OBJECTIVE: To report a patient with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) manifesting as lumbago, hunchback and Parkinson's syndrome. METHODS: A 49-years-old male CADASIL patient was reported. Results of clinical examination, neuroimaging and genetic testing were analyzed. His family members were also subjected to genetic testing. Related literature was reviewed. RESULTS: The patient had no typical symptoms of CADASIL such as headache, repeated stroke, dementia and emotional disorders, but progressive Parkinson's syndrome, late onset lumbago, hunchback, dysphagia, and diplopia. Brain MRI showed left basal ganglia and external capsule lacunar infarction. Genetic testing revealed a point mutation c.1630C>T (p.R544C) in exon 11 of the NOTCH3 gene. A heterozygous mutation was detected in the same gene in his mother, elder sister and younger brother, all of whom showed different clinical phenotypes. CONCLUSION The clinical features of CADASIL are heterogeneous. Lumbago, humpback, and Parkinson's syndrome may be a rare clinical phenotype of CADASIL.
CADASIL ; complications ; genetics ; Humans ; Low Back Pain ; etiology ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Mutation ; Parkinson Disease ; etiology ; Receptor, Notch3 ; genetics

Objective The purpose of this study was to produce cut-off values of fetal pulmonary artery stenosis (PS),allowing the application of Z-scores to evaluate fetal pulmonary artery.Methods A total of 214 normal singleton fetuses and 107 singleton fetuses with PS were included in this study.They were measured for standard biometry:biparietal diameter (BPD) and femoral diaphysis length (FL) and an assessment of gestation age (GA).The standardized fetal echocardiographic measurements included diameters of pulmonary valve annulus (PV),pulmonary artery (PA),ductus arteriosus (DA) and aorta (AO).Then we calculated the Z-scores from parameters of fetal size.The Z-scores differences of PV,PA,DA and AO in PS group were compared.The receiver operator characteristic (ROC) curves of PV and PA Z-scores were obtained by statistical analysis.Results Compared with the normal group,the Z-scores of PV,PA and DA decreased in the PS group,whereas the Z-scores of AO increased (P ＜0.01 for all).The critical values of Z-score for PV in diagnosing PS with BPD,FL and GA as variables were-1.13,-1.33,-1.28,with sensitivity 94.2％,90.3％,93.5％,specificity 60.0％,65.0％,62.5％,respectively.The critical values of Z-score for PA with BPD,FL and GA as variables were-1.01,-0.98,-1.01,with sensitivity 96.8％,96.8％,96.1％,specificity 65.0％,65.0％,62.5％,respectively.Conclusions In the fetus with pulmonary artery stenosis,PV,PA and DA Z-scores decreased,while AO Z-scores increased.The pulmonary artery Z-scores had important application value in quantitative evaluation and diagnosis of mild fetal pulmonary artery stenosis.

Objective: To report a patient with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) manifesting as lumbago, hunchback and Parkinson’s syndrome. Methods: A 49-years-old male CADASIL patient was reported. Results of clinical examination, neuroimaging and genetic testing were analyzed. His family members were also subjected to genetic testing. Related literature was reviewed. Results: The patient had no typical symptoms of CADASIL such as headache, repeated stroke, dementia and emotional disorders, but progressive Parkinson’s syndrome, late onset lumbago, hunchback, dysphagia, and diplopia. Brain MRI showed left basal ganglia and external capsule lacunar infarction. Genetic testing revealed a point mutation c. 1630C>T (p.R544C) in exon 11 of the NOTCH3 gene. A heterozygous mutation was detected in the same gene in his mother, elder sister and younger brother, all of whom showed different clinical phenotypes. Conclusion The clinical features of CADASIL are heterogeneous. Lumbago, humpback, and Parkinson’s syndrome may be a rare clinical phenotype of CADASIL.