Neonatal Developmental Venous Anomalies: Clinicoradiologic Characterization and Follow-Up.

BACKGROUND AND PURPOSE: Although developmental venous anomalies have been frequently studied in adults and occasionally in children, data regarding these entities are scarce in neonates. We aimed to characterize clinical and neuroimaging features of neonatal developmental venous anomalies and to evaluate any association between MR imaging abnormalities in their drainage territory and corresponding angioarchitectural features. MATERIALS AND METHODS: We reviewed parenchymal abnormalities and angioarchitectural features of 41 neonates with developmental venous anomalies (20 males; mean corrected age, 39.9 weeks) selected through a radiology report text search from 2135 neonates who underwent brain MR imaging between 2008 and 2019. Fetal and longitudinal MR images were also reviewed. Neurologic outcomes were collected. Statistics were performed using χ2, Fisher exact, Mann-Whitney U, or t tests corrected for multiple comparisons. RESULTS: Developmental venous anomalies were detected in 1.9% of neonatal scans. These were complicated by parenchymal/ventricular abnormalities in 15/41 cases (36.6%), improving at last follow-up in 8/10 (80%), with normal neurologic outcome in 9/14 (64.2%). Multiple collectors (P = .008) and larger collector caliber (P < .001) were significantly more frequent in complicated developmental venous anomalies. At a patient level, multiplicity (P = .002) was significantly associated with the presence of ≥1 complicated developmental venous anomaly. Retrospective fetal detection was possible in 3/11 subjects (27.2%). CONCLUSIONS: One-third of neonatal developmental venous anomalies may be complicated by parenchymal abnormalities, especially with multiple and larger collectors. Neuroimaging and neurologic outcomes were favorable in most cases, suggesting a benign, self-limited nature of these vascular anomalies. A congenital origin could be confirmed in one-quarter of cases with available fetal MR imaging.

Noninvasive Assessment of Hemodynamic Stress Distribution after Indirect Revascularization for Pediatric Moyamoya Vasculopathy.

BACKGROUND AND PURPOSE: Indirect revascularization surgery is an effective treatment in children with Moyamoya vasculopathy. In the present study, we hypothesized that DSC-PWI may reliably assess the evolution of CBF-related parameters after revascularization surgery, monitoring the outcome of surgical pediatric patients with Moyamoya vasculopathy. Thus, we aimed to evaluate differences in DSC-PWI parameters, including the hemodynamic stress distribution, in surgical and nonsurgical children with Moyamoya vasculopathy and to correlate them with long-term postoperative outcome. MATERIALS AND METHODS: Pre- and postoperative DSC parameters of 28 patients (16 females; mean age, 5.5 ± 4.8 years) treated with indirect revascularization were compared with those obtained at 2 time points in 10 nonsurgical patients (6 females; mean age, 6.9 ± 4.7 years). We calculated 4 normalized CBF-related parameters and their percentage variance: mean normalized CBF of the MCA territory, mean normalized CBF of the proximal MCA territory, mean normalized CBF of cortical the MCA territory, and hemodynamic stress distribution. The relationship between perfusion parameters and postoperative outcomes (poor, fair, good, excellent) was explored using 1-way analysis of covariance (P < .05). RESULTS: A significant decrease of the mean normalized CBF of the proximal MCA territory and hemodynamic stress distribution and an increase of the mean normalized CBF of the cortical MCA territory were observed after revascularization surgery (P < .001). No variations were observed in nonsurgical children. Postoperative hemodynamic stress distribution and its percentage change were significantly different in outcome groups (P < .001). CONCLUSIONS: DSC-PWI indices show postoperative hemodynamic changes that correlate with clinical outcome after revascularization surgery in children with Moyamoya disease.

MR Imaging Diagnosis of Diencephalic-Mesencephalic Junction Dysplasia in Fetuses with Developmental Ventriculomegaly.

Diencephalic-mesencephalic junction dysplasia is a rare malformation characterized by a poorly defined junction between the diencephalon and the mesencephalon, associated with a characteristic butterfly-like contour of the midbrain (butterfly sign). This condition may be variably associated with other brain malformations, including callosal abnormalities and supratentorial ventricular dilation, and is a potential cause of developmental hydrocephalus. Here, we have reported 13 fetuses with second-trimester obstructive ventriculomegaly and MR features of diencephalic-mesencephalic junction dysplasia, correlating the fetal imaging with available pathology and/or postnatal data. The butterfly sign can be clearly detected on axial images on fetal MR imaging, thus allowing for the prenatal diagnosis of diencephalic-mesencephalic junction dysplasia, with possible implications for the surgical management of hydrocephalus and parental counseling.

Structural Connectivity Analysis in Children with Segmental Callosal Agenesis.

BACKGROUND AND PURPOSE: Segmental callosal agenesis is characterized by the absence of the intermediate callosal portion. We aimed to evaluate the structural connectivity of segmental callosal agenesis by using constrained spherical deconvolution tractography and connectome analysis. MATERIALS AND METHODS: We reviewed the clinical-radiologic features of 8 patients (5 males; mean age, 3.9 years). Spherical deconvolution and probabilistic tractography were performed on diffusion data. Structural connectivity analysis, including summary network metrics, modularity analysis, and network consistency measures, was applied in 5 patients and 10 age-/sex-matched controls. RESULTS: We identified 3 subtypes based on the position of the hippocampal commissure: beneath the anterior callosal remnant in 3 patients (type I), beneath the posterior callosal remnant in 3 patients (type II), and between the anterior and posterior callosal remnants in 2 patients (type III). In all patients, the agenetic segment corresponded to fibers projecting to the parietal lobe, and segmental Probst bundles were found at that level. Ectopic callosal bundles were identified in 3 patients. Topology analysis revealed reduced global connectivity in patients compared with controls. The network topology of segmental callosal agenesis was more variable across patients than that of the control connectomes. Modularity analysis revealed disruption of the structural core organization in the patients. CONCLUSIONS: Three malformative subtypes of segmental callosal agenesis were identified. Even the absence of a small callosal segment may impact global brain connectivity and modularity organization. The presence of ectopic callosal bundles may explain the greater interindividual variation in the connectomes of patients with segmental callosal agenesis.

WES in a family trio suggests involvement of TECPR2 in a complex form of progressive motor neuron disease.

We have performed whole-exome sequencing in a family trio with a 16-year-old girl suffering of progressive motor neuron disease. There was no family history of the disease and no parental consanguinity. Our exome analysis indicated the proband as a compound heterozygote for two missense variants in the TECPR2 gene according to a recessive mode of inheritance. The TECPR2 gene has been reported as a positive regulator of autophagy which is an essential mechanism for maintaining neuron homeostasis and survival and plays a key role in major adult and pediatric neurodegenerative diseases. Variants in this gene have been found responsible for a recently described form of hereditary spastic paraplegia called SPG49 in two previous reports. We propose that both variants causing amino acid substitution, p.Leu684Val and p.Thr903Met, inherited in trans-phase compound heterozygote form, can be responsible for the phenotype observed in our patient. We also consider the possible contribution of a heterozygous variant in the SPG7 gene. Sanger sequencing confirmed the segregation of variants within the family tree including the patient's unaffected brother.

Variability of Cerebral Deep Venous System in Preterm and Term Neonates Evaluated on MR SWI Venography.

BACKGROUND AND PURPOSE: The anatomy of the deep venous system is characterized by a great variability that might play an important role in the pathogenesis of brain lesions in the preterm brain. The aim of this study was to compare the anatomy of cerebral subependymal veins evaluated on SWI venography in 3 groups of neonates with normal brain MR imaging (very preterm [gestational age <32 weeks], moderate-to-late preterm [gestational age ≥32 to ≤37 weeks], and term neonates [gestational age >37 weeks]) and to evaluate the influence of preterm birth on development of subependymal veins. MATERIALS AND METHODS: SWI venographies of 84 very preterm, 31 moderate-to-late preterm, and 50 term neonates were retrospectively evaluated. Subependymal vein anatomy was classified into 6 different patterns: type 1 represented the classic pattern and types 2-6 were considered anatomic variants. A χ2 test was used to evaluate differences between the distributions of subependymal vein patterns. RESULTS: A significant difference (P = .011) was noticed between the 6 patterns based on gestational age. Type 1 was more frequent in term neonates (68%) than in both very preterm (41.7%) and moderate-to-late preterm neonates (56.5%). Anatomic variants were more common in very preterm neonates (66%) than in both moderate-to-late preterm (41%) and term neonates (36%). Interhemispheric asymmetry was more frequent in very preterm (59.5%) and moderate-to-late preterm neonates (51.6%) than in term neonates (34%; P = .017). Sex and monozygotic twin birth did not significantly affect the frequency of subependymal vein patterns (P = .0962). CONCLUSIONS: The deep venous system of the neonatal brain shows a large spectrum of anatomic variants with higher variability of subependymal vein anatomy in preterm than term neonates, likely related to the influence of the preterm birth and epigenetic factors on subependymal vein development.

Delayed rotation of the cerebellar vermis: a pitfall in early second-trimester fetal magnetic resonance imaging.

We describe two cases in which delayed rotation of the cerebellar vermis simulated a Dandy-Walker malformation (DWM) on early second-trimester magnetic resonance imaging (MRI). Two pregnant women with suspected fetal posterior fossa anomaly on ultrasound examination underwent fetal MRI at 21 (Case 1) and 19 (Case 2) weeks' gestation. In both cases, upward rotation of the cerebellar vermis was noted; on midsagittal imaging, the brainstem-vermis angle was 28° and 43°, respectively, while cerebellar morphometry showed a reduced vermian anteroposterior diameter compared to reference data. The posterior fossa appeared to be mildly enlarged, while all other findings were normal. Follow-up MRI at 28 + 3 weeks' gestation (Case 1) and at 1 postnatal year (Case 2) showed completely normal findings. Both children had normal psychomotor development and neurological examinations at 1 year of age. Incomplete rotation of the cerebellar vermis can be a physiological finding on early second-trimester fetal MRI examination and can simulate DWM or other forms of cerebellar hypoplasia. Embryologically, delayed permeabilization of Blake's pouch could account for the delayed vermian rotation. Follow-up imaging at a later gestational age is crucial to ensure that this condition is not over-reported and to avoid the potential risk of unnecessary pregnancy interruption. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd.

Pineal germinoma in a child with interferon-γ receptor 1 deficiency. case report and literature review.

Interferon-γ receptor 1 (IFN-γR1) deficiency is one of the primary immunodeficiencies conferring Mendelian Susceptibility to Mycobacterial Disease (MSMD). Some cases of neoplasms have been recently reported in patients with MSMD, underlying the already known link between immunodeficiency and carcinogenesis. We report the first case of intracranial tumour, i.e. pineal germinoma, in a 11-year-old patient with complete IFN-γR1 deficiency. The first clinical presentation of the genetic immunodeficiency dates back to when the child was aged 2 y and 10 mo, when he presented a multi-focal osteomyelitis caused by Mycobacterium scrofulaceum. The diagnosis of IFN-γR1 deficiency (523delT/523delT in IFNGR1 gene) was subsequently made. The child responded to antibiotic therapy and remained in stable clinical condition until the age of 11 years, when he started complaining of frontal, chronic headache. MRI revealed a solid pineal region mass lesion measuring 20 × 29 × 36 mm. Histological findings revealed a diagnosis of pineal germinoma. The patient received chemotherapy followed by local whole ventricular irradiation with boost on pineal site, experiencing complete remission, and to date he is tumor-free at four years follow-up. Four other cases of tumors have been reported in patients affected by MSMD in our knowledge: a case of Kaposi sarcoma, a case of B-cell lymphoma, a case of cutaneous squamous cell carcinoma and a case of oesophageal squamous cell carcinoma. In conclusion, in patients with MSMD, not only the surveillance of infectious diseases, but also that of tumors is important.

Anti-NMDAR encephalitis misdiagnosed as Hashimoto's encephalopathy.

Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is a well-defined autoimmune disorder. Hashimoto's encephalopathy (HE) is a still controversial entity, lacking definite diagnostic criteria. We described a 14-year-old-girl presenting with a clinical picture consistent with the diagnosis of anti-NMDAR encephalitis, confirmed by NMDAR antibody testing. Four years earlier, she had presented a similar episode of acute encephalopathy diagnosed as HE. Anti-NMDAR encephalitis and HE share similar clinical features so that the differential diagnosis can be difficult if specific antibodies are not tested. The correct diagnosis of anti-NMDAR encephalitis is crucial to plan the appropriate management and follow-up, namely in term of oncological screening, since it can be paraneoplastic in origin. We suggest to re-evaluate the clinical history of all subjects with previous HE diagnosis in order to evaluate the possible diagnosis of anti-NMDAR encephalitis and plan the appropriate management of these patients.

Malignant focal liver lesions at contrast-enhanced ultrasonography and magnetic resonance with hepatospecific contrast agent.

The aim of this study was to compare the diagnostic accuracy of the late phase of CEUS and the hepatobiliary phase of CE-MR with Gd-BOPTA in the characterization of focal liver lesions in terms of benignity and malignancy. A total of 147 solid focal liver lesions (38 focal nodular hyperplasias, 1 area of focal steatosis, 3 regenerative nodules, 8 adenomas, 11 cholangiocarcinomas, 36 hepatocellular carcinomas and 49 metastases) were retrospectively evaluated in a multicentre study, both with CEUS, using sulphur hexafluoride microbubbles (SonoVue, Bracco, Milan, Italy) and CE-MR, performed with Gd-BOPTA (Multihance, Bracco, Milan, Italy). All lesions thought to be malignant were cytohistologically proven, while all lesions thought to be benign were followed up. Sensitivity, specificity, positive (PPV) and negative (NPV) predictive values and accuracy were calculated for the late phase of CEUS and the hepatobiliary phase of CE-MRI, respectively, and in combination. Analysis of data revealed 42 benign and 105 malignant focal liver lesions. We postulated that all hypoechoic/hypointense lesions on the two phases were malignant. The diagnostic errors were 13/147 (8.8%) by CEUS and 12/147 (8.2%) by CE-MR. Sensitivity, specificity, PPV, NPV and accuracy of the late phase of CEUS were 90%, 93%, 97%, 80% and 91%, 93%, 97%, 81% and 92% for the hepatobiliary phase of CE-MRI, respectively. If we considered both techniques, the misdiagnosis diminished to 3/147 (2%) and sensitivity, specificity, PPV, NPV and accuracy were 98%, 98%, 99%, 95% and 98%. The combination of the late phase of CEUS and the hepatobiliary phase of CE-MR in the characterization of solid focal liver lesions in terms of benignity and malignancy is more accurate than the two techniques used separately.

Glioneuronal tumors and epilepsy in children: seizure outcome related to lesionectomy.

AIM: Glioneuronal tumors (especially gangliogliomas and dysembryoplastic neuroepithelial tumors) are an increasingly recognised cause of drug-resistant epilepsy in children. The optimal surgical strategy (lesionectomy vs. extended resection of epileptogenic peritumoral areas) to obtain seizure control has not been fully established. Our aim was to analyze the post-surgical seizure outcome in children with epileptogenic glioneuronal tumors related to lesionectomy. METHODS: The clinical data were collected through a database. Video-EEG and MRI were performed in all patients pre-operatively and at the follow-up. RESULTS: Our series included 22 patients. The age range at surgery was 10 months-16 years (mean: 6.5±4.5 years). Epilepsy duration ranged 1-78 months (mean: 11.6±17.0). There were complex partial seizures in 14 cases, simple partial seizures in 6 patients and generalized epilepsy in 2. Gross-total surgical removal was achieved in 15 (68.2%) patients. At the last follow-up (mean 4.7 years), 20 (90.9%) patients were seizure-free (Engel Class I) and two (9.1%) were Engel Class III. Six out of seven (85.7%) patients with subtotal removal were Engel Class I. Statistical analysis failed to detect any difference between seizure outcome (Engel Class) and tumor type (DNT vs. GG; P=1.00) or location (temporal vs. non temporal; P=0.51), and extension of the resection (total vs. subtotal; P=1.00). CONCLUSION: Primary aim of the surgery for epileptogenic glioneuronal tumors is to remove the lesion and to obtain a complete seizure control. However, if a complete tumor resection cannot be carried out, a subtotal removal of the lesion can equally provide satisfactory results.

Imaging techniques for assessment of inflammatory bowel disease: joint ECCO and ESGAR evidence-based consensus guidelines.

The management of patients with IBD requires evaluation with objective tools, both at the time of diagnosis and throughout the course of the disease, to determine the location, extension, activity and severity of inflammatory lesions, as well as, the potential existence of complications. Whereas endoscopy is a well-established and uniformly performed diagnostic examination, the implementation of radiologic techniques for assessment of IBD is still heterogeneous; variations in technical aspects and the degrees of experience and preferences exist across countries in Europe. ECCO and ESGAR scientific societies jointly elaborated a consensus to establish standards for imaging in IBD using magnetic resonance imaging, computed tomography, ultrasonography, and including also other radiologic procedures such as conventional radiology or nuclear medicine examinations for different clinical situations that include general principles, upper GI tract, colon and rectum, perineum, liver and biliary tract, emergency situation, and the postoperative setting. The statements and general recommendations of this consensus are based on the highest level of evidence available, but significant gaps remain in certain areas such as the comparison of diagnostic accuracy between different techniques, the value for therapeutic monitoring, and the prognostic implications of particular findings.

Role of echocardiography and cardiac MRI in depicting morphological and functional imaging findings useful for diagnosing hypertrophic cardiomyopathy.

PURPOSE: Hypertrophic cardiomyopathy (HCM) is a hereditary disease characterised by primary hypertrophy of the left and/or right ventricle. The reference standard for imaging diagnosis is echocardiography. The aim of our study was to prospectively compare the diagnostic accuracy of echocardiography and cardiac magnetic resonance (MR) imaging in patients with HCM. MATERIALS AND METHODS: Twenty-two consecutive patients with a known diagnosis of HCM were prospectively evaluated, with echocardiography and cardiac MR imaging performed within 2 weeks of each other (mean interval 7 days, range 2-14 days). Two experienced radiologists blinded to the previous clinical and imaging findings separately reviewed the images. The following parameters were calculated for both techniques: myocardial mass, wall thickness, end-diastolic volume (EDV), end-systolic volume (ESV), ejection fraction (EF), systolic anterior motion (SAM) of the mitral valve and degree of myocardial fibrosis (based on the ultrasonic reflectivity at echocardiography and degree of late enhancement at cardiac MR imaging). The statistical correlation was calculated with Student's t test, Spearman coefficient and Fisher's exact test. A value of p<0.05 was considered significant. RESULTS: The diagnosis of HCM was confirmed in all patients with both techniques, with absolute agreement in terms of the site of disease. The mean value of myocardial mass presented a statistically significant difference between the two techniques (114 g, p<0.001). In contrast, a nonsignificant difference between echocardiography and cardiac MR imaging was found for EDV (102 ml vs 111 ml; p=0.31), ESV (30 ml vs 38 ml; p=0.1), EF (74% vs 68%, p=0.5), SAM (p=0.1) and myocardial fibrosis (p=0.15). CONCLUSIONS: Cardiac MR imaging correlates well with echocardiography in defining the morphological and functional parameters useful for the imaging diagnosis of HCM and therefore, in selected cases (poor acoustic window, doubtful echocardiography findings), it may be a valid alternative to echocardiography.

Staging cancer of the pancreas.

Pancreatic carcinoma is the fourth cause of death from cancer in the United States, with a survival rate at 5 years of less than 5%. About 60% of tumors originate at the head of the pancreas, 15% in the body, 5% in the tail; 20% are diffuse within the pancreas. This article discusses the imaging and staging of pancreatic cancer.

Clinical Risk Management in radiology. Part I: general background and types of error and their prevention.

The present contribution, presented as an Editorial, addresses the issue of patient safety in Radiology: this topic, of great current National and Regional interest, has stimulated a strong focus on accidents and mistakes in medicine, together with the diffusion of procedures for Risk Management in all health facilities. The possible sources of incidents in the radiological process are exposed, due to human errors and to system errors connected both to the organization and to the dissemination of Information Technology in the Radiological world. It also describes the most common methods and tools for risk analysis in health systems, together with some application examples presented in Part II.

Pituitary tumors: advances in neuroimaging.

Pediatric pituitary tumors, albeit relatively infrequent, can significantly alter the quality of life of affected children. Accurate diagnostic differentiation is essential for both safe and effective disease management. Recent advances in neuroimaging have enabled the neuroradiologist to study the pituitary region in greater detail than ever before. Magnetic resonance imaging (MRI) represents the examination method of choice for evaluating hypothalamic-pituitary-related endocrine diseases due to its ability to provide strongly contrasted high-resolution, multiplanar and spatial images. Specifically, MRI allows the detection of the pituitary lesions responsible of the clinical picture and offers useful information about the relationship with adjacent anatomical structures in order to plan the medical or surgical strategy. A rigorous imaging exam technique is necessary in order to obtain images of high diagnostic quality. Advanced MR techniques, including diffusion-weighted imaging and MR spectroscopy, may be helpful in particular cases. Computerized tomography (CT) has a complementary role in the identification of intralesional calcifications or to better evaluate bone structures prior to trans-sphenoidal surgery. The aim of this work is to provide an overview of the most relevant neuroradiological features of pituitary region tumors and to propose an appropriate and accurate differential diagnosis.

Neuroradiology of chemotherapeutic. Neurotoxicity in children.

Hemolymphoproliferative diseases and brain tumors are among the most common causes of morbidity and mortality in children. In the past few years, increased effectiveness of treatment modalities has significantly increased overall survival, but has also disclosed new aspects of the natural history of these disorders, among which central nervous system involvement due to iatrogenic side-effects. Magnetic resonance imaging plays an important, often crucial, role in the diagnosis of several of these disorders. Close interdisciplinary collaboration between hemato-oncologists and neuroradiologists is of paramount importance to provide affected children with an early diagnosis and proper treatment.

Cardiac computed tomography in the evaluation of left anterior descending coronary artery with vein patch reconstruction.

PURPOSE: This study evaluated the morphological and functional results of surgical reconstruction of the left anterior descending (LAD) coronary artery with an autologous vein patch, associated with left internal mammary artery (LIMA) grafting onto the patch. MATERIALS AND METHODS: Cardiac computed tomography (CT) images were assessed in terms of functional and morphological parameters. Function was evaluated by assessing patency at 36 months of the reconstructed LAD (based on the attenuation of the native vessel distal to the anastomosis). Morphology was evaluated by studying vein-patch diameters, profiles and margins, shape and structure to categorise the patches into three groups (A, B, C). Within 1 month of CT, all patients underwent functional testing (bicycle ergometry). RESULTS: CT imaging correctly depicted the LAD graft, revealing it to be fully patent in all cases. On the basis of our morphological classification, 21 patients were classed as group A, two as group B and two as group C. At bicycle ergometry, 23 patients were negative and two were positive. Group C patients had the worst functional results. CONCLUSIONS: Cardiac CT allowed adequate evaluation of the LAD graft patency and morphology, and in consideration of its noninvasive nature, it may become the imaging tool of choice for evaluating extended LAD reconstruction.

Enhancing cranial nerves and cauda equina: an emerging magnetic resonance imaging pattern in metachromatic leukodystrophy and krabbe disease.

We report on three cases of infantile Krabbe disease and one case of infantile metachromatic leukodystrophy showing magnetic resonance (MR) imaging findings of diffuse and coexistent cranial nerve and cauda equina nerve roots enhancement. Such findings may be simultaneous, or even precede, typical white matter abnormalities and, in the appropriate clinical context, may facilitate an earlier diagnosis. There is a rational for the use of contrast agents and craniospinal MR imaging during the first imaging of children with a history of psychomotor regression and clinical evidence of peripheral nerve involvement to exclude differential diagnoses.

Neuroimaging findings in malignant infantile osteopetrosis due to OSTM1 mutations.

Malignant infantile osteopetrosis (MIOP) is a rare autosomal recessive disorder of bone resorption characterized by early bone marrow failure, proneness to fractures, and visual deterioration, variably associated with impairments of other cranial nerves due to narrowing of skull base foramina. About 10% of patients with MIOP show severe neurological involvement, which contraindicates bone marrow transplantation. We report on a 12-month-old female with recessive OSMT1 mutations and neuroimaging findings suggesting a neurodegenerative storage disorder.