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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.
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Objective To compare the repeatability of radiotherapy placement between negative pressure vacuum pad (A group) and common soft pillow (B group) combined with a thermoplastic membrane immobilization technology in severe kyphosis patients with head and neck cancer.Methods From September 2013 to December 2014,22 cases of severe kyphosis patients with primary or secondary head and neck cancer who received radiotherapy were randomly divided into group A and group B.Padding waist hips with negative pressure vacuum pad and ordinary soft pillow were used so that the patients could lay in CT-Sim bed,and the head cushion was set on the headrest.After the fixing of thermoplastic head and neck shoulder membrane,CT-Sim was located.Every five times of radiotherapy were accompanied by CT-Sim school position once.In the direction of the last layer of right styloid process center point as the reference point,CT-sim software was used to measure the location change with left and right sides,head,and under direction (x,y,z,respectively) in patients,and the data were analyzed.Results Group A significantly reduced the osseous placement error between tags compared with group B (P ＜ 0.05).The average placement errors were as follows,x:(0.68±0.14) mm vs (1.15±0.77) mm,y:(0.48±0.23) mm vs (1.49±1.24) mm,z:(0.76±0.54) mm vs (2.11±1.02) mm,while the average transfer errors were as follows,x:(0.70±0.21) mm vs (1.15±0.93) mm,y:(0.50±0.31) mm vs (1.50±1.28) mm,z:(0.85±0.26) mm vs (1.77±0.88) mm.Conclusion Vacuum suction pad combined with thermoplastic membrane has good repeatability on radiotherapy positioning for severe kyphosis patients with head and neck cancer.