[CADASIL with clinical manifestations of baldness, lumbago and Parkinson’s symptoms].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Dec 10;34(6):821-825
Authors: Ren Z, Chen S, Shi Y, Zhang Y, Wang W, Chen Z, Xia M, Shi X, Zhang J
OBJECTIVE: To research a cerebral autosomal dominant arteriopathy with the subcortical infarcts and leukoencephalopathy (CADASIL) case with medical manifestations of baldness, lumbago and Parkinson’s signs.
METHODS: Medical and imaging information of the affected person had been analyzed. The affected person and his members of the family had been additionally subjected to genetic testing.
RESULTS: The signs of the affected person included recurrent stroke, dementia, and temper disturbance, as well as with lumbago, baldness and Parkinson’s signs however no migraine. Cranial MRI of the affected person confirmed bilateral symmetric leukoencephalopathy and a number of small subcortical lacunar infarcts. Some extent mutation in exon 11 of the NOTCH3 gene (R558C) was found within the proband and 4 asymptomatic kinfolk.
CONCLUSION: CADASIL is characterised by recurrent subcortical ischemic stroke, dementia, pseudobulbar palsy, and temper disturbance. Baldness, lumbago and Parkinson’s signs might also be seen in such sufferers.
PMID: 29188608 [PubMed – indexed for MEDLINE]