Objective To summarize brain magnetic resonance imaging (MRI) features and differential diagnosis of sporadic Creutzfeldt-Jakob disease. Methods The clinic data of 8 probable Creutzfeldt-Jakob disease cases in our hospital were analyzed retrospectively from January 2009 to June 2014. We mainly analysed the characteristics of brain MR and the causes of misdiagnosis. We had followed up the family members of these patients on the progress and progno?sis of disease. We also analyzed the differential diagnosis of sCJD. Results All the patients presented with rapid progres?sive dementia and mental abnormal behavior as the main clinical manifestations. All the patients had abnormal routine EEG and five of them had a periodical sharp wave complexes. The brain MRI of the 8 patients showed high signal intensi?ties in cerebral cortex (and/or basal ganglia) on diffusion weighted images (DWI) and 5 of them had caudate nucleus and (or) putamen involvement. The lesions were first appeared in DWI imaging as“ribbon-like”high signal, followed by Flair as high signal intensities. lesions were low signal intensities on T1WI and high signal intensities on T2WI. Five pa?tients were misdiagnosed. 2 cases were misdiagnosed as having cerebral infarction,1 case was misdiagnosed as having vi?ral encephalitis, 1 case was misdiagnosed as having Alzheimer's disease, 1 case was misdiagnosed as having vertigo and 1 case was misdiagnosed as having corticobasal degeneration. Conclusions The brain MRI of the sCJD patients showed a certain characteristic. DWI is the most sensitive tool in the detection of lesions which is useful in the early diagnosis of this disease. We should distinguish sCJD form ischemic cerebrovascular disease, encephalitis, and other progressive de?mentia identification.

OBJECTIVE: To explore the origin and mechanism of small supernumerary marker chromosomes (sSMC) in three fetuses. METHODS: The three fetuses were predicted to have carried chromosomal abnormalities by non-invasive prenatal testing (NIPT). G-banding chromosomal karyotyping analysis were carried out on amniotic fluid samples of the fetuses and peripheral blood samples from their parents. Single nucleotide polymorphism array (SNP-array) was used to determine the origin, size and genetic effect of sSMCs. RESULTS: In fetus 1, SNP array has detected two microduplications respectively at 4p16.3p15.2 (24.7 Mb) and 18p11.32q11.2 (20.5 Mb) which, as verified by fluorescence in situ hybridization (FISH), have derived from a balanced 46,XY,t(4;18)(p15.2q11.2) translocation carried by its father. Fetus 2 has carried a de novo microduplication of 15q11.2-q13.3 (9.7 Mb). The sequence of SMC in fetus 3 has derived from 21q11.2-q21.1 (8.3 Mb), which was inherited from its mother. CONCLUSION Both NIPT and SNP-array are highly accurate for the detection of sSMC. SNP-array can delineate the origin and size of abnormal chromosomes, which in turn can help with clarification of sSMC-related genotype-phenotype correlation and facilitate prenatal diagnosis and genetic counseling for the family.
Chromosome Duplication/genetics* ; Female ; Fetus ; Humans ; In Situ Hybridization, Fluorescence ; Male ; Polymorphism, Single Nucleotide ; Pregnancy ; Prenatal Diagnosis ; Translocation, Genetic/genetics*