Neuroblastoma in a Child With Wolf-Hirschhorn Syndrome.

Neuroblastoma is the most common extracranial solid tumor of childhood originating from sympathetic nervous system cells. Neuroblastoma has also been diagnosed in conjunction with other congenital conditions such as Hirschsprung's disease, congenital hypoventilation disorder, and neurofibromatosis type 1. Wolf-Hirschhorn syndrome is a congenital disorder caused by microdeletion of short arm of chromosome 4 encoding MSX1 gene with characteristic facial features. We describe a child with dysmorphic features, developmental delay, mental retardation who developed neuroblastoma at 2 years of age and cytogenetic analysis of blood lymphocytes revealed an interstitial deletion of 4p(15,2). To best our knowledge, this report is the first report of neuroblastoma in a child with Wolf-Hirschhorn syndrome; and the reported association may be an important clue for oncological follow-up of patients with Wolf-Hirschhorn syndrome.

A Case of Familial Hemophagocytic Lymphohistiocytosis Type 4 With Involvement of the Central Nervous System Complicated With Infarct.

BACKGROUND: Familial hemophagocytic lymphohistiocytosis (HLH) is a fatal disease affecting infants and very young children. Central nervous system involvement of HLH can cause catastrophic results. METHOD: We present a case with cranial involvement of familial HLH type 4 who showed diffuse infiltration of white matter complicated with intracranial thrombosis. A 5-year-old girl from a consanguineous couple presented with fever and pancytopenia, and was referred to our hematology unit. Examination revealed fever, lymphadenopathy, and hepatosplenomegaly. Ultrasound examination revealed hepatosplenomegaly and free intra-abdominal fluid. HLH was revealed on bone marrow aspiration biopsy. Defective natural killer and T lymphocyte cytotoxicity using degranulation tests was determined. In the genetic analysis, syntaxin gene mutation was found. On T2-weighted and T2-fluid-attenuated inversion recovery magnetic resonance imaging (MRI), diffuse hyperintense signal changes of cerebral white matter, indicating white matter demyelination, were observed. A second brain MRI showed an acute infarct involving the left temporooccipital region. Immunosuppressive therapy according to the HLH 2004 protocol was started. The infarct resolved but white matter lesions were stable on the brain MRI that was performed 1 month later. Brain MRI taken 4 months after the first examination showed stable cerebral white matter lesions, but hyperintense signal changes appeared in the cerebellar white matter and were regarded as progression. The patient died because of infection despite immunosuppressive therapy. CONCLUSIONS: Physicians managing patients with HLH must be vigilant about the possibility of central nervous system involvement including stroke.

Imaging Evaluation Of Pediatric Orbital Pathologies.

The orbital pathologies commonly detected during the childhood period substantially differ from the lesions that arise in adult orbit. The advance in imaging modalities including computed tomography (CT) and particularly magnetic resonance imaging (MRI) might enable the radiologists and clinicians who would be involved in either medical or surgical care of orbital pathologies, to confidently establish a definite diagnosis prior to histopathologic examination. The purpose of this pictorial assay is to present relatively common paediatric orbital pathologies with regard to CT and MRI findings.

Efficacy of diffusion weighted imaging in sacroiliac joint MRI in children.

OBJECTIVE: Because of the immature bone marrow signal in children, assessment of the sacroiliac joint is more difficult than in adults. Aim of this study is to evaluate the efficacy of diffusion-weighted imaging (DWI) in sacroiliac joint magnetic resonance imaging (MRI). METHODS: Sacroiliac joint MRI, including DWI sequences, were evaluated by two pediatric radiologists in 54 patients with sacroiliitis and 85 completely normal controls. In MRI evaluation, subchondral bone marrow edema and contrast enhancement in the sacroiliac joints were considered as active sacroiliitis. Apparent diffusion coefficient (ADC) measurements were made in six areas from each sacroiliac joint. A total of 1668 fields were evaluated retrospectively without their diagnosis being known. RESULTS: When the postcontrast T1W series were referenced, the sensitivity, specificity, positive predictive value, and negative predictive value of short time inversion recovery (STIR) images in the diagnosis of sacroiliitis were 88%, 92%, 83% and 94% respectively, compared to contrast-enhanced images. False positive results in STIR images were observed secondary to the flaring signal in the immature bone marrow. ADC measurements obtained from diffusion-weighted images were recorded in all patients and healthy groups. The ADC values were 1.35x10-3 mm2/s (SD: 0.21) in the areas of sacroiliitis, 0.44x10-3 mm2/s (SD: 0.71) in the normal bone marrow and 0.72x10-3 mm2/s (SD: 0.76) in the immature bone marrow areas. CONCLUSION: Although STIR studies are an effective sequence in the diagnosis of sacroiliitis, they cause false positive results in immature bone marrow in children in inexperienced hands. DWI is an objective method that prevents errors in the assessment of sacroiliitis by means of ADC measurements in the immature skeleton. In addition, it is a short and effective MRI series that makes important contributions to the diagnosis without the need for contrast-enhanced examinations in children.

Decreased echogenicity of the embryo is correlated with absence of cardiac activity.

PURPOSE: The purpose of this study was to investigate whether the sonographic echogenicity of embryos is associated with cardiac activity in utero. METHODS: The present study reviewed a total of 164 embryos having a gestational age between 6 and 8 weeks. These embryos were examined by transvaginal ultrasonography and a comparison of their echogenicity was made with respect to those of the placenta and the myometrium. Grade II embryos were less echogenic than the placenta or had similar echogenicity with the myometrium, whereas grade I embryos shared the same echogenicity as the placenta. In contrast, grade III embryos were less echogenic than the myometrium. RESULTS: Most of the embryos with cardiac activity were detected to have grade II echogenicity (78/130, 60.0%), whereas the remaining embryos had grade I echogenicity (52/130, 40.0%). In contrast, most of the embryos without cardiac activity had grade III echogenicity (20/34, 58.8%), whereas the remaining embryos had either grade II (8/34, 23.5%) or grade I (6/34, 17.7%) echogenicity. CONCLUSIONS: Decreased echogenicity of embryos on grayscale ultrasound in the early first trimester is correlated with an absence of cardiac activity.

Evaluation of radiological findings in pediatric patients with COVID-19 in Turkey.

OBJECTIVE: The objective of the study was to describe the findings of pediatric patients diagnosed with COVID-19 in computed tomography (CT) and chest X-ray (CXR) images. Therefore, the aim of this study is to show protecting the children from radiation as much as possible while guiding the diagnosis. METHODS: Between March and June 2020, 148 pediatric patients examined who underwent CT due to suspicion of COVID-19. Fifty patients of 148 with normal thorax CT and negative reverse transcription polymerase chain reaction (RT-PCR) were excluded from the study. Of the remaining 98 patients were evaluated retrospectively by two pediatric radiologists with 15 years of experience. RESULTS: The demographic, clinical, and laboratory data were evaluated for 52 RT-PCR-positive patients. CT finding of 23 RT-PCR positive and 12 negative patients was classified. According to our study, unilateral (61-67%), multifocal (50-52%), and peripheral (83-91%) involvement were higher in all groups. Lower lobe involvement was frequently detected (58-65%). The most frequently detected parenchymal lesion was ground-glass opacity followed by consolidated areas accompanying ground-grass opacities. Halo sign and vascular enlargement signs were the common signs of lung lesions (35%). In addition, some rare findings not previously described in this disease in children were mentioned in this study. The clinical course of all our patients was mild and control radiological imaging checked by CXR. CONCLUSION: Most pediatric patients have a mild course. Hence, a balance between the risk of radiation and necessity for chest CT is very important. Low-dose CT scan is more suitable for pediatric patients but still it should be used cautiously.

Cytotoxic lesions of the corpus callosum in children: Etiology, clinical and radiological features, and prognosis.

OBJECTIVES: Cytotoxic lesions of the corpus callosum (CLOCCs) are secondary lesions associated with entities like infection manifested by restricted diffusion on diffusion-weighted cranial magnetic resonance imaging. Our objectives are to evaluate the clinic-radiological spectrum of pediatric patients with cytotoxic lesions of the corpus callosum (CC). METHODS: Children (0-18 years) admitted between February 2017 and May 2020 with splenial lesions showing diffusion restriction on MRI, either isolated or within involvement of other parts of the brain, were included retrospectively. The primary lesions of the CC (e.g. acute disseminated encephalomyelitis, acute ischemic infarction, and glioblastoma multiforme) were excluded. CLOCCs were divided into infection-associated, metabolic disorder-associated, and trauma-associated lesions, as well as CLOCCs involving other entities. Data were collected from the medical databases. RESULTS: Forty-one patients were determined to have CLOCCs. Twenty-five (61%) were infection-associated, nine (22%) were trauma-associated, and three (7%) were metabolic disorder-associated cases, including 2 inherited disorders of metabolism. There were four (10%) patients with other entities, three with epilepsy, and one had an apparent life-threatening event. Six patients had a known etiology among the infection-associated group; one had multisystem inflammatory syndrome caused by COVID-19 and one had been infected by COVID-19 without any complications. All the infection-associated patients with isolated splenial lesions recovered totally, although six patients required intensive care hospitalization. Four trauma-associated patients had sequela lesions. CONCLUSIONS: CLOCCs are associated with a spectrum of diseases, including the new coronavirus, COVID-19 infection. Infection-associated CLOCCs has the best prognosis, although severe cases may occur. Sequelae are possible based on the etiology.

Magnetic Susceptibility Changes in the Basal Ganglia and Brain Stem of Patients with Wilson's Disease: Evaluation with Quantitative Susceptibility Mapping.

OBJECTIVES: Wilson's disease (WD) is characterized with the accumulation of copper in the liver and brain. The objective of this study is to quantitatively measure the susceptibility changes of basal ganglia and brain stem of pediatric patients with neurological WD using quantitative susceptibility mapping (QSM) in comparison to healthy controls. METHODS: Eleven patients with neurological WD (mean age 15 ± 3.3 years, range 10-22 years) and 14 agematched controls were prospectively recruited. Both groups were scanned on a 1.5 Tesla clinical scanner. In addition to T1- and T2-weighted MR images, a 3D multi-echo spoiled gradient echo (GRE) sequence was acquired and QSM images were derived offline. The quantitative measurement of susceptibility of corpus striatum, thalamus of each hemisphere, midbrain, and pons were assessed with the region of interest analysis on the QSM images. The susceptibility values for the patient and control groups were compared using twosample t-test. RESULTS: One patient with WD had T1 shortening in the bilateral globus pallidus. Another one had hyperintensity in the bilateral putamen, caudate nuclei, and substantia nigra on T2-weighted images. The rest of the patients with WD and all subjects of the control group had no signal abnormalities on conventional MR images. The susceptibility measures of right side of globus pallidus, putamen, thalamus, midbrain, and entire pons were significantly different in patients compared to controls (P < 0.05). CONCLUSION: QSM method exhibits increased susceptibility differences of basal ganglia and brain stem in patients with WD that have neurologic impairment even if no signal alteration is detected on T1- and T2-weighted MR images.

Apparent diffusion coefficient in differentiation of pediatric posterior fossa tumors.

PURPOSE: To investigate the contribution of preoperative apparent diffusion coefficient (ADC) values in the differential diagnosis of pediatric posterior fossa tumors. METHODS: Forty-two pediatric patients (mean age 7.76 ± 4.58 years) with intra-axial tumors in the infra-tentorial region underwent magnetic resonance imaging. ADC measurement was performed using regions of interest, obtained from the solid component of the mass lesions. ADC ratios were calculated by dividing the ADC values from the mass lesions by the ADC values from normal cerebellar parenchyma. Lesions were categorized as juvenile pilocytic astrocytoma (JPA), ependymoma and medulloblastoma based on histopathological diagnosis. ADC values of the lesions and histopathological diagnoses were statistically correlated. RESULTS: Histopathological diagnosis showed that 14 lesions were JPA, 10 were ependymoma; 18 were medulloblastoma. Both ADC values and ADC ratios were significantly correlated with tumor types (p <0.05). Astrocytoma was distinguished from ependymoma with sensitivity 85.7% and specificity 90% using an ADC ratio ≥1.7 and medulloblastoma was distinguished from ependymoma with sensitivity 100% and specificity 88.89% using an ADC ratio ≤1.18. CONCLUSION: Preoperative ADC values could differentiate the main histological subtypes of pediatric posterior fossa tumors with high sensitivity and specificity.

Diffusion weighted imaging in differentiating malignant and benign neuroblastic tumors.

PURPOSE: Our aim was to assess diffusion weighted imaging (DWI) of neuroblastic tumors and whether apparent diffusion coefficient (ADC) value may have a role in discrimination among neuroblastoma, ganglioneuroblastoma and ganglioneuroma. MATERIAL AND METHODS: The DWIs (b = 0-800 s/mm(2)) of 24 children (13 girls, 11 boys) who were diagnosed neuroblastic tumors on histopathological examination (neuroblastoma = 15, ganglioneuroblastoma = 5, ganglioneuroma = 4) were evaluated retrospectively. The ADC maps were performed by drawing freehand ROI on PACS (Sectra Workstation IDS7, Linköping, Sweden). RESULTS: We observed a significant decrease in ADC value of neuroblastomas 0.869 ± 0.179 × 10(-3) mm(2)/s compared to ganglioneuroblastomas 0.97 ± 0.203 × 10(-3) mm(2)/s and ganglioneuromas 1.147 ± 0.299 × 10(-3) mm(2)/s (p = 0.026). There was no significant difference in between ganglioneuroblastoma and ganglioneuroma (p = 0.16). In detecting neuroblastomas; the sensitivity, specificity, negative and positive predictive values of ADC were 74, 67, 78.6, 66 % respectively with a cut-off value of 0.93 × 10(-3) mm(2)/s. CONCLUSION: Our study stands out as the most comprehensive study with larger sample size on this topic. Moreover, we are able to suggest a cut-off value which can discriminate neuroblastoma from ganglioneuroblastoma and ganglioneuroma. We believe that ADC will evolve to an objective, quantitative measurement in discrimination among malignant and benign neuroblastic tumors.

Real-time sonoelastography of the patellar and quadriceps tendons: pattern description in professional athletes and healthy volunteers.

AIMS: The comparison of elastographic features of quadriceps and patellar tendons in a group of professional athletes and healthy volunteers and the description of elasticity characteristics of these tendons. MATERIAL AND METHODS: Thirty-nine professional athletes (22 male, 17 female; mean age 18.5 years) and 35 healthy volunteers (21 male, 14 female; mean age 19 years) were included. They were divided into two groups by gender. Quadriceps tendon, patellar side of the patellar tendon, and tibial side of the patellar tendon elasticity patterns and strain ratios were investigated with real-time ultrasound elastography. The elasticity features of the dominant leg and non-dominant leg of athletes and volunteers legs were compared. In addition quadriceps and patellar tendons were compared separately for three distinct tendon locations. RESULTS: There was no difference between the athletes and the healthy volunteers and also between the dominant leg and non-dominant leg of athletes. At tendon comparison, the quadriceps tendon was harder than the patellar tendon at both side and patellar side of patellar tendon was found to be stiffer than the tibial side of patellar tendon. CONCLUSIONS: Although biomechanical studies showed that tendon stiffness increased after long exercise, no significant difference was found between athletes' and healthy volunteers' tendon elasticity. These three tendon locations exhibit different elasticity features and the knowledge of the elasticity feature will be useful in assessing tendon pathologies.

Contribution of real-time elastography in diagnosis of polycystic ovary syndrome.

PURPOSE: We aimed to assess the feasibility and reproducibility of real-time elastography (RTE) for displaying the effects of morphological changes in the ovary in polycystic ovary syndrome (PCOS). METHODS: Forty-eight patients diagnosed with PCOS and 48 healthy women were enrolled in the study. Ultrasonography and RTE were performed on the 3rd day of the menstrual cycle. Evaluations were performed independently by two radiologists. Ovarian volume, number of follicles, elasticity pattern, and strain ratio were measured. Elasticity patterns were assessed as hard (type 1; blue or blue-green), moderate (type 2; green or green-yellow) or soft (type 3; red or orange-red). RESULTS: Both radiologists determined the elasticity pattern as mostly type 1 in the PCOS group and type 3 in the control group (P < 0.01). The mean strain ratios obtained by the first and second radiologist were 6.1±1.8 (2.7-10.1) and 6.0±1.5 (3.0-9.0) in PCOS and 3.3±1.2 (1.7-7.2) and 3.2±0.9 (1.7-6.8) in the control group, respectively (P < 0.001). Interobserver agreement was moderate for the elasticity pattern (κ=0.48) and good for the strain ratio (intraclass correlation coefficient, 0.77). A strain ratio of 3.8 was determined as the optimized cutoff point by receiver operating curve analysis. Strain ratio was correlated with the ovarian volume and the number of detected follicles (P < 0.001). CONCLUSION: Elasticity pattern and strain ratio can help identify morphological changes that make PCOS ovaries stiffer than normal ovaries.