Two siblings with Fanconi anemia (FANCQ, ERCC4/XPF) presenting with tumor-mimicking lesions in the brain and acute neurological deterioration.

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.

Brain metastases with unusual MRI features in an infant with relapsed clear cell sarcoma of the kidney: A case report.

Clear cell sarcoma of the kidney (CCSK) is a rare primary renal tumor in children. It is known for its propensity to metastasize to bones and lungs at initial diagnosis. Distant metastatic relapses occur in about 15-16% of the patients, with the brain being the most frequent site of relapse. Imaging features of brain metastases from CCSK have only been reported in a few cases and most reports lack a detailed description of the imaging findings. We present brain magnetic resonance imaging (MRI) findings in an infant with relapsed CCSK who developed multiple parenchymal metastases with concentric signal alterations and no tumor-associated edema.

Fourth lumbar artery continuation of the common iliac artery with a retro-psoas course demonstrated by CT.

PURPOSE: To describe a case of an anomalous common iliac artery (CIA) arising from the aorta as the fourth lumbar artery (4th LA) and following a retro-psoas course as the continuation of the 4th LA. METHODS: Contrast-enhanced abdominopelvic computed tomography (CT) findings of an incidentally detected anomalous CIA are described in an 8-year-old girl. CASE REPORT: CT showed that the right CIA originated from the distal aorta at the L3-L4 level with an acute angle and continued posteriorly in the course of the 4th LA. The right CIA descended into the iliac fossa as a single artery, lying posterior to the psoas muscle. It gave off the internal iliac artery (IIA) low in the iliac fossa and continued as the external iliac artery (EIA). The median sacral artery (MSA) originated from the left proximal CIA and joined the posterior division of the right IIA. DISCUSSION: Fourth LA continuation of the CIA is a rare vascular anomaly with a few published reports to date. The anomaly occurs far more on the right side than the left and is mostly asymptomatic. An abnormal connection between the umbilical artery and the distal aorta probably results in this anomaly, as well as in another group of CIA anomalies that are characterized by the absence of one or two CIAs with trifurcation or quadrifurcation of the distal aorta. CONCLUSION: Although the vascular anomaly is mostly asymptomatic, knowledge of it is important in the interventions of the area to prevent complications.

Tandem high-dose chemotherapy followed by autologous stem cell transplantation: An infant with trilateral retinoblastoma.

BACKGROUND: Retinoblastoma (RB) is the most common intraocular malignancy in childhood. Advanced RB, associated with exceedingly poor prognosis, requires more intensive multiagent chemotherapy than conventional regimens. Rescue of the bone marrow after intensive chemotherapy is achieved with stem cell transplantation. The sequential courses (tandem transplantation) of high-dose chemotherapy followed by autologous stem cell transplantation allow for even greater dose intensity in consolidation with the potential to use different active chemotherapeutics at each transplant and have proven feasible and successful in treating children with recurrent/refractory solid tumors. CASE DESCRIPTION: We report an infant with trilateral high-risk RB who received tandem high-dose chemotherapy (HDC) followed by autologous stem cell transplantation after the conventional chemotherapy. A 5-month-old female patient presented with strabismus, and the ophthalmoscopic examination showed intraocular tumoral lesions in both eyes. Magnetic resonance imaging (MRI) concluded the trilateral retinoblastoma diagnosis due to a tumoral mass in the optic chiasm. The follow-up ophthalmologic examinations and the MRI detected stable disease after six cycles of multiagent chemotherapy. CONCLUSIONS: Rescue with autologous stem cell transplantation after HDC allows for an increase in chemotherapy intensity. Tandem transplantation provides the chance to perform different chemotherapeutics at each transplant and enables an increase in the chemotherapy intensity, thus providing a positive effect on disease-free survival.

Correlation of Indeterminate Lesions of COVID-19 Pneumonia Detected on Computed Tomography with RT-PCR Results.

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.

Is there an Unnoticed Etiology of Right Atrial Aneurysm?

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.

Association Between Incomplete Partition Type III and Abnormal Hypothalamic Morphology: Further Imaging Evidence.

PURPOSE: Incomplete partition III (IP-III), characterized by congenital mixed or sensorineural hearing loss, is a rare genetic disease transmitted through X-linked mode of inheritance. Inner ear findings of IP-III have been well described and allow an immediate diagnosis to be made. Recently, an association between IP-III and distinct hypothalamic malformations has been reported in some of the patients with IP-III. The purpose of this study was to investigate the morphologic abnormalities of the hypothalamus in IP-III. MATERIALS AND METHODS: Magnetic resonance imaging studies of 8 subjects, including 1 set of brothers, who were diagnosed with IP-III based on their clinical and inner ear imaging findings, were analyzed. RESULTS: Of the 8 subjects, 7 demonstrated some degree of morphologic abnormality of the hypothalamus. Of these, 2 showed asymmetrical thickening, 1 showed symmetrical thickening, and 4 showed mass-like enlargement of the hypothalamus. Six of 7 subjects with hypothalamic abnormalities showed asymmetry in caudal extension of the abnormalities, which was more discernible on coronal oblique T2-weighted images. Clinically, none of the subjects had endocrinologic or neurologic symptoms. CONCLUSIONS: This retrospective analysis presents further magnetic resonance imaging evidence on the association between the rare IP-III malformations and the presence of hypothalamic morphologic abnormalities.

Posterior fossa horns; a new calvarial finding of mucopolysaccharidoses with well-known cranial MRI features

Background/aim: Mucopolysaccharidoses (MPS) are a group of hereditary metabolic diseases. The aim of this study was to share the previously unreported calvarial finding of internal hypertrophy of the occipitomastoid sutures (IHOMS) together with some other well-known cranial MRI findings in this patient series. Materials and methods: A retrospective evaluation was conducted of 80 cranial MRIs of patients who had been diagnosed and followed up with MPS from 2008 to 2019 in our center. Of these patients, 11 had Hurler, 14 had Hunter, 24 had Sanfilippo, 15 had Morquio, 14 had Maroteaux­Lamy, and 2 had Sly disease. The cranial MRIs were assessed in two main groups as parenchymal intradural cranial MRI findings and extradural calvarial findings. Results: The most common parenchymal intradural cranial MRI findings were white matter signal alterations (n = 51, 63%) and perivascular space enlargements (n = 39, 48%). The most common extradural calvarial findings were J-shaped sella (n = 45, 56%) and tympanic effusion (n = 44, 55%). Although IHOMS was defined in a relatively small number of the patients (n = 12, 15%), the prevalence rate was high in MPS type I (n = 6, 54%). Conclusion: The abnormal cranial MRI findings of the MPS patients, including the newly identified IHOMS, may provide diagnostic clues to differentiate the type of the disease in radiological imaging.

Correlation of 3-T MRI and CT findings with patient symptoms and treatment outcome in radiofrequency ablation of osteoid osteoma.

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.

Hepatic Complications of Umbilical Venous Catheters in the Neonatal Period: The Ultrasound Spectrum.

OBJECTIVES: Umbilical venous catheterization is commonly used in the neonatal period; however, it has some complications. In this study, we evaluated neonates who underwent umbilical venous catheterization and developed hepatic complications. Furthermore, we aimed to define all of the possible lesions and to clarify the imaging findings of umbilical venous catheter-induced hepatic injury. METHODS: Two hundred forty-four neonates who underwent umbilical venous catheterization between March 2013 and September 2015 in a single tertiary care referral center were included in this study. To determine whether they had any hepatic complications, all patients underwent abdominal grayscale and Doppler ultrasound examinations, and their clinical data were recorded. RESULTS: The frequency of liver-related complications from umbilical venous catheterization was 33.6% (82 of 244). Air in the portal venous system was the most frequent complication (20.1% [49 of 244]). Left portal venous thrombosis was noted in 6.1% (15 of 244). Parenchymal lesions in the liver related to umbilical venous catheterization were seen in 7.4% of patients (18 of 244) as follows: single nodular echogenic lesions (4.1% [10 of 244]), branching small nodular echogenic lesions (2.1% [5 of 244]), and large irregular heterogeneous lesions with laceration and perihepatic fluid (1.2% [3 of 244]). There was no statistical significance for any type of complication according to the gestational age (P > .05). CONCLUSIONS: Hepatic complications due to umbilical venous catheters are not uncommon in the neonatal period. Ultrasound is the best imaging modality for confirming the diagnosis and for follow-up.

Duplex Doppler Sonographic Assessment of the Superior Mesenteric Artery in Patients With Mesenteric Panniculitis.

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/m2 in the patient group versus 23.16 ± 3.47 kg/m2 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.

Left upper lobe atelectasis due to plastic bronchitis.

Sismanlar T, Aslan AT, Öztunali Ç, Boyunaga 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.

Unknown vascular compression of the airway in patients with congenitalheart disease and persistent lower respiratory symptoms

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.

Association between deep neck space abscesses and internal carotid artery narrowing in pediatric patients

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.

Pterygopalatine Fossa: Not a Mystery!

The pterygopalatine fossa is an important anatomic crossroads that is connected with numerous intra- and extracranial spaces via foramina and fissures. Although this fossa is small, its central location in the skull base and its communications provide clinical, radiological, and anatomical significance. In this pictorial review, we aimed to describe the radiologic anatomy of the pterygopalatine fossa, as well as to give some pathologic examples to better understand this major conduit.

Effect of teriparatide treatment on endothelial function, glucose metabolism and inflammation markers in patients with postmenopausal osteoporosis.

OBJECTIVE: Teriparatide, an anabolic agent used in the treatment of postmenopausal osteoporosis, can induce effects similar to primary hyperparathyroidism. Our objective was to evaluate the effects of teriparatide on endothelial functions, glucose metabolism and inflammation markers in patients diagnosed with postmenopausal osteoporosis. DESIGN, PATIENTS AND MEASUREMENTS: This was a single-centre, single-arm, 6-month prospective study. Twenty-three postmenopausal women over 65 years old with a lumbar spine or femoral neck T-score of -4·0 or lower and having at least two compression fractures in thoracic or lumbar spine were studied. Low-dose intermittent teriparatide (20 µg/day) was supplemented with calcium carbonate (1000 mg elemental calcium) and 880 IU cholecalciferol for 6 months. The biochemical parameters for glucose metabolism, inflammation and atherosclerosis were determined. For the assessment of vascular endothelial function, carotid intima-media thickness (CIMT), brachial artery intima-media thickness (BIMT), per cent change in flow-mediated dilation (FMD%) and nitroglycerine-induced dilations (NID%) were measured on ultrasonography. RESULTS: The fasting plasma glucose, homoeostatic model assessment of insulin resistance, fibrinogen, homocysteine and high-density lipoprotein cholesterol increased significantly with teriparatide treatment (P < 0·05 for all). Baseline CIMT and BIMT did not change significantly with 6 months of teriparatide treatment (P > 0·05); however, FMD% and NID% showed significant decrease after treatment (P < 0·01 for both). CONCLUSIONS: Intermittent teriparatide treatment may adversely affect some parameters of glucose metabolism, inflammation and endothelial function. On the basis of our findings, further large-scale and controlled studies are needed to clarify the exact effect of teriparatide treatment on glucose metabolism, inflammation and endothelial function.

MRI and CT findings of isolated intracranial Rosai-Dorfman disease in a child.

Isolated intracranial Rosai-Dorfman disease (RDD) is extremely rare in pediatric patients. We present the case of a 22-month-old boy whom had isolated intracranial RDD involvement. To our knowledge, a parieto-occipital regional involvement without a dural tail sign has not been previously documented. Also, the mass contained hyperintense central T1 foci, and hypointense T2 and gradient echo foci; which are helpful in the differential diagnosis from meningioma. The magnetic resonance and computed tomography imaging findings are discussed and the follow-up course is presented in this paper.