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Objective:To explore the value of arterial spin labeling (ASL) in detecting epileptogenic zone (EZ) in children with drug-refractory epilepsy (DRE).Methods:From March 2018 to December 2019, 28 children with DRE were collected prospectively in Peking University First Hospital. Structural MRI, ASL sequence, and PET-CT were performed on 28 DRE children. All children underwent surgical treatment. Intraoperative electrocorticogram findings combined with postoperative MRI results were considered the gold standard for locating EZ. A total of 29 EZ were resected in 28 children. Based on the pathological results, the EZ was divided into focal cortical dysplasia (FCD) Ⅰb and Ⅱa group ( n=12), FCD Ⅱ b group ( n=11) and malformation of cortical dysplasia (MCD) group ( n=6). Structural MRI was observed for finding any abnormal changes that could induce epilepsy and was divided into the normal MRI group ( n=13) and the abnormal MRI group ( n=16). The spatial relationship between abnormal areas in the cerebral blood flow (CBF) map and PET images and the gold standard was observed, and the accurate detection rate of EZ was calculated. The region of interest (ROI) on CBF and PET images was drawn. ROIs were defined as EZ, EZ contralateral zone (EZCZ), EZ adjacent zone (EZAZ), EZAZ contralateral zone (EZAZCZ). The CBF and maximum standardized uptake value (SUV max) were measured, and the asymmetry index (AI) value of EZ and EZAZ of CBF and SUV max was calculated respectively. One-way ANOVA was used to compare the difference among 4 regions and 3 pathological types of CBF, SUV max, and AI. The independent sample t-test was used to compare the difference in AI between normal and abnormal MRI groups. Results:In CBF map, the EZ was accurately localized in 89.7% (26/29) of the lesions, in which 24 EZ had decreased perfusion, and 2 EZ had increased perfusion. Among the 24 EZ with decreased perfusion, the CBF of EZ, EZCZ, EZAZ, and EZAZCZ were significantly different( F=8.79, P<0.001). In PET-CT, the EZ was accurately localized in 93.1% (27/29) of the lesions, in which 25 EZ had decreased metabolism, and 2 EZ had increased metabolism. Among the 25 EZ with decreased metabolism, the SUV max of EZ, EZCZ, EZAZ, and EZAZCZ were significantly different ( F=6.40, P=0.001). The AI value of CBF and SUV max of EZ in the abnormal MRI group were larger than those of the normal MRI group, and the difference was statistically significant ( t=3.34, 3.09, P=0.002 , 0.004). There was no statistical difference in the AI values of CBF and SUV max among FCD Ⅰb and Ⅱa group, FCD Ⅱb group and MCD group ( F=2.05, 1.54, P=0.149, 0.234). Conclusions:ASL technology is accurate in detecting EZ. The changes in perfusion and metabolism of normal structural MRI EZ are greater than abnormal structural MRI EZ. There is no obvious difference in CBF and SUVmax changes in different pathological EZ.
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Objective:To investigate the clinical features, imaging features, treatment options and prognosis of linear scleroderma with central nervous system involvement.Methods:One case of linear scleroderma " en coup de sabre" (LSES) school-age child suffering from dizziness, vomiting and blurred vision was admitted to the Department of Pediatrics, Peking University First Hospital on March 25, 2019.The curative effect was observed after treatment.The relevant literature was searched, and the characteristics of cases and therapeutic effects were reviewed.Results:The clinical features of this case included recurrent and transient dizziness, vomiting, and blurred vision.Cranial imaging indicated abnormal signals in the left frontotemporal lobe white matter, cingulate gyrus, basal ganglia region, and corpus callosum proximal pressure part, multiple soft meningeal line enhancement and abnormal brain substance enhancement on the brain surface in the lesion area.After 2 months of combined treatment with Methotrexate(MTX) and corticosteroids, some symptoms such as dizziness and vomiting disappeared.Three months after the treatment, in the primary cerebral hemisphere and multiple calcifications in the brain parenchyma, the lesions significantly reduced in cranial imaging.The child was followed up for 11 months and displayed no clinical symptoms.New hair was dense at the alopecia area, and skin color, texture and grain were close to normal at the damaged area.In the review of domestic literature, treatment and prognosis were not involved.Foreign literatures reported 5 cases of children, with the first choice of Methylprednisolone being combined with MTX treatment, significant effect was observed, and consistent with the treatment of this case.Conclusions:In order to detect and treat them as early as possible and improve the prognosis, LSES patients should undergo cranial integrity assessment and neurological imaging examination at an early stage, regardless of clinical manifestations of nervous system involvement.
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Objective To evaluate the fatty infiltration of lower limbs (pelvis, thighs and calf) by using iterative decomposition of water and fat with asymmetry and least squares estimation‐quantitative fat imaging (IDEAL‐IQ) in Duchenne muscular dystrophy (DMD) patients, and correlate muscle fat fraction(FF) with clinical assessments. Methods The prospective study method was applied, twenty‐one patients with DMD were diagnosed by genetic analysis and/or muscle biopsy and twenty‐one age‐matched healthy control subjects, were evaluated using IDEAL‐IQ, calculating fat fraction (FF) of muscles in the lower limbs. The clinical data of patients, such as age, height, weight, course of disease, time to walk 10 m, Medical Research Council Scale score, were collected. The age and height between DMD group and control group were compared by independent sample t test. The weight, BMI and FF values between two groups were compared by independent samples nonparametric tests (Mann‐Whitney U tests). K related samples nonparametric test (Friedman test) was used for comparison of FF values between pelvic muscles, thighs muscles and calf muscles. The relationships between FF values and clinical assessments were investigated using Spearman correlation test. Results The mean FF of pelvic muscles [13.1(6.9, 33.8)] was significantly higher than that of the thighs muscles [8.3 (23.4, 4.5)] and calf muscles [8.3 (23.4, 4.5)] (all P<0.05) in DMD group. The FF of all the pelvic muscles in DMD were significantly higher than that of the control group muscles (all P<0.05). The gluteus maximus had the greatest mean FF values [34.7 (26.4, 63.7)] in pelvic muscles. The FF of all the thigh muscles in DMD were significantly higher than that of the control group muscles, except for the sartorius, adductor longus and gracilis (Z=0.69, 1.67 and 1.22, respectively, P=0.489, 0.094 and 0.222, respectively). The adductor magnus had the greatest mean FF values [27.2 (12.4, 58.5)] in thigh muscles. The FF of all the calf muscles in DMD were significantly higher than that of the control group muscles, except for the tibialis anterior and tibialis posterior (Z value was1.77 and 1.85, respectively, P value was 0.076 and 0.064, respectively). The gastrocnemius lateral had the greatest mean FF values [7.4 (4.6, 20.9)] in calf muscles. The mean FF value of pelvic muscles (r=0.679, 0.704,?0.761, 0.755, respectively, all P<0.001), thighs muscles (r=0.801, 0.813,?0.738, 0.706, respectively, all P<0.001) and calf muscles (r=0.502, 0.682,?0.637, 0.664, respectively, all P<0.05) were significantly correlate with age, course of disease, %MRC and time to walk 10 m. Conclusions The fat infiltration of lower limbs in DMD patients showes a distinct involvement pattern. IDEAL‐IQ technique is able to quantitatively and objectively evaluate the degree of fat infiltration of lower limbs in DMD, and it has great value in clinical application.
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Objective To summarize the clinical and electroencephalogram features of neuronal ceroid lipofus-cinosis (NCL). Methods A retrospective analysis of the clinical phenotypes and electroencephalogram features of pa-tients diagnosed with NCL in Department of Pediatrics,Peking University First Hospital from February 2000 to August 2015 were conducted. Results Among the 30 patients,18 were male and 12 were female. The age of onset was between 9 months to 7 years old. The first symptoms included seizure in 22 patients,psychomotor developmental delay or regre-ssion in 7 cases,and visual loss in 1 case. Clinical manifestations included psychomotor regression in 29 cases,epilepsy in 28 cases,visual impairment in 19 cases,ataxia in 20 patients,and positive pyramidal tract sign in 13 cases. Twenty-one patients accepted fundus oculi examination. Seven patients were found with macular degeneration,8 cases with optic nerve atrophy,2 cases with retinal pigment degeneration,and 8 patients were normal. Brain atrophy were found in all 30 cases,including diffuse brain atrophy in 14 cases,only cerebellar atrophy in 6 cases,and cerebral atrophy with periven-tricular T2W high signal in 10 cases. Video electroencephalogram(EEG)examination was performed in 27 patients and their backgrounds were diffuse slow waves. Seven patients didn't have physiological vertex sharp waves or sleep spin-dles. Generalized epileptiform discharges were captured in 6 cases,focal epileptiform discharges in 15 cases. Both of generalized and focal epileptiform discharges were captured in 6 cases. Generalized slow wave burst in 4 cases,and in-termittent photic stimulation evoked epileptiform discharges in 3 cases. Ten patients were observed with clinical sei-zures,including 4 cases of myoclonic episodes,3 cases of atypical absences,3 cases of focal seizures,1 case of atonic and one of tonic spasms. Peripheral blood enzyme examination was taken in 13 patients,among whom 8 patients were identified with tripeptidyl peptidase 1 (TPP1)deficiency and 1 patient with palmitoyl protein thioesterase 1 (PPT1) deficiency. Twenty-eight patients accepted skin and/or muscle electron microscope examination. Osmiophilic granular was found in 2 cases,curvilinear bodies in 15 cases,fingerprint profiles in 2 cases,curvilinear and linear bodies in 1 case,fingerprint profiles and osmiophilic granular in 1 case. NCL-related gene detection was conducted in 3 patients, with 1 patient identified with CLN6 compound heterozygous mutations and 2 patients with TPP1 homozygous mutations. Thirty patients were classified into 3 groups based on the onset age,enzymatic examination results and pathological examination of skin and muscle,including 5 cases of infantile NCL,20 cases of late-infantile NCL,and 5 cases of juvenile NCL. Conclusions The clinical features of NCL included multiple types of epileptic seizures (among which myoclonus was the most common type),psychomotor developmental delay or regression,vision loss,ataxia,and positive pyramidal tract sign. Its MRI was characterized with brain atrophy. EEG showed diffuse slow wave activity,with focal and/or generalized epileptiform discharges. Specific enzyme examination,and skin or muscle pathology or gene test could help to make diagnosis.
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Objective To evaluate the coronary microvascular dysfunction in patients with hypertrophic cardiomyopathy(HCM) by MR first-pass perfusion and late gadolinium enhancement. Methods From January 2011 to May 2015, 47 cases with HCM (HCM group) from the second affiliated hospital of Nanchang University were retrospectively analyzed. Additionally, 21 healthy volunteers were recruited as the control group. HCM group and control group underwent cardiac MR examinations at rest, including short axial cine, first-pass myocardial perfusion and late gadolinium enhancement scanning. Time to peak(tpeak), maximal upslope of time-intensity curve(Slopemax), peak signal intensity(SIpeak), myocardial thickening, and late myocardial gadolinium enhancement(LGE) were assessed for each myocardial segment. HCM group were divided into LGE segments group and non-LGE segments group. LGE segments group were divided into mild, moderate and severe LGE segments group. The SIpeak, Slopemax and tpeak in multiple groups were compared by one-way ANOVA and Kruskal-Wallis test. Spearman correlation tests were used to determine the relationships between perfusion parameter and LGE. Results The average values of tpeak in non-LGE segments group (527 segments), LGE segments group (225 segments) and control group (336 segments) were (67.0 ± 27.4), (79.4 ± 27.4), (59.7 ± 21.6)s, respectively. The average values of Slopemax in the three groups were 17.2±7.0, 16.4±7.4, 20.4±6.3, respectively. The average values of SIpeak in the three groups were 442.7 ± 143.2, 465.1 ± 138.4, 521.9 ± 146.7, respectively. Compared to the control group, tpeak increased and Slopemax, SIpeak decreased in non-LGE segments group and LGE segments group (P0.05). There were significant differences among LGE segments groups, as the tpeak and SIpeak increased with increasing degrees of myocardial LGE (P0.05). The degree of LGE were positively correlated with tpeak (r=0.237, P<0.01). Conclusions 3.0 T magnetic resonance myocardial perfusion imaging can show microvascular dysfunction accurately and reliably in non-LGE segments. It may be helpful in the early diagnosis of coronary microvascular dysfunction for HCM.
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Objective To observe MRI features of intracranial changes in phenylketonuria (PKU) patients.Methods Brain MRI findings of clinically diagnosed 13 PKU patients were analyzed retrospectively.The structure and signal changes of cerebrum,cerebellum and brainstem were observed.Results Posterior horn and triangle high signals were shown in white matter of bilateral lateral ventricle of all 13 patients on T2WI,while the optic radiation was spared.Periventricular white matter abnormal signals at body and anterior horn bilateral lateral ventricle (n=12),bilateral basal ganglia involvement (n=1),extensive white matter involvement (n=1),backward myelination and agenesis of corpus callosum (n=3),and mild macrogyria deformity (n=1) were found.The high signals in lateral periventricular white matter were shown on DWI,with reduction of ADC values in 6 cases.Conclusion Abnormal high signals in brain posterior horn and triangle white matter,optic radiation spared,and corpus callosum and cortical malformations are brain MRI appearances in brain of PKU.
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Objective:To report thigh muscle magnetic resonance imaging (MRI)tests of four Chinese patients with dystrophinopathy with edema changes in adductor longus muscles that mimics adductor en-thesopathy.Methods:Four boys,who were from four unrelated families and aged from 5 to 11 years, were investigated because of the clinical manifestations including myalgia or muscle weakness or the inci-dental findings of elevated serum creatine kinase levels,and were diagnosed with dystrophinopathy by gene test of Duchenne muscular dystrophy (DMD).Their creatine kinase levels were increased from 4 087 IU /L to 32 700 IU /L (Normal range:75 -175 IU /L).The muscle biopsy of three patients all demonstrated a dystrophic pattern including necrosis,regeneration,hypertrophy,atrophy and connective tissue proliferation,with different proportions of dystrophin-negative muscle fibers.The gene test of DMD showed an out-frame deletion of exons in three of the four patients,involving either exons 45 or exons 49 -52 deletion or exon 62 duplication,and c.2665 C >T with nonsense mutation in the other one. Muscle MRI tests of the bilateral thighs were performed with T1 weighed sequence and slow tau inversion recovery sequence.The degree of fatty infiltration changes was scored.Results:MRI of the thigh mus-cles showed mild to severe fatty infiltration changes in T1 weighed sequence with the total scores from 2 to 13.The most severe fatty infiltration changes were in the long head of biceps femoris and adductor mag-nus.Obvious hyperintensities appeared mainly in the adductor longus muscles on slow tau inversion re-covery (STIR)images in all the patients without any abnormal signals in the attachment of the ligament, indicating edema changes of the adductor longus muscles which mimiced adductor enthesopathy.Two of the four patients presented with edema changes in the bilateral adductor longus muscles,while the other two were with only unilateral changes.Furthermore,other thigh muscles,including adductor magnus, semitendinosus,sartorius and rectus femoris muscles,could also have mild edema changes in two of the four patients.Conclusion:Dystrophinopathy can manifest as edema changes in the adductor longus mus-cles in thigh muscle MRI tests,which is a typical lesion in adductor enthesopathy.The adductor longus muscles in the dystrophinopathy patients may be easy to be impaired due to traction injury during sports.
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Objective:To describe a method based on analysis of the histogram of intensity values pro-duced from the magnetic resonance imaging (MRI)for quantifying the degree of fatty infiltration. Methods:The study included 25 patients with dystrophinopathy.All the subjects underwent muscle MRI test at thigh level.The histogram Mvalues of 250 muscles adjusted for subcutaneous fat,representing the degree of fatty infiltration,were compared with the expert visual reading using the modified Mercuri scale.Results:There was a significant positive correlation between the histogram Mvalues and the scores of visual reading (r =0.854,P <0.001).The distinct pattern of muscle involvement detected in the pa-tients with dystrophinopathy in our study of histogram M values was similar to that of visual reading and results in literature.The histogram M values had stronger correlations with the clinical data than the scores of visual reading as follows:the correlations with age (r =0.730,P <0.001 )and (r =0.753, P <0.001);with strength of knee extensor (r =-0.468,P =0.024)and (r =-0.460,P =0.027) respectively.Meanwhile,the histogram Mvalues analysis had better repeatability than visual reading with the interclass correlation coefficient was 0.998 (95% CI:0.997 -0.998,P <0.001)and 0.958 (95%CI:0.946 -0.967,P <0.001)respectively.Conclusion:Histogram Mvalues analysis of MRI with the advantages of repeatability and objectivity can be used to evaluate the degree of muscle fatty infiltration.
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Objective To analyze the characteristics of fat infiltration into the muscles of patients with Becker and Duchenne muscular dystrophy (DMD) so as to provide a guide for rehabilitation therapy.Methods Twenty-three children with Becker muscular dystrophy (BMD) and 47 with DMD who had never been treated with glucocorticoids were enrolled.MRI was performed on both of their thigh muscles.T1 weighted images were used to assess the fat infiltration of their thigh muscles using a 0-5 modified version of Mercuri's scale.The progression of fatty infiltration of the thigh muscles in BMD was analyzed using descriptive statistics.The differences in fat infiltration between BMD and DMD were analyzed using rank sum tests.Results In patients with BMD the adductor magnus most often showed severe fat infiltration,followed by the biceps femoris,quadriceps,semimembranosus and semitendinosus,while the sartorius,gracilis and adductor longus had the lowest percentages of severe fat infiltration.Among the BMD patients the adductor magnus,biceps femoris and quadriceps showed moderate to severe involvement at the age of 8 to 9.The semimembranosus and semitendinosus showed moderate to severe involvement at the age of 10 to 11,and the sartorius,gracilis and adductor longus showed mild to moderate involvement after 15 years of age.Among the age groups of 8,9,10 and 11 years old,the median total fat infiltration scores were 10,22,28 and 25 respectively among the BMD patients,and 29,34,34 and 30 respectively among the DMD patients.At age 8 significant differences between the BMD and DMD patients were observed in the infiltration scores of the adductor magnus,biceps femoris,vastus lateralis,rectus femoris,vastus medialis,vastus intermedius and in the total scores.At age 9 significant differences persisted in the scores of the adductor magnus,rectus femoris,vastus medialis,vastus intermedius and the total scores.Conclusions The muscle MRIs showed significant differences in the degree of fatty infiltration between BMD and DMD patients.These findings may be useful when designing therapeutic regimens and rehabilitation programs for patients with BMD and DMD.
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Objective To analyze the clinical data and TUBB4A mutation of hypomyelination with atrophy of the basal ganglia and cerebellum (HABC)in a family,thus to provide accurate genetic counseling and prenatal diagno-sis for this family with HABC,and also to provide clinical experience for the diagnosis of HABC in China.Methods The clinical data of the proband and her family members were collected at the Department of Pediatrics,Peking Univer-sity First Hospital,December 201 4,including medical history,physical signs,and brain MRI,biochemical tests and metabolic disease screening.The associated gene of hereditary leukoencephalopathy was screened for the proband and her family members were screened by targeting -high -throughput sequencing technology,and then the genetic varia-tions were verified by Sanger sequencing.With those detection methods,the gene mutation was confirmed,and then ge-netic features were analyzed.Results Clinical features were as follows:nystagmus as the first symptom,and motor and mental retardation,dystonia and ataxia followed.Brain MRI indicated hypomyelination of white matter and atrophy of the basal ganglia and cerebellum.The clinical diagnosis of HABC was established based on the clinical features and brain MRI features above.Genetics features showed that one novel TUBB4A c.974G >T heterozygous missense muta-tion was found from the proband,which caused an amino acid change from the Trp into Leu (p.Trp325Leu).Both of her parents with normal phenotype were of wild -type in this site.Conclusions The proband from this family was diagnosed clinically based on her clinical data.One novel TUBB4Ac.974G > T (p.Trp325Leu)was founded in this study.Therefore,the spectrum of TUBB4A mutation will be expanded.In addition,this study elucidated clinical and genetic characteristics in this family with HABC,which may lay a solid foundation for the accurate genetic counseling and prenatal diagnosis.This study reported the first case of HABC caused by TUBB4A mutation in China.
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Objective To investigate the characteristic MRI features of sporadic inclusion?body myositis(sIBM). Methods Clinical and MR imaging data of 6 patients with sIBM diagnosed by muscle biopsy from May 2013 to November 2014 were retrospectively analyzed. All patients showed insidious onset of lower limb muscle weakness and diagnosed as sIBM by muscle biopsies. All patients were evaluated by the score of the severity of fatty infiltration, inflammation and atrophy in MRI. Results All patients were observed fatty infiltration with different degrees. The fatty infiltration in thighs was characterized in a decreasing order of frequency:gluteus maximus (6 cases), vastuslateralis (6 cases), vastusintermedius (6 cases), vastusmedialis (6 cases), sartorius (5 cases), adductor magnus (5 cases), rectus femoris (4 cases), semi?membranosus (4 cases), semi?tendinosus (4 cases), biceps femoris (4 cases), gracilis (3 cases), adductor longus(2 cases).The fatty infiltration in thighs was characterized in a decreasing order of severity:vastuslateralis (3.2 points), vastusintermedius (3.2 points), vastusmedialis (3.0 points), adductor magnus (3.0 points), gluteus maximus (2.7 points), bicepsfemoris (2.2 points), semi?membranosus (2.1 points), semi?tendinosus (2.1 points), rectus femoris (1.5 points), sartorius (1.3 points), gracilis (0.8 points), adductor longus (0.7 points). All patients showed the features of distal distribution andsymmetry. Inflammation was observed in 3 patients. 1 patient only involved the vastuslateralis, the other 2 patients were observed muscle inflammation with different degrees in 12 muscles. Atrophy was observed in 5 patients. The atrophy in thighs was characterized in a decreasing order of frequency:vastuslateralis (5 cases), vastusintermedius (5 cases), vastusmedialis (4 cases), adductor magnus (4 cases), semi?membranosus (2 cases), rectus femoris (1 cases), sartorius (1 cases) and gluteus maximus;there was no atrophy in adductor longus, gracilis,semi?tendinosus, biceps femoris. Conclusion The MRI characteristic manifestations of sIBM is fatty infiltration and atrophy in the distal portion, particularly involving the vastuslateralis, vastusintermedius, vastusmedialis and adductor magnus.
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Objective To summarize the phenotypic features of an unrecognized leukoencephalopathy in infants sharing same clinical features,and to better understand the disease and provide new evidence for identification of new leukoencephalopathy. Methods Clinical and follow-up data of 13 patients with unrecognized infantile leukoen-cephalopathy were collected from Peking University First Hospital from January, 2006 to December, 2014. Results (1) There were 7 male and 6 female. The average age of onset was 11 months (4-25 months). Thirty-eight percent (5/13 cases) of patients had incentives before the onset;all of the cases had acute onset and rapid motor function regression. Fifteen percent (2/13 cases) of the patients suffered from seizures in the course of the disease. Patients′condition became stable,and cognition and motor function improved gradually 1 month after onset. No patient died till the last follow-up. (2) Imaging features:magnetic resonance imaging (MRI) of the patients was characterized by im-plicating deep white matter,presenting T1 hypointense,T2 and fluid attenuated inversion recovery ( FLAIR) hyperin-tense in the periventricular area. All of MRI showed massive and symmetric lesions with heterogeneous signal and cystic degeneration. DWI showed patch or massive hyperintense in some of the lesions. The follow-up MRI showed the original lesions decreased in 88% ( 8/9 cases ) of patients, and white matters atrophied in 55% ( 5/9 cases ) of patients;the cystic degeneration still existed and even expanded;DWI showed regional linear or spot hyperintense in 88% (8/9 cases) of patients,which was smaller than before,and distributed around the original lesions. Conclusions The patients with leukoencephalopathy caused by unknown pathogenic gene were much likely to be mitochondrial leukoencephalopathy. This study provided evidence for further exploration of new pathogenic genes causing leu-koence-phalopathy.
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Objective To investigate the MRI features of Fukuyama-type congenital muscular dystrophy(FCMD) in Chinese.Methods The MRI and clinical data of 3 patients with FCMD which had been diagnosed by gene analysis were retrospectively analyzed.Two females and one male were included in this study,and they underwent MR examination at 0.5,2.3,5.0 years old respectively.The main clinical manifestations were muscular hypotonia and severe developmental delay.Abnormalities on MR images were analyzed and recorded by two experienced radiologists.Results Unlayerdpoly microgyria involved in frontal lobes,numerous intraparenchymal cysts at the peripheral hemispheres and prolonged T1 and T2 signal in the white matter were found in all the 3 cases.Disorganized cerebellar folia,lissencephaly of cerebral cortices,flattened pons were detected in 2 cases.Cystic region of white matter incerebral cortices and enlarged fourth ventricle could be seen in one case.Conclusion There are typical MR imaging featuresof FCMD,and preliminary diagnosis can be made by the combination with clinical symptoms and biochemical analysis.
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Objective To analyze the dynamic evolution of brain MRI in patients with mitochondrial myopathy,encephalopathy,lactic acidosis,and stroke-like episodes (MELAS) syndrome.Methods A retrospective study was performed on 58 MELAS cases with pathologically and (or) molecularly confirmed diagnosis.MRI were repeated within 60 days after the onset of stroke-like episodes (SLE) and the evolution changes of cerebral lesions were accessed.Brain atrophy index (BAI) was calculated in the remission stage from 31 patients with MELAS,and the correlation between BAI,age and disease duration was analyzed.Results The proportion of lesions expansion,migration and shrink within 30 days after the onset of SLE was 64.1％ (25/39),10.2％ (4/39),17.9％ (7/39),respectively,and 13％ (3/23),21.7％ (5/23),56.5％ (13/23),between 30-60 days after the onset of SLE respectively.In the recovery stage of SLE,the BAI in 31 patients with MELAS was 15.2％ ±2.8％.The correlation coefficient between BAI and the age,total disease course and duration of encephalopathy was 0.329 (P =0.043),0.405 (P =0.012) and 0.649 (P =0.000).Conclusions Brain atrophy in the studied MELAS patients gradually develops and strokelike lesions shrink with progression of the disease.However,the migration of lesions is persistent.
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Objective To determine whether volume transfer coefficient (Ktrans )can be used to differentiate high-grade glioma (HGG)and metastasis.Methods Thirty-nine patients with brain tumors (12 HGG,27 metastases)underwent dynamic contrast en-hanced MR imaging before surgical resection or stereotactic biopsy.Images were acquired with a three-dimensional (3D)fast gradi-ent echo sequence.Gadolinium-based contrast agent was injected intravenously with dosage of 0.1 mmol/kg bodyweight at a rate of 3.0 mL/s.Ktrans and Ve were calculated from the DCE MRI data.The results of Ktrans and Ve were compared between the 2 types of tumors.Receiver operating characteristic curve analysis was performed for each of the variables in differentiation cerebral metastasis from HGG.Results The Ktrans values in the parenchyma of HGG and metastases were 0.10 (0.11,0.71)min-1 and 0.21 (0.05, 0.77)min-1 ,respectively.The difference was not statistically significant (P>0.05).The Ktrans values in the peritumoral region of the HGG and brain metastasis were 0.04 (0.01,0.10)min-1 and 0.01 (0.00,0.06)min-1 ,respectively.There was a significant difference between the Ktrans values in the peritumoral edema of HGG and cerebral metastases (P<0.05).The optimal cutoff value of Ktrans for differentiating HGG from cerebral metastases was 0.03,with sensitivity of 75% and specificity of 70%.Conclusion Ktrans values in the peritumoral edema may be useful in the differentiating cerebral metastases between HGG.
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<p><b>OBJECTIVE</b>To investigate the characteristics of a new clinical-image syndrome-mild encephalitis/encephalopathy with a reversible splenial lesion (MERS) of corpus callosum.</p><p><b>METHOD</b>The clinical and imaging features of one pediatric patient with the diagnosis of MERS were analyzed and the clinical and radiologic data of 44 MERS cases which were reported all around the world were also analyzed.</p><p><b>RESULT</b>The underlying disease of the patient before the onset was respiratory mycoplasma infection. On the second day of the disease course, the patient presented symptoms of encephalopathy. Brain MRI indicated lesions in the splenium of corpus callosum, centrum semiovate and posterior periventricular white matter. And these lesions recovered completely within 3 weeks. Most of the 44 patients diagnosed with MERS were associated with infectious diseases and completely recovered within two weeks. Symptoms included consciousness disturbance, convulsions and dysarthria. In addition to the splenium, brain MRI also showed lesions in genu of corpus callosum, centrum semiovate and white matter of frontal lobe.</p><p><b>CONCLUSION</b>The clinical presentations of MERS were sudden onset of symptoms of encephalopathy during acute inflammation. Brain MRI indicated a reversible lesion in the splenium of corpus callosum. Patients recover completely within a few days.</p>
Asunto(s)
Niño , Preescolar , Femenino , Humanos , Masculino , Infecciones Bacterianas , Encéfalo , Diagnóstico por Imagen , Patología , Cuerpo Calloso , Diagnóstico por Imagen , Patología , Imagen de Difusión por Resonancia Magnética , Electroencefalografía , Encefalitis , Diagnóstico por Imagen , Patología , Síndrome Mucocutáneo Linfonodular , Radiografía , VirosisRESUMEN
Objective To investigate the characteristics of muscle edema and fatty infiltration in thighs and relationship with clinical symptoms in Chinese patients with different phenotypes of dysferlinopathy.Methods A total of 32 patients were enrolled , including 13 limb-girdle muscular dystrophy 2B (LGMD2B), 13 Miyoshi myopathy (MM), 4 proximodistal myopathy and 2 hyper-creatine-kinase-emia.Clinical symptoms were evaluated using modified Gardner-Medwin and Walton ( GM-W) score.Muscle MRI was performed in thighs to observe fatty infiltration and edema.We then compared the age of onset , disease duration, GM-W score, muscle edema and muscle fatty infiltration between LGMD 2B and MM groups,and the relationship of muscle edema score and fatty infiltration score with disease duration and GM-W score in all patients.Results The median GM-W score was 4.00 (2.00,5.00) in all patients, 4.00 (3.00,4.50)in LGMD2B and 4.00(2.00,5.00)in MM, respectively.Muscle fatty infiltration appeared in 30 cases (93.75%), with the same pattern in LGMD2B and MM.The mean fatty infiltration score was 28.20 ±12.86 in all patients, 28.50 ±13.03 in LGMD2B and 29.00 ±12.63 in MM, respectively.Muscle edema appeared in 26 cases (81.25%) with same pattern in LGMB2B and MM.The mean edema score was 18.36 ±13.60 in all patients, 22.88 ±11.59 in LGMD2B and 16.77 ±13.80 in MM.The age of onset , disease duration, GM-W score, muscle fatty infiltration and edema score were not significantly different between LGMD2B and MM patients.Muscle fatty infiltration score significantly correlated with GM-W score (rs=0.737,P=0.000) and disease duration (rs=0.637,P=0.000).Conclusions Fatty infiltration and edema in thigh muscles are very common in patients with dysferlinopathy , with similar radiological changes in main subtypes.The muscle fatty infiltration can be used as a predictor of disease progression.
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Objective To analyze the clinical,molecular and genetic features of a Chinese family with WalkerWarburg syndrome(WWS).Methods The clinical data of the proband and his family members were collected.Genomic DNAs from the patient and his parents were extracted with standard procedures from the peripheral blood leukocytes.Polymerase chain reaction and DNA direct sequencing were employed to analyze all of the 20 exons of the POMT1 gene to determine the mutation,and the relationship between genotype and phenotype was analyzed.Results The proband presented with delayed psychomotor development,muscle hypotonia and early joint contractures,his serum creatine kinase was elevated moderately and the brain magnetic resonance imaging (MRI) displayed brain structural malformations,cerebellar cyst,bilateral dilatation of the lateral ventricle,cerebellum and brainstem dysplasia.Further genetic testing detected a compound heterozygous mutation of c.313C ＞ T,p.Arg105Cys inherited from his father,a frameshift mutation c.2208delG,p.Trp736X inherited from his mother,both of which were known as pathogenic mutations.Conclusions According to the study,the proband carried compound heterozygous mutation of POMT1 gene,and his parents were heterozygous carriers,which is consistent with autosomal recessive inheritance.The child is definitely diagnosed as WWS.Genetic counseling and prenatal diagnosis are available for this family.
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Objective To describe the MRI features of vanishing white matter disease (VWM).Methods Ten patients diagnosed as VWM between 2008-2013 were enrolled,with the mean age of(40 ±23)months.The clinical materials and MR images of them were reviewed retrospectively.The findings of MRI were analyzed by two experienced neuroradiologists in this study,including the location (cerebrum,cerebellum,brainstem,corpus callosum and internal/external capsule),size and signal intensity of the lesions,as well as the presence of cystic degeneration,cerebrum atrophy and the abnormal signal of the basal nuclei.Results MRI of brain typically showed extensive abnormal signal in the cerebral central white matter (10/10) and the focal lesion in subcortical white matter (9/10).The involvement of U-fibers was present in 7 cases.Cystic degeneration of the affected white matter was found in 7 cases.Abnormal signal also appeared in the white matter of posterior limb of the internal capsule (8/10),the external capsule (7/10),the inner rim (the callosal-septal interface) of the corpus callosum (8/10).The lesions of the thalamus and globus pallidus were detected in 2 cases.The white matter of the brainstem and cerebellum were involved in 6 and 7 cases respectively.Conclusion VWM typically shows a diffuse and symmetrical abnormal signal in the cerebral white matter with cystic degeneration on MRI,which is usually diagnostic.
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Objective To detect the differences of grey matter volume between the patients with mental retardation (MR) presented clinically as operation deficit (OD) or as language deficit (LD) and the children with typical normal development using optimal VBM.The developmental connections between brain gray matter and language or operation skills were examined.Methods Magnetic resonance imaging was obtained from 9 children with mental retardation presented as OD predominantly and 11 children with mental retardation presented as LD mainly,as well as the age-matched control group (11 and 14 normal children,respectively) on a 1.5 T scanner.Voxel-based morphometry analysis with an optimization of spatial segmentation and normalization procedures was applied to compare the volume of grey matter between the two groups (OD VS.control; LD VS.control).Statistically,the total and local gray matter volumes were compared between the two groups with t test.Results The total gray matter volume of OD group was [(1.030 ± 0.078) × 106 mm3].Compared to that of controls [(0.984 ± 0.058) × 106 mm3],it was increased significantly (t =-2.6,P ＜ 0.05).And the gray matter volume in the posterior cingulated gyrus,left superior prefrontal gyrus,left cuneus,left middle prefrontal gyrus and the body of left caudate nucleus showed significantly increased.Meanwhile,the total gray matter volume of the MR children presented as LD [(1.002 ± 0.068) × 106 mm3] showed significantly increased(t =-3.0,P ＜ 0.05) compared with that of control group [(0.957 ±0.057) × 106 mm3].The gray matter volume in bilateral thalami,the left inferior temporal gyrus,the left inferior frontal gyrus,and the left cerebellum of the LD group was more than that of normal children.Conclusion As revealed by VBM,there are differences in alterations of gray matter volume between MR children presented with OD and with LD relative to control.