Application of MPVR and TL-VR with 64-row MDCT in neonates with congenital EA and distal TEF

AIM:To assess the application of multiple planar volume reconstruction(MPVR) and three-dimensional (3D) transparency lung volume rendering(TL-VR) with 64-row multidetector-row computed tomography (MDCT) in neonates with congenital esophageal atresia (EA) and distal tracheoesophageal fistula(TEF).METHODS:Twenty neonates(17 boys,3 girls) with EA and distal TEF at a mean age of 4.6 d(range 1-16 d) were enrolled in this study.A helical scan of 64-row MDCT was performed at the 64 mm×0.625 mm collimation.EA and TEF were reconstructed with MPVR and TL-VR,respectively.Initial diagnosis of EA was made by chest radiography showing the inserted catheter in the proximal blind-ended esophageal pouch.Manifestations of MDCT images were compared with the findings at surgery.RESULTS:MDCT showed the proximal and distal esophageal pouches in 20 cases.No significant difference was observed in gaps between the proximal and distal esophageal pouches detected by MPVR and TLVR.The lengths of gaps between the proximal and distal esophageal pouches detected by MPVR and TL-VR correlated well with the findings at surgery(R=0.87,P<0.001).The images of MPVR revealed the orifice of TEF in 13 cases,while TL-VR images showed the orifice of TEF in 4 cases.CONCLUSION:EA and distal TEF can be reconstructed using MPVR and TL-VR of 64-row MDCT,which is a noninvasive technique to demonstrate the distal esophageal pouches and inter-pouch distance in neonates with EA and distal TEF.

Persistent fifth aortic arch stenosis associated with type A interruption of the aortic arch: a report of six cases

Persistent fifth aortic arch (PFAA) is a rare congenital cardiovascular malformation that occurs when the pharyngeal fifth aortic arch does not degenerate during the embryonic period. The first case of PFAA was described in an autopsy specimen in 1969.[1] In 1973, the persistence of a left fifth aortic arch was first reported.[2] Since then, several case reports have described PFAA in different forms. PFAA stenosis associated with type A interruption of the aortic arch (type-A IAA) is most common in clinical practice and requires surgical intervention. From 2013 to 2018, six cases [Table 1 and Table 2] were diagnosed using echocardiography and computed tomography angiography (CTA). Five cases were successfully treated with surgery and followed-up. The purpose of this study was to summarize the clinical characteristics and diagnostic features of PFAA stenosis associated with type-A IAA to improve its diagnostic accuracy and allow for complete pre-operative preparation and proper treatment.

Comparison of Color Fundus Photography, Infrared Fundus Photography, and Optical Coherence Tomography in Detecting Retinal Hamartoma in Patients with Tuberous Sclerosis Complex

Background： A sensitive method is required to detect retinal hamartomas in patients with tuberous sclerosis complex （TSC）. The aim of the present study was to compare the color fundus photography, infrared imaging （IFG）, and optical coherence tomography （OCT） in the detection rate of retinal hamartoma in patients with TSC. Methods： This study included 11 patients （22 eyes） with TSC, who underwent color fundus photography, IFG, and spectral-domain OCT to detect retinal hamartomas. TSC1 and TSC2 mutations were tested in eight patients. Results： The mean age of the 11 patients was 8.0 ± 2.1 years. The mean spherical equivalent was -0.55 ±1.42 D by autorefraction with cycloplegia. In 11 patients （22 eyes）, OCT, infrared fundus photography, and color fundus photography revealed 26, 18, and 9 hamartomas, respectively. The predominant hamartoma was type I （55.6%）. All the hamartomas that detected by color fundus photography or IFG can be detected by OCT. Conclusion： Among the methods of color fundus photography, IFG, and OCT, the OCT has higher detection rate for retinal hamartoma in TSC patients; therefore, OCT might be promising for the clinical diagnosis of TSC.

Analysis of genotypes and phenotypes in Chinese children with tuberous sclerosis complex

Tuberous sclerosis complex(TSC) is a neurocutaneous syndrome with serious clinical presentations, an autosomal dominant genetic disorder involving multiple organs and systems. We retrospectively investigated the clinical manifestations and genotypes of 20 Chinese children with TSC to enable informed diagnostic and surveillance recommendations in China. A retrospective analysis of clinical manifestations in 20 children(7.00±5.30 years old) with TSC was conducted. A genetic testing of the genes TSC1 and TSC2 was performed in 14 children.The earliest manifestations of TSC were skin lesions(80% of patients) and seizures(75%). Fourteen of the children presented with retinal hamartomas, and 2 of these underwent eye enucleation at other hospitals through misdiagnosis. On magnetic resonance imaging, 18 children exhibited subependymal nodules, and 16 ones showed cortical nodules. 5 cases of non-renal hamartomas, 5 cases of multiple renal cysts, and 5 cases of cardiac rhabdomyomas were observed.The genotyping of TSC1 and TSC2 in 14 children revealed 11 with mutations in TSC2, 2 with mutations in TSC1, and no mutations of either gene in one patient. Eight of these observed mutations are reported here in for the first time. The illness presentations of the TSC2-mutated patients were more severe than that of patients carrying TSC1 mutations.There were differences in the mutations of TSC genes in Chinese children from those reported in other countries. The described clinical characteristics and genotyping will help pediatric neurologists to understand, diagnosis, and treat TSC.

Neurological Abnormality Could be the First and Only Symptom of Familial Hemophagocytic Lymphohistiocytosis: Report of Two Families

To the Editor:Hemophagocytic lymphohistiocytosis (HLH)is a life-threatening disease which impacts many parts of the body including the digestive,circulatory,and respiratory systems.The central nervous system (CNS)can also be affected,particularly in patients with familial HLH-2 (FHL-2),responsible for approximately 20% of all FHL.FHL-2 is a result of mutations to the perforin 1 (PRF1)gene,which can occur at numerous sites on the gene.

T2 mapping in the quantitative evaluation of articular cartilage changes in children with hemophilia: A pilot study

Importance: Joint disease affects more than 90% of severe hemophiliacs. Early diagnosis is critical in preventing hemophilic arthritis. Magnetic resonance imaging (MRI) enables visualization of early arthropathic changes and plays an important role in treatment. Objective: To evaluate the role of T2 mapping in detecting early cartilage lesions in the knee and ankle joints of children with hemophilic arthropathy. Methods: Target joints of 15 male patients with clinically confirmed moderate or severe hemophilia were evaluated with MRI. In addition to routine MRI protocols (T1WI, T2_FFE, T2_SPAIR, PDW_TSE), T2 mapping was used to evaluate the articular cartilage of target joints. results: The mean T2 value of the distal femoral cartilage was 46.72 ± 10.94 ms, which is higher than the reported age-matched normal value (40.27 ± 3.50 ms). The mean T2 value of the proximal tibial cartilage was 45.60 ± 8.82 ms, which is higher than the reported normal value (31.15 ± 1.86 ms). Four examined joints (two ankles, two knees) showed normal morphology with no abnormal signal on routine MR sequences. However, T2 mapping showed locally increased T2 values in the cartilage, along with uneven color scales. Interpretation: The quantitative assessment method of T2 mapping might be helpful to early diagnosis for articular cartilage lesions. It might be a potential tool for early assessment of cartilage changes and quantification of lesion's severity for hemophilia joint.

Steel wire causing pseudoaneurysm of descending aorta

An l l-years-old boy presented with 7 days history of abdominal pain, precordial pain and intermittenthematemesis. The physical examination revealed appearance of anemia, precordial tenderness without other positive findings. Routine blood test was notable for Hb 60 g/L. Contrast CT scan of the chest revealed a soft tissue dense mass close to the descending aorta （Figure 1 A and B）. The mass and the adjacent artery were luminally connected and intensified substantially at the same time and to the same degree on the radiographic studies. The wall of the mass was slightly thickened and the inner surface of the wall was not smooth. The esophagus was deviated and became narrow due to compression （Figure 1 A）. Axial maximum intensity projection （MIP） showed a linear metallic foreign body （Figure I C） and local airway moved forward and became flat. Volume rendering （VR） confirmed a right- side protruding mass adjacent to the beginning of the descending aorta （Figure 1 D）. The gastroscopy showed ulceration of the esophageal mucosa （Figure 1 E）.

Berry syndrome： a rare cardiac malformation with extra-cardiac findings

Dear Editor,Berry syndrome is a rare combination of congenital cardiac malformations characterized by four abnormal features;namely,an aortopulmonary window(APW),aortic origin of the right pulmonary artery,hypoplasia or interruption of the aortic arch,with an intact ventricular septum.The disease was first reported by Berry in 1982,who estimated the incidence within the population with congenital cardiac malformations to be 0.046%(Berry et al.,1982).Until recently,

Reversible Posterior Leukoencephalopathy Syndrome Sometimes Could be Irreversible： A Case Following Tumor Lysis Syndrome in Childhood Burkitt＇s Lymphoma

Reversible posterior leukoencepbalopathy syndrome （RPLS） was first described by Hinchey eta/. in 1996 as a clinical radiologic syndrome consisting of reversible cortical neuroIogic dysIhnction and brain imaging findings involving the posterior circulation, especially the occipital lobes.

An Infant with Abernethy Malformation Associated with Heterotaxy and Pulmonary Hypertension

Abernethy malformation （AM） is a rare congenital anomaly in which the splanchnic blood bypasses the liver and drains directly into the systemic veins.It was first described by Abemethy in 1793 and has two types.Type Ⅰ is characterized by a complete portosystemic shunt and an absence of a portal vein （consists of superior mesenteric and splenic veins）,while Type Ⅱ exhibits partial portosystemic shunt and a hypoplastic portal vein.Type Ⅰ is further subclassified into subtype a and b based on the absence or presence of a patent connection between the superior mesenteric vein and the splenic vein.