

3. 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

4. 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 G>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 Apr 23;360(17): doi: /NEJMoa
2. Nozaki H, Sekine Y, Fukutake T, et al. Characteristic features and progression of abnormalities on MRI for CARASIL. Neurology Aug 4;85(5):
Roeben B. et al.
© 2015 American Academy of Neurology