Search

The complementation Q group (FANCQ) subtype of Fanconi anemia (FA) caused by the ERCC4/XPF mutation is very rare. Two siblings, aged 13 and 10 with Fanconi phenotypic features, presented with right hemiparesis and focal-onset seizures. In both cases, cranial magnetic resonance imaging (MRI) showed mass-like lesions accompanied by peripheral edema and calcification. In one case, oral steroid treatment and surgical excision were performed, while in the other case, the cranial lesion regressed just with steroid treatment and without surgery. Both siblings remained wheelchair-bound due to neurological dysfunction. One case died due to hepatocellular carcinoma. ERCC4/XPF gene mutation was detected in both siblings., (© 2024 The Authors. Pediatric Blood & Cancer published by Wiley Periodicals LLC.)

Competing Interests: Declaration of Conflicting InterestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

A 12-year-old male was referred for surgery with the diagnosis of right atrial aneurysm. Resection of the right atrial aneurysm was performed under total cardiopulmonary bypass. Besides a very thin muscular layer, histopathological evaluation of the aneurysm specimen revealed extensive eosinophilic infiltration at the epicardial side which, from place to place showed penetrations into the muscular layer. The screening tests performed for determination of the etiology of eosinophilia were indeterminate supporting the diagnosis of idiopathic right atrial aneurysm. In conclusion, although the reason for the eosinophilia could not be detected, it may have a part in the development of right atrial aneurysm that merits further investigation.

Background: The typical findings of COVID-19 pneumonia include multilobar groundglass opacities and consolidation areas observed predominantly in the basal and peripheral parts of both lungs in computed tomography., Objective: The current study aimed to correlate indeterminate lesions of COVID-19 pneumonia detected on computed tomography with the results of the reverse transcription-polymerase chain reaction (RT-PCR) test., Methods: Patients with high-resolution computed tomography images that were reported to contain indeterminate lesions in terms of COVID-19 pneumonia were included retrospectively in the study. The lesions were categorized and the patterns were classified. The RT-PCR-positive and the RTPCR- negative patients were compared. P<0.05 was accepted as the statistical significance limit., Results: The RT-PCR-positive patients exhibited a higher rate of peripheral lesions. Limited consolidation areas were not detected in the RT-PCR-positive patients. In the RT-PCR-negative patients, the rates of acinar nodules and the tree-in-bud pattern were significantly higher. The RTPCR- negative patients had higher nodular contour features and lesion coalescence. In the subgroup consisting of lesions with ground-glass opacities and/or ground-glass opacity around the nodule, the rate of nodular contour positivity was significantly higher in the RT-PCR- positive patients., Conclusion: COVID-19 pneumonia should be suspected when peripheral indeterminate lesions are detected. When indeterminate lesions, such as tree-in-bud pattern, acinar nodules and limited consolidation area are detected, alternative diagnoses should be considered first, even if there are ground glass opacities accompanying these lesions., (Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.net.)

Objective: The aim of this prospective study was to evaluate pre- and post-treatment MRI and CT findings of osteoid osteoma (OO) patients treated with radiofrequency thermo-ablation (RFTA) and to compare these findings with visual analog scale (VAS) scores., Methods: Sixteen patients (4 females and 12 males; mean age of 18.87 ± 8.75 years (range: 8-37)) with OO were examined with CT and MRI, at baseline and at an average of 3 months following the procedure. On pre- and post-procedural CT and MRIs, OO-related findings were recorded. Treatment success was evaluated with VAS scores., Results: Baseline VAS scores were 8 or 9 and follow-up scores were 0 or 1, indicating no early recurrences. Nidus diameters decreased significantly after the procedure (p = 0.027, p = 0.002, and p = 0.002; and p = 0.001, p = 0.001, p = 0.001 for AP, ML and CC nidus diameters for CT and MRI, respectively). The mean nidus volume were significantly decreased after the procedure (p = 0.001, for CT and MRI). On post-procedural images, cortical thickening, the signal intensity and contrast enhancement of the nidus and the extent of periostitis were significantly decreased (p = 0.019, p = 0.001, p = 0.001 and p = 0.034, respectively). There was no significant change in nidus calcification, perinidal cortical and intramedullary sclerosis, periosteal reaction, bone deformity, bone marrow and soft tissue edema, joint effusion and synovitis after the procedure (p = 0.253, p = 0.062, p = 0.245, p = 1, p = 1, p = 0.429, p = 0.371, p = 0.625, p = 1)., Conclusion: Although the changes in imaging findings may be helpful in early follow-up of OO patients treated with RFTA, these changes alone cannot be used with accuracy in predicting treatment response., Level of Evidence: Level IV, Therapeutic Study., (Copyright © 2019 Turkish Association of Orthopaedics and Traumatology. Production and hosting by Elsevier B.V. All rights reserved.)

Objectives: We aimed to determine how the hemodynamic parameters of the superior mesenteric artery are affected in mesenteric panniculitis., Methods: Twenty-one patients with a diagnosis of mesenteric panniculitis on computed tomography were evaluated with duplex Doppler sonography. The control group consisted 20 asymptomatic volunteers. The peak systolic velocity, end-diastolic velocity (EDV), resistive index (RI), pulsatility index (PI), blood flow volume, and body mass index were measured in the group of patients with mesenteric panniculitis, and the findings were compared with those of the control group., Results: The mean blood flow volume and EDV were significantly higher in the patient group: The mean superior mesenteric artery blood flow volume ± SD was 917.86 ± 228.97 mL/min in the patient group versus 389.73 ± 92.72 mL/min in the control group (P < .001). The mean EDV was 31.56 ± 8.44 m/s in the patient group versus 19.27 ± 4.19 m/s in the control group (P < .001). The mean RI and PI were significantly lower in the patient group: The mean RI was 0.81 ± 0.04 in the patient group versus 0.85 ± 0.03 in the control group (P = .001). The mean PI was 2.69 ± 0.68 in the patient group versus 3.81 ± 1.13 in the control group (P = .001). the mean superior mesenteric artery diameter was 7.30 ± 0.67 mm in the patient group versus and 6.46 ± 0.66 mm in the control group (P < .001). The mean BMI was 27.95 ± 3.80 kg/m 2 in the patient group versus 23.16 ± 3.47 kg/m 2 in the control group (P < .001)., Conclusions: In patients with mesenteric panniculitis, the Doppler spectrum of the superior mesenteric artery shows detectable changes, which are characterized by decreased vascular resistance and increased blood flow., (© 2017 by the American Institute of Ultrasound in Medicine.)

Background/aim: Our aim was to interpret the effects of deep neck space abscesses on the adjacent carotid artery according to abscess location, as well as to determine narrowing by calculating the mean stenosis ratios.Materials and methods: Neck computed tomography scans and clinical data of 45 children with neck abscesses were evaluated retrospectively for abscess location and internal carotid artery narrowing. The lumen areas of the carotid arteries were measured from standard levels, and stenosis ratios were calculated with two different techniques. The mean stenosis ratios of each group according to abscess location were then compared with the control group.Results: Among the 45 abscesses included in the study, 51.1% (n = 23/45) were located in the peritonsillar region, 37.8% (n = 17/45) were located in the parapharyngeal-lateral retropharyngeal space, and 11.1% (n = 5/45) were in the midline retropharyngeal space. We found a statistically significant difference between the mean stenosis ratios of the ipsilateral side of the parapharyngeal-lateral retropharyngeal abscesses and the control group (P < 0.01).Conclusion: The children with parapharyngeal-lateral retropharyngeal abscesses all had narrowing in the adjacent carotid lumen to some degree. Although most of the patients had no clinical symptoms, radiologists have to be aware of this arterial complication to prevent further progress and fatal complications.

Background/aim: Airway compression (AC) by vascular structures is an important complication of congenital heart disease (CHD) that often goes unrecognized. It is not easy to identify whether CHD patients require additional invasive examinations or not. Therefore, the present study aims to develop an AC diagnostic algorithm for CHD patients. Materials and methods: CHD patients with persistent respiratory symptoms that were treated between January 2007 and December 2015 were retrospectively reviewed. The following data were recorded for all CHD patients with AC: age, cardiac anomalies, the compressed structure, the airway diameter ratio (ADR), the compressing structure(s), treatment, and follow-up.Results: During the 8-year study period, 62 of 253 CHD patients had persistent respiratory symptoms, of which 11 cases were diagnosed as AC via bronchoscopy and/or thoracic computed tomography angiography. The most frequently affected structures were the left main bronchus and trachea, and the most common compressing structure was the right pulmonary artery. The ADR was near total compression in 3 patients and >0.50 in 3 patients. During follow-up, 5 of the 11 patients with AC underwent surgery, 2 died, and 4 were followed clinically. Patients with ADR of >0.50 did not require surgery and were followed clinically. Conclusion: CHD patients with persistent respiratory symptoms associated with lower respiratory airway obstruction should be evaluated via invasive examination. An AC diagnostic algorithm for pediatric CHD patients was developed.

Şişmanlar T, Aslan AT, Öztunalı Ç, Boyunağa Ö. Left upper lobe atelectasis due to plastic bronchitis. Turk J Pediatr 2017; 59: 207-209. Plastic bronchitis is a rare condition in children, characterized by expectoration of branching bronchial casts. It can cause atelectasis in the lung. Herein we reported a 4.5-year-old boy with left upper lobe atelectasis due to plastic bronchitis. Although his chest X-ray is specific for left upper left atelectasis, thoracic computerized tomography had been performed and was compatible with obliterated left upper lobe bronchus. Typical radiological appearance of the left upper lobe atelectasis is not well known by clinicians which results unnecessary further examinations such as computerized tomography which exposes high dose radiation. We want to emphasize the long-term side effects of radiation and avoid unnecessary examinations in children.

Burkitt lymphoma is an aggressive and rapidly growing tumor that is curable and highly sensitive to chemotherapy. It can affect almost every tissue in the body, producing various clinical presentations and imaging appearances, according to the predilection of the different subtypes for certain sites. Awareness of its diagnostically specific imaging appearances plays an important role in rapid detection and treatment. In this pictorial review, we aimed to identify the most common imaging features of Burkitt lymphoma in pediatric patients.