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Objective:To investigate the clinical and genetic characteristics of peroxisome D-bifunctional protein deficiency (PDBPD) associated with HSD17B4 mutation. Methods:The clinical and genetic characteristics of 2 cases of PDBPD in August 2020, at Children′s Hospital Affiliated to Nanjing Medical University caused by HSD17B4 gene mutation were retrospectively analyzed. Results:Male proband and his sister suffered from neonatal epilepsy, psychomotor development disorders, ataxia, myasthenia, hearing impairment, and foot deformity.The very long chain fatty acids in serum were normal, and brain magnetic resonance imaging (MRI) showed bilateral cerebellar hemisphere atrophy.Electromyography suggested changes in the myoelectricity of multiple peripheral neurogenic lesions.Auditory evoked potential displayed severe bilateral sensorineural hearing loss.Exome sequencing identified compound heterozygous mutations (c.1171G > C, c.686-2A>T) in HSD17B4.The clinical diagnosis was PDBPD, aged 8 and 14 years, respectively. Conclusions:Two cases of HSD17B4 mutation-induced PDBPD were first reported in Chinese mainland, which was in line with its typical clinical manifestations.The newly discovered c. 1171G> C and c. 686-2A>T mutations enriched the HSD17B4 mutation spectrum.
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Objective To assess the brain development of newborns with cardiac septal defects by MRI.Methods The brain MR images of 150 newborns with cardiac septal defects and 50 normal newborns were analyzed retrospectively.We evaluated the brain development by measuring the four indices of lateral ventricle:anterior horn index (F/F'),body index (D/D'),caudate nucleus index (C/C')and Evans index.Independent samples t test was used to compare the differences between the two groups,and the possible positive diagnostic cut-off points were calculated by using the nonparametric ROC analysis.Results There were no significant differences between the congenital heart disease group and the control group in the two indices:F/F'[(0.301±0.035)vs (0.296±0.031);t=1.035,P>0.05]and Evans index [(0.239±0.052)vs (0.233±0.025);t=0.778,P>0.05].The values of D/D'[(0.261±0.039)vs (0.234±0.032);t=3.873,P<0.05)] and C/C'[(0.138±0.018)vs (0.124±0.015);t=4.479,P<0.05]were significantly higher in the congenital heart disease group than in the control group.In the congenial heart disease group,the area under the ROC curve obtained by D/D'and C/C'were 0.698 and 0.750,respectively.The maximum Yuedeng index corresponding to the D/D'value and the C/C'value were 0.28 and 0.12,respectively. Conclusion The body index(D/D')and the caudate nucleus index(C/C')are sensitive to evaluate the differences of the brain volume between the newborns with cardiac septal defects and the normal newborns.It is helpful to find the abnormal brain volume when the value of D/D'is greater than 0.28 and the value of C/C'is greater than 0.12.
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Objective To improve the diagnostic level of the holoprosencephaly (HPE) disease in children by imaging analysis. Methods From May 2007 to August 2015, 14 cases of HPE in children were collected (7 males and 7 females, aged 2 days to 8 years, mean 14 months). Two cases were showed as sucking difficulty and convulsions frequently after birth. Mental and motor development defects were showed in 12 cases, in which 4 cases were associated with cleft lip and palate deformities and 1 case with microcephaly. Of the 14 cases, CT scan was performed in 7 cases and MRI scan in 7 cases. Results All 14 cases were consistent with the diagnostic criteria of HPE according to the imaging findings of literatures reviewed. Four cases were showed as semilobar HPE, 8 cases were lober HPE, and 2 cases were middle interhemispheric fusion variant. There were thirteen cases were associated with corpus callosum agenesis, including 2 cases were with heterotopic gray matter. Putamen and caudate partia fusion were showed in 6 cases, and thalamus partia fusion in 3 cases. One case was associated with schizencephaly, 4 cases were palate malformation, one case was microcephaly, and one case was cerebellar hypoplasia. Conclusion CT and MRI scan could contribute to diagnosis and classification of holoprosencephaly, and determine whether HPE was associated with other neurological abnormalities. MRI scan should be the first choice for HPE diagnosis.
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Objective To evaluate the imaging features and causes of cerebral cortical laminar necrosis(CLN) in children,to improve understanding this sign.Methods The imaging and clinical data of 33 children diagnosed with CLN were analyzed retrospectively.The imaging features of CT and MRI were summarized and compared according to their etiologies.Results Children cerebral CLN involved multiple lobes of bilateral hemicerebrum, including the cortical region, subcortical region and basal ganglia region, and linear or gyral shape,patchy shape and punctate shape abnormal density or signal were demonstrated.The typical imaging features were high-signal intensity over the lateral cortical surfaces or along the gyri on T1WI and FLAIR.Diffusion weighted imaging(DWI) showed high signal with restricted diffusion on acute-stage, and Gd-DTPA enhancement demonstrated linear or gyrate enhanced appearance on early-stage.The extent of CLN of cerebral infarction was relatively limited.Acute anoxic encephalopathy showed an early imaging change and extensive involvement.While chronic anoxic encephalopathy and inflammatory encephalopathy showed a late imaging change and a longer existence.Conclusion Children cerebral CLN may have various causes and imaging features,and show characteristic chronological signal changes on imaging studies.The different causes result in the different patterns for CLN in distribution and time distribution.
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Objective To investigate MRI findings and its relationship with clinical grading and prognosis of infant muggy syn-drome (IMS).Methods Twenty five cases of IMS diagnosed newly and nine cases of IMS with follow-up were collected.MRI find-ings were retrospectively analyzed and compared with their clinical data.Results Seven early abnormal signs could be shown on cer-ebral MRI examination.There was no correlation between the clinical grading and three abnormal signs,which were subdural effu-sion,supratentorial cerebral edema and subarachnoid hemorrhage (P >0.05).In contrast,the other four abnormal signs (abnormal signal of subcortex and cortex,diffuse cerebral hemorrhage,basal ganglia and corpus callosum edema or infarction,large area cere-bral infarction)were closely related to the severity of clinical symptom (P <0.05).MRI findings had certain correlation with clinical classification.Conclusion MRI can objectively reflect the serious change of brain damage in IMS,and provide important information for clinical therapy and prognosis.
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Objective To assess the diagnostic value of MSCT in congenital bridging bronchus (BB).Methods Three-dimensional (3D) reconstructed CT images including MPR,MinIP,MIP,VR were respectively analyzed in 12 patients with congenital bridging bronchus on postprocessing workstation.Results Six of 12 BB patients were type Ⅰ bridging bronchus which originated from the left main bronchus at the level of fourth and fifth thoracic vertebral body,while the right bronchus was originated from the normal carina at the level of second and third thoracic vertebral body.The average angle of normal carina was about 59.2°,and the average angle of pseudocarina where BB originated from the left main bronchus was about 108.8°.The left main bronchus proximal to the origin of BB showed significant stenosis,with 1-2 mm width and 17 mm length in the involved segment.Six cases were type Ⅱ bridging bronchus,the right bronchus was absent in normal carina,BB originated at the level of fourth and fifth thoracic vertebral body,the average angle of pseudocarina was about 131°,the whole right lung was supplied by BB.The lower portion of trachea had stenosis in all 6 patients with 2-3 mm width and 30 mm length in the involved segment The lower portion of the trachea was found moving to the left in 4 patients and the left pulmonary artery sling was found in 2 patients.Conclusion MSCT can afford a definite diagnosis of BB by showing the morphology of trachea,bronchus,carina and relationship with surrounding organs with 3D reconstructions.
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Objective To investigate the qualitative diagnostic value of MRCP in patients with benign obstructive jaundice.Methods MRCP and conventional MR images were performed in 128 patients with benign obstructive jaundice on a superconductive MR scanner (Plilips medical systems Inc. Eclipse. 1.5T) . Final diagnosis was confirmed by surgical and histopathological findings in 123 patients and other 5 patients by follow-up.Results The accuracy of location diagnosis of MRCP was 100%; the qualitative diagnosis was 95.3%. The specificity, accuracy, sensitivity of the deadwood-sign for diagnosis of benign obstructive jaundice were 100%, 95.3%, 85.7% respectively. Conclusion The deadwood-sign was a specific indicator in MRCP of benign obstructive jaundice.