Multiple Acyl-CoA dehydrogenation deficiency (MADD) is an autosomal recessive disorder of fatty acid oxidation and amino-acid metabolism. Most patients with late-onset MADD are well responsive to treatment with riboflavin, which is also termed as riboflavin-responsive MADD (RR-MADD). In this study, we summarized the clinical profiles and genetic features of 13 Chinese patients with RR-MADD and reanalyzed the existing data on RR-MADD patients in Mainland China. In a cohort comprising 13 patients, all were seen to present with severe muscular symptoms occasionally accompanied with mild involvements of extramuscular organs. A total of 18 mutations (13 reported and 5 novel) of the ETFDH gene were identified in this series of patients. Exon deletion/duplication was not found in all patients. ETF:QO expression from the muscle specimens was significantly decreased in all patients. At the time of this study the total number of RR-MADD cases had reached 148 in Mainland China since 2009. The muscle symptoms in Mainland China were similar to those in other regions. However, the common extramuscular symptoms were fatty liver and recurrent vomiting in mainland Chinese patients rather than encephalopathy found in Caucasian patients. A total of 68 mutations had been identified in 148 patients with RR-MADD. The c.250G>A had a high mutation frequency in Southern China, whereas c.770A>G and c.1227A>C were more geographically widespread hot spot mutations in Mainland China.

Background and PurposeLittle is known about the interactions between the default mode network (DMN) subregions in relapsing-remitting multiple sclerosis (RRMS). This study used diffusion tensor imaging (DTI) and resting-state functional MRI (rs-fMRI) to examine alterations of long white matter tracts in paired DMN subregions and their functional connectivity in RRMS patients.MethodsTwenty-four RRMS patients and 24 healthy subjects participated in this study. The fiber connections derived from DTI tractography and the temporal correlation coefficient derived from rs-fMRI were combined to examine the inter-subregion structural-functional connectivity (SC-FC) within the DMN and its correlations with clinical markers.ResultsCompared with healthy subjects, the RRMS patients showed the following: 1) significantly decreased SC and increased FC in the pair-wise subregions; 2) two significant correlations in SC-FC coupling patterns, including the positive correlation between slightly increased FC value and long white matter tract damage in the PCC/PCUN-MPFC connection, and the negative correlations between significantly increased FC values and long white matter tract damage in the PCC/PCUN-bilateral mTL connections; 3) SC alterations [log(N track) of the PCC/PCUN-left IPL, RD value of the MPFC-left IPL, FA value of the PCC/PCUN-left mTL connections] correlated with EDSS, increases in the RD value of MPFC-left IPL connection was positively correlated to the MFIS; and decreases in the FA value of PCC/PCUN-right IPL connection was negatively correlated with the PASAT; 4) decreased SC (FA value of the MPFC-left IPL, track volume of the PCC/PCUN-MPFC, and log(N track) of PCC/PCUN-left mTL connections) was positively correlated with brain atrophy.ConclusionsIn the connections of paired DMN subregions, we observed decreased SC and increased FC in RRMS patients. The relationship between MS-related structural abnormalities and clinical markers suggests that the disruption of this long-distance “inter-subregion” connectivity (white matter) may significantly impact the integrity of the network's function.

BackgroundReversible splenial lesion syndrome (RESLES) is a disorder radiologically characterized by reversible lesion in the splenium of the corpus callosum (SCC). Most of patients with RESLES associated with encephalitis/encephalopathy were identified in Japanese population, but almost no Chinese patients were diagnosed as RESLES associated with encephalitis/encephalopathy.MethodsPossible patients with reversible isolated SCC lesions were retrieved from January 2012 to July 2015 using keyword “restricted diffusion and isolated SCC lesion” in MRI report system from a large academic center. The clinical, laboratory and radiological data were summarized.ResultsA total of 15 encephalitis/encephalopathy patients (9 males and 6 females) were identified with a reversible isolated SCC lesion. Except for 13 patients with fever symptom, 8 patients also had cold symptoms before the onset of neurological symptoms. The neurological symptoms included headache, vertigo, seizure, disturbance of consciousness, and delirious behavior. Thirteen patients completely recovered within 1 month, but 2 patients who were subjected to mechanical ventilation had persistent neurological deficits. The initial MRI features showed isolated ovoid or extending SCC lesions with homogeneous hyperintense on diffusion weighted imaging (DWI) and decreased apparent diffusion coefficient (ADC) values. The follow-up MRI revealed that isolated SCC lesions with diffuse restriction disappeared at 10 to 32 days after the initial MRI study. Fractional anisotropy map revealed the decreased value of SCC lesion in a severe case with poor prognosis.ConclusionsRESLES associated with encephalitis/encephalopathy is a reversible syndrome with an excellent prognosis in most patients, while a few patients required ventilator supporting at the early stage might have severe neurological sequelae. Reversible signal changes on DWI and ADC are identified in all patients, but fractional anisotropy values can be decreased in severe patient with neurological sequelae.Electronic supplementary materialThe online version of this article (doi:10.1186/s12883-016-0572-9) contains supplementary material, which is available to authorized users.

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Background and purposeThe effects of the interactions between the default mode network (DMN) and the dorsal attention network (DAN), which present anticorrelated behaviors, in relapsing-remitting multiple sclerosis (RRMS) are poorly understood. This study used resting-state functional connectivity (FC) and the Granger causality test (GCT) to examine changes in the undirected and effective functional network connectivity (FNC) between the two networks during the remitting phase in RRMS patients.Patients and methodsThirty-three patients experiencing a clinically diagnosed remitting phase of RRMS and 33 well-matched healthy control subjects participated in this study. First, an independent component (IC) analysis was performed to preprocess the functional magnetic resonance imaging data and select resting-state networks. Then, an FNC analysis and the GCT were combined to examine the temporal correlations between the ICs of the DMN and DAN and to identify correlations with clinical markers.ResultsCompared with the healthy subjects, the RRMS patients in the remitting phase showed the following: 1) significantly decreased FC within the DAN in the postcentral gyrus and decreased FC within the DMN in several regions except the parahippocampal gyrus, where increased FC was observed; 2) a relatively stable interaction between the two anticorrelated networks as well as a driving connectivity from the DAN to DMN (IC15); and 3) significantly positive correlations between the connectivity coefficient of the right superior temporal gyrus and the Modified Fatigue Impact Scale score (ρ = 0.379, p = 0.036).ConclusionAdaptive mechanisms that maintain stable interactions might occur between the DMN and DAN during the remitting phase in RRMS patients.