Objective To analyze the clinical and MRI images of testicular teratoma in children and to compare with pathological results.Methods The clinical and MRI data of 12 children with testicular teratoma confirmed by pathology were analyzed retrospec-tively.Results Of the 12 cases,6 cases were on the left testicle and 6 cases were on the right testicle.The clinical manifestations were all painless testicle enlargement.Of these,6 cases were accompanied by a slight increase of neuron-specific enolase,3 cases had increased alpha-fetoprotein(AFP),10 cases were mature teratoma,and 2 cases were immature teratoma.MRI findings showed that the lesions in 6 cases were cystic,with long T1 and T2 signals as the main signals,no reduction in lipid pressure image signals,no enhance-ment on the enhanced scan,and low signal on diffusion weighted imaging(DWI).The other 6 cases were cystic-solid lesions,mainly with mixed T1 and T2 signals,and showed uneven high signal on DWI.The cystic components were not enhanced on the enhanced scan,and the solid components were mildly to significantly enhanced.Among them,3 cases were accompanied by irregular flaky short T1 and long T2 signals,decreased lipid pressure image signals,1 case was accompanied by speckle long T1 and short T2 signals.And the envelope intact in all 12 cases.Conclusion The MRI findings of testicular teratoma in children are mostly cystic lesions,with few signs of fat and calcification,and no obvious invasion of peripheral structures.AFP examination is helpful for diagnosis.

Objective To observe CT and MRI manifestations of lipofibromatosis(LPF)in children.Methods Data of 16 children with LPF confirmed by pathology were retrospectively analyzed,and CT and MRI manifestations of lesions were observed.Results Among 16 cases,lesions with clear boundary were found in 4 cases but with unclear boundary in 12 cases,shaped regularly in 6 cases but irregularly in 10 cases,with incomplete capsule in 2 cases but without capsule in 14 cases.Fat predominant type lesions were detected in 6 cases,mainly characterized by scattered fibrous bands in the center or cloud like soft tissue density/signal on one side of lesion,without obvious boundary.Fibrous dominant type lesions were noticed in 8 cases,mainly present as loose morphology,multiple fibrous bands extending to surrounding area,with scattered cystic fat density/signal within the lesion.Balanced type LPF lesion was observed in 2 cases,mainly manifestated as regular shape mixed density/signal lesion with clear boundary.Among 12 cases who underwent enhanced scanning,mild progressive enhancement in the non-fat area were observed in 7 cases,obvious peripheral enhancement but not obvious central enhancement was found in 2 case,obvious homogeneous enhancement was noticed in 1 case,while no obvious enhancement was found in 2 cases.No obvious calcification,cystic changes nor bone destruction was detected.Conclusion CT and MRI manifestations of LPF included subcutaneous fat containing density/signal,often composed mainly of adipocytes or fibrous components,with mild progressive enhancement or significant enhancement,without obvious capsule,calcification,cystic changes nor bone destruction.

OBJECTIVE: To detect variant of TRNT1 gene in a child featuring sideroblastic anemia with B-cell immunodeficiency, periodic fever and developmental delay (SIFD). METHODS: The proband and his parents were analyzed through trio-whole exome sequencing. Sanger sequencing and bioinformatic analysis were carried out to verify the candidate variant sites associated with the clinical phenotype. RESULTS: Genetic testing showed that the proband has carried compound heterozygous variants of the TRNT1 gene, namely c.88A>G(p.Met30Val) and c.363G>T(p.Glu121Asp). Sanger sequencing confirmed that the variants were respectively inherited from his father and mother. The variants were unreported previously. By bioinformatic analysis, both variants were predicted to affect the stability of binding of the TRNT1 protein with tRNA. Based on the American College of Medical Genetics and Genomics standards and guidelines, c.88A>G and c.363G>T variants of TRNT1 gene were predicted to be uncertain significance (PM2+PP3+PP4) and likely pathogenic (PM1+PM2+PP3+PP4), respectively. CONCLUSION The c.88A>G (p.Met30Val) and c.363G>T(p.Glu121Asp) compound heterozygous variants of the TRNT1 gene probably underlay the disease in this patient. Above finding has enriched the spectrum of TRNT1 gene variants.
Genetic Testing ; Humans ; Nucleotidyltransferases

Objective To explore the value of MRI in prenatal diagnosis of fetal esophageal atresia and to provide assistance for prenatal counseling.Methods A retrospective analysis of fetal MRI data of 1 1 cases due to ultrasound findings of hydramnios,small gastric vacuoles or unclear findings,and 22 to 3 5 gestational weeks was performed.MRI sequences included singleGshot fast spin echo (SShFSE),sequence and balanced fast field echo (BFFE),freedom cervical and thoracic cross,sagittal and coronal sectional scans, especially sagittal scans were used to observe fetal esophagus and trachea.Results In 1 1 cases prenatal ultrasound showed that the gastric cavities were small in 6 cases,not seen in 3 cases,and normal in 2 cases;5 cases of amniotic fluid increased,and 6 cases were normal;2 cases were diagnosed as susepected esophageal atersia by ultrasound.Eight patients were diagnosed as fetal esophageal atresia by MRI;one case was missed;two patients underwent MRI to show normal esophageal.9 cases of fetus were diagnosed as esophageal atresia by autopsy or postnatal examination.The MRI findings of fetal esophageal atresia showed that the upper esophagus was expanded in 6 cases,the esophagus was never showed in 3 cases,of which 1 case was missed by MRI,with the esophagus not shown,normal size of stomach bubble and normal amount of amniotic fluid.Among 11 cases,combined with cardiac macrovascular malformation in 4 cases;bilateral kidney volume decreased in 1 case;ventricular dilated in 3 cases;and single umbilical artery in 1 case.6 patients underwent induction of labor during followGup;4 patients were born successfully,including 2 patients undergoing surgery;2 patients with normal esophagus;and 1 patient with 40 weeks of fetal death.The accuracy of MRI in diagnosis of esophageal atresia was 88.9%.Conclusion Using repeated scanning of SShFSE and dynamic BFFE sequence,we can accurately observe fetal esophageal track.Fetal MRI is helpful in the diagnosis of fetal esophageal atresia,which can be used as a complement of prenatal ultrasound diagnosis method.

Objective To investigate the application value of magnetic resonance enterography (MRE) with multiple sequences in detection of children bowel intestinal diseases .Methods Retrospective analysis of 35 patients with bowel diseases confirmed by clini‐cal results ,surgery and pathology was performed .The patients underwent MRE with multiple sequences including T 1WI ,fat‐suppressed T2 WI ,diffusion weighted imaging (DWI) ,single‐shot fast spin‐echo (SSh‐TSE) sequence ,rapid balance fast field echo (B‐FFE) ,and unenhanced and enhanced fat‐suppressed (FFE‐IP‐SPAIR) scans .Results SSh‐TSE showed the whole intestinal distribution in 34 patients (34/35);DWI showed the lesions with high signal in 29 (29/35);T1WI and fat‐suppressed T2 WI showed hyperintensity on T2WI in 3 ,slight hypointensity on T1WI and T2WI in 2 ,and hyperintensity on T1WI and hypointensity on T2WI in 1 .Enhancement of lesion was found in 28 ,and unenhancement was in 2 .Conclusion MRE with multiple sequences with more information ,sensitivity and non‐ionizing radiation ,can be used as an important method in diagnosis of children intestinal diseases .

Objective To analyze the imaging characteristics of hepatic involvement in Langerhans cell histiocytosis(LCH) in children on MRCP, MRI and CT. Methods Twenty-nine children from three children hospitals in China, who were diagnosed as hepatic involvement by disseminated LCH during Aug 2008 and Jan 2015 were included in this study. Their MRCP (n=16), MRI (n=22), contrast?enhanced CT (n=15) data were retrospectively analyzed. The stenoses and dilatation of the intrahepatic bile ducts, the common hepatic bile duct and its first order branches and the common bile duct were evaluated on the MRCP image. The size and shape of the liver, the imaging characteristics of the periportal lesions in the Glisson sheath and hepatic parenchymal lesions were also evaluated on the cross?sectional images. Results MRCP indicated alternative stenoses/dilatation of the bile duct tree (n=16), stenoses of the common hepatic duct and its first?order branches (n=15), partialindistinctness of the common bile duct (n=2) and multiple cystic lesions along the biliary tree (n=5). On the cross?sectional images, the periportal lesions in the Glisson sheath were observed in 28 children. On MRI, the periportal lesions were shown in all the 22 children with MRI, presented as hypo-signal intensity on T1WI, hyper?signal intensity on T2WI (n=11) or mixed?signal intensity on T1WI and T2WI (n=11); On CT, the periportal lesions were found in 14 of the 15 children with CT, presenting as low density (n=13) and mixed density (n=1). Multiple nodular or cyst?like parenchymal lesions were observed in 21 patients including 18 patients on MRI and 5 patients on enhanced CT. Sixteen patients presented as hypo?intensity on T1WI, hyper?intensity on T2WI and low density on plain CT, and 5 patients with iso? or hypo?intensity on T1WI, hypo?intensity on T2WI,and milder enhancement relative to the adjacent parenchyma on contrast?enhanced CT. Conclusions The imaging characteristics of hepatic involvement by LCH include alternative stenoses and dilatation of the intrahepatic ducts, stenoses of the common hepatic bile duct and its first?order branches on MRCP, the periportal lesions in the Glisson sheath and hepatic parenchymal nodular or cyst?like lesions on cross?sectional images.

Objective To retrospectively investigate the value of MR enterography(MRE) for detecting symptomatic Meckel diverticulum(MD) in pediatric patients.Methods We retrospectively selected 16 patients from our MR database patients who underwent MRE between June 2014 and September 2015.They were referred for MRE because of suspected MD after negative or inconclusive upper sonography or scintigraphy or for exclusion diagnosis.There were 13 males and 3 females,with a median age of 2.2 years of age ranging from 0.4 to 8.2 years old.The first symptom included unexplained gastrointestinal bleeding,abdominal pain,small-bowel obstruction,intussusception,vomiting and fever.Two experienced radiologists determined the diverticulum's location,shape,contents and peripheral structural abnormalities.Results MD were diagnosed by MRE in all children.A total of 13 MD and 3 intestinal duplication cysts were pathologically confirmed.The diverticulum's location included:the right lower quadrant in 2 cases,around the navel in 4 cases,the left lower quadrant in 4 cases,the middle quadrant in 2 cases and pelvic cavity in 1 case.The diverticulum's presented as a blind-ending fluid-filled or gas-filled structure in 11 cases and a solid-appearing mass in 2 cases.The wall of the diverticulum showed restricted diffusion,increased mural enhancement comparable with that of adjacent small bowel in 12 cases,and interruption of the wall continuity in 1 case.Hemorrhage in diverticulum appeared as hyperintensity on T1WI images and/or hypointensity on T2WI images in 2 cases.Extravasation of intravascular contrast medium into the gastrointestinal tract due to active bleeding from a Meckel diverticulum was detected in 2 cases.Peripheral structural abnormalities included soft-tissue stranding,adjacent mesenteric stranding and enhancement,free fluid,small-bowel obstruction and enlarged lymph nodes.Conclusion MRE may play an important role in the diagnosis of suspected symptomatic Meckel diverticula,particularly given its lack of ionizing radiation.

OBJECTIVETo analyze clinical and imaging features and genetic characteristics of Leigh syndrome with emergent pulmonary edema.

METHODThe clinical features and imaging data of 2 cases (1 male, 1 female) seen in Anhui Provincial Children's Hospital from 2012 to 2014 were analyzed and summarized. Venous blood samples were sent to Guangzhou Jinyu Medical Examination Center for genetic analysis. Peripheral blood DNA was extracted and amplified, then sent to a sequencing facility for presence of genetic mutation by comparing with the reference sequence (NC_012920.1).

RESULT(1) The first patient was a 7 months old boy. The second patient was a 7 months and 21 days old girl. They were presented with abnormal respiration and pulmonary hemorrhage required mechanical ventilation. The first patient had a similar attack after 4 months of his birth, whose psychomotor development was normal, and no abnormal neurological findings. The value of blood lactate was 1.58 mmol/L. The value of pyruvic acid was 0.25 mmol/L. The value of cerebrospinal fluid lactate was 6. 4 mmol/L, which was an abnormal increase. The second patient had abnormal nervous system development, which included motor development retardation and hypotonia. The value of blood lactate was 6. 8 mmol/L, pyruvic acid was 0.31 mmol/L. Cerebrospinal fluid lactate was 8.2 mmol/L. (2) Imaging data: chest X-ray revealed double lung effusion. Bilateral caudate nucleus and lentiform nucleus had high signal, and bilateral internal capsule forelimbs were affected in DWI sequence of head MRI. Hemispheres, basal ganglia, cerebral peduncle, cerebellum, pons, and splenium of corpus callosum had multiple abnormal signals in head MRI of the second patient. NAA peak showed significantly reduced lesion area in magnetic resonance blood-flow scanning, and Cho peak increased significantly, which were double lactate-peak. (3) Genetic testing: ATPase6 m.9185 t > C mutation was found in case 1 that was consistent with Leigh syndrome pathogenesis. Hybrid mutations (m. 10191 t > C) in mitochondrial DNA was found in case 2. Two cases with the diagnosis of Leigh syndrome was clear. They were given combined therapy, such as mechanical ventilation, limited fluid to alleviate lung exudation, coenzyme Q10, and L-carnitine. The illness of case 1 relapsed after discharge. But in case 2, there was no improvement. They both died after treatment was given up.

CONCLUSIONNeurological symptoms were common in Leigh syndrome, in which acute lung hemorrhage was rarely reported. Timely ventilator support can temporarily save lives, but fatality rate is high and prognosis is poor.

Brain ; pathology ; Carnitine ; therapeutic use ; DNA, Mitochondrial ; Female ; Genetic Testing ; Hemorrhage ; etiology ; Humans ; Infant ; Lactic Acid ; Leigh Disease ; complications ; genetics ; Lung Diseases ; etiology ; Magnetic Resonance Imaging ; Male ; Mutation ; Pyruvic Acid

Objective To explore the value of MRI in the diagnosis of fetal aortic arch anomalies. Methods We retrospectively collected 10 fetuses with aortic arch anomalies indicated by prenatal ultrasound and underwent MR examination and were subsequently proven by autopsy or post-birth follow-up from 320 pregnant women. We focused on the observations of the location of the aortic arch and brachiocephalic artery anomalies, the locations of the liver and stomach in the abdominal cavity, and the large vessels in abdomen. The above-mentioned finding were compared with prenatal ultrasound and follow-up findings. Results Of 10 cases, right aortic arch with aberrant left subclavian artery was seen in 7 cases, right aortic arch with the mirror branch, left aortic arch with aberrant right subclavian artery, right aortic arch with aberrant left subclavian artery combined with cervical aortic arch and double aortic arch was seen in 1 case, respectively. All aortic arch anomalies detected by MRI were consistent with post-birth or autopsy findings. Ultrasound misdiagnosed aortic branch malformation in 5 places, which included right aortic arch but misdiagnosed aberrant left subclavian artery in 2 cases, right aortic arch never diagnosed mirror branch anomaly in 1 case, right aortic arch with left subclavian artery misdiagnosed cervical aortic arch in 1 case, left atrial isomerism but misdiagnosed left aortic arch with aberrant right subclavian artery in 1 case;One double aortic arch was misdiagnosed as right aortic arch with aberrant left subclavian artery in ultrasound. Conclusion Fetal cardiovascular MRI is an effective and supplementary examination to complement ultrasound in diagnosis of fetal aortic arch anomalies.

Objective To analyze CT and MR features of malignant peripheral nerve sheath tumor (MPNST)of children. Methods Sixteen patients with histologically proven MPNST were retrospectively reviewed.There were 8 male and 8 female, ages from 0.3 to 11.0 years, and median age was 2.5 years. Sixteen cases were performed with CT plain scan, and eight cases with CT enhancement scans, and three with MR examination. The imaging data were analyzed by two highly experienced doctors and obtained agreements after mutual consultation. Results Among 16 cases, 3 cases were located at neck, 5 cases at waist and back,3 cases at abdominal and pelvic, 2 cases at foot, 1 case at left clavicle, 1 case at right mediastinum, 1 case at right orbit. Fifteen cases appeared as solid masses and 1 case showed a diffuse growth. CT plain scan showed 8 cases were solid-appearing masses and 7 cases were cystic-solid mass. Enhanced CT showed enhancement of solid component was moderate to marked and gradually delayed enhanced while cystic component had no any enhancement. One was located on the left side of the neck and appeared as diffuse growth. Two cases of solid mass type appeared as hypo-intensity on T1WI and hyper-intensity on T2WI, and obviously high signal intensity of cystic component on T2WI, and with significantly heterogeneous enhanced.One case with diffuse growth appeared as hypo-intensity on T1WI and slightly hyper-intensity on T2WI, and with significantly enhanced. Sixteen cases appeared as invasive growth, 11 caseswith multiple organic metastases and recurrences, and 4 cases with neurofibromatosis type I and scoliosis.Conclusion CT and MR appearances of MPNST have certain characteristic features, and can demonstrateaggressive performance and multiple organic metastases, which is helpful for definite diagnosis and treatment plan.