Arterial spin labelling: predictive role in surgical bleeding of paediatric optic pathway gliomas.

AIM: To analyse the performance of arterial spin labelling (ASL) in predicting surgical bleeding in a paediatric cohort of optic pathway glioma (OPG). MATERIALS AND METHODS: Preoperative ASL data were obtained for 51 OPG in 40 patients, aged from 9 months to 16 years. The relative cerebral blood flow (rCBF) in the tumour areas with the highest CBF (maximum rCBF) was measured and then correlated with qualitative local bleeding (graded no, moderate, and major by the neurosurgeon) and quantitative global surgical bleeding (assessed in millilitres using haematocrit data). RESULTS: Intratumoural maximum rCBF was significantly higher when qualitative local bleeding was high (median value in the no, moderate, and major bleeding groups equal to 0.81, 1.39 and 4.22, respectively, p=0.004), but there was no difference in global quantitative bleeding (p=0.7 for the total blood loss). The maximum tumour rCBF cut-off value of 1.1 yielded a sensitivity of 73%, a specificity of 78%, and an accuracy of 76% (39/51 tumours) in detecting haemorrhagic OPG. Choosing a maximum tumour rCBF cut-off value > 1.7 improved the specificity in diagnosing tumours with high bleeding risk with a specificity of 94%, a sensitivity of 53%, and an accuracy of 82% (42/51 tumours). CONCLUSION: ASL tumoural rCBF is a useful and simple diagnostic tool to help predict high intraoperative tumoural bleeding risk in paediatric OPG.

Biometric and morphological features on magnetic resonance imaging of fetal bladder in lower urinary tract obstruction: new perspectives for fetal cystoscopy.

OBJECTIVES: Incompatibility between currently available fetoscopes and the anatomical constraints of the distended fetal bladder, with the resulting curvature around the bladder neck, account for most technical difficulties during fetal cystoscopy in lower urinary tract obstruction (LUTO). The aim of this anatomical study was to assess by magnetic resonance imaging (MRI) the variation in three bladder angles (bladder-neck angle (BNA), vesicourethral angle (VUA) and angle between bladder dome and posterior urethra (DUA)), according to gestational age (GA), bladder volume and the presence of LUTO. METHODS: From our fetal medicine database, we retrieved for review 46 MRI examinations of male fetuses between 2015 and 2019, including 17 with LUTO, examined at a mean GA of 28.1 (range, 17.3-35.0) weeks and 29 age-matched controls, examined at 29.9 (range, 21.9-35.0) weeks. We measured bladder volume, bladder-wall thickness and the three bladder angles, and used the Mann-Whitney U-test to compare values between groups. Variations according to GA and bladder volume were determined using analysis of variance (ANOVA). A reliability study was performed using the Bland-Altman method and Lin's correlation coefficient was calculated. RESULTS: Both bladder volume and bladder-wall thickness were significantly greater in the LUTO group (P < 0.01). BNA was significantly larger in LUTO compared with control fetuses: the mean (range) was 127.1° (101.6-161.6°) vs 111.2° (88.5-157.3°) (P < 0.01). DUA averaged 117° and showed no difference between the groups (P = 0.92). No statistical comparison was performed on VUA since this was not measurable in most control fetuses. ANOVA showed no variation of any angle with bladder volume in both LUTO fetuses and control fetuses. BNA in LUTO fetuses was the only angle to vary with GA, being larger after, compared with at or before, 25 weeks (P = 0.04). The reliability study showed an acceptable bias for both intra- and interobserver reproducibility for all three angles. CONCLUSION: The findings that BNA is increased by approximately 15° in fetuses with LUTO and DUA averages 117° could aid in development of a customized fetal cystoscope and help to overcome the current technical challenges of fetal cystoscopy. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd.

Correction to: Diffusion tensor imaging (DTI) and Tractography of the spinal cord in pediatric population with spinal lipomas: preliminary study.

The article which was recently published contained error. The figures and figure captions were interchanged during the publication process of the paper.

Diffusion tensor imaging (DTI) and Tractography of the spinal cord in pediatric population with spinal lipomas: preliminary study.

PURPOSE: Diffusion tensor imaging (DTI) allows studying the micro and macro architecture. One of the major challenges in dysraphism is to know the morphologic organization of the spinal cord. In a preliminary work, spinal lipoma was chosen for analyzing the micro-architecture parameters and fiber morphology of the spinal cord by DTI with tractography. METHODS: Twelve patients (0-8 years) related to spinal lipomas treated between May 2017 and March 2018 were included. Tractography reconstruction of the conus medullaris of 12 patients were obtained using the MedINRIA software. The diffusion parameters have been calculated by Osirix DTImap plugin. RESULTS: We found a significant difference in the FA (p = 0.024) between two age groups (< 24 months old and > 24 months old). However, no significant differences in the mean values of FA, RD, and MD between the level of the lipoma and the level above were noted. The tractography obtained in each case was coherent with morphologic sequences and reproducible. The conus medullaris was deformed and shifted. Destruction or disorganization of fibers and any passing inside the lipomas was not observed. CONCLUSIONS: Tractography of the conus medullaris in a very young pediatric population (0-8 years old) with a spinal lipoma is possible, reproductive, and allows visualization of the spinal cord within the dysraphism. Analysis of the FA shows that the presence of a lipoma seems to have an effect on the myelination of the conus medullaris. It is during the probable myelination phase that the majority of symptoms appear. Is the myelination per se the cause?

Comprehensive molecular screening strategy of OCLN in band-like calcification with simplified gyration and polymicrogyria.

Occludin (OCLN) is an important component of the tight junction complex, providing apical intercellular connections between adjacent cells in endothelial and epithelial tissue. In 2010 O'Driscoll et al reported mutations in OCLN to cause band-like calcification with simplified gyration and polymicrogyria (BLC-PMG). BLC-PMG is a rare autosomal recessive syndrome, characterized by early onset seizures, progressive microcephaly, severe developmental delay and deep cortical gray matter and basal ganglia calcification with symmetrical, predominantly fronto-parietal, polymicrogyria. Here we report 4 additional cases of BLC-PMG with novel OCLN mutations, and provide a summary of the published mutational spectrum. More generally, we describe a comprehensive molecular screening strategy taking into account the technical challenges associated with the genetic architecture of OCLN, which include the presence of a pseudo-gene and copy number variants.

Diffuse intrinsic pontine gliomas (DIPG) at recurrence: is there a window to test new therapies in some patients?

Children with diffuse intrinsic pontine glioma (DIPG) need new and more efficient treatments. They can be developed at relapse or at diagnosis, but therefore they must be combined with radiotherapy. Survival of children after recurrence and its predictors were studied to inform the possibility to design early phase clinical trials for DIPG at this stage. Among 142 DIPG patients treated between 1998 and 2014, 114 had biopsy-proven DIPG with histone H3 status available for 83. We defined as long survivors' patients who survived more than 3 months after relapse which corresponds to the minimal life expectancy requested for phase I/II trials. Factors influencing post-relapse survival were accordingly compared between short and long-term survivors after relapse. Fifty-seven percent of patients were considered long survivors and 70% of them had a Lansky Play Scale (LPS) above 50% at relapse. Patients who became steroids-independent after initial treatment for at least 2 months had better survival after relapse (3.7 versus 2.6 months, p = 0.001). LPS above 50% at relapse was correlated with better survival after relapse (3.8 versus 1.8 months, p < 0.001). Patients with H3.1 mutation survived longer after relapse (4.9 versus 2.7 months, p = 0.007). Patients who received a second radiotherapy at the time of relapse had an improved survival (7.5 versus 4 months, p = 0.001). In the two-way ANOVA analysis, steroid-independence and LPS predicted survival best and the type of histone H3 (H3.1 or H3.3) mutated did not improve prediction. Survival of many DIPG patients after relapse over 3 months would make possible to propose specific trials for this condition. Steroid-independence, H3 mutation status and LPS should be considered to predict eligibility.

Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations.

Kabuki syndrome (KS-OMIM 147920) is a rare developmental disease characterized by the association of multiple congenital anomalies and intellectual disability. This study aimed to investigate intellectual performance in children with KS and link the performance to several clinical features and molecular data. We recruited 31 children with KMT2D mutations who were 6 to 16 years old. They all completed the Weschler Intelligence Scale for Children, fourth edition. We calculated all indexes: the Full Scale Intellectual Quotient (FSIQ), Verbal Comprehension Index (VCI), Perceptive Reasoning Index (PRI), Processing Speed Index (PSI), and Working Memory Index (WMI). In addition, molecular data and several clinical symptoms were studied. FSIQ and VCI scores were 10 points lower for patients with a truncating mutation than other types of mutations. In addition, scores for FSIQ, VCI and PRI were lower for children with visual impairment than normal vision. We also identified a discrepancy in indexes characterized by high WMI and VCI and low PRI and PSI. We emphasize the importance of early identification and intensive care of visual disorders in patients with KS and recommend individual assessment of intellectual profile.

Magnetic resonance imaging for abnormally invasive placenta: the added value of intravenous gadolinium injection.

OBJECTIVES: To assess the added value of intravenous gadolinium injection to magnetic resonance imaging (MRI) -based diagnosis of abnormally invasive placenta (AIP) and to examine this in relation to the radiologist's experience. DESIGN: Retrospective study. SETTING: Between March 2009 and October 2012, 31 pregnant women who had previous caesarean delivery together with a placenta praevia and suspected placenta accreta on ultrasound in the third trimester of pregnancy. POPULATION: All were offered MRI examination, and made aware of the limited (but so far reassuring) data regarding fetal safety of gadolinium. Twenty pregnant women agreed to undergo prenatal MRI (1.5 T), with and without gadolinium injection. METHODS: Two sets of MRI examinations without and with gadolinium were reviewed independently 2 months apart by two senior and two junior radiologists; all were blinded to the outcome (known in all cases). Histopathological findings and clinical signs of AIP were considered as the defining criteria of diagnosis. MAIN OUTCOME MEASURE: accuracy of MRI with and without gadolinium was assessed. RESULTS: Eight of the 20 women had confirmed abnormal placental invasion. The overall performance of both sets of readers in detecting AIP increased with gadolinium-sensitivity and specificity of 75.0% (42.0-100%) and 47.9% (19.9-75.9%) increasing to 87.5% (57.1-100%) and 60.4% (33.9-86.9%), respectively (P = 0.04). The added value of gadolinium remained irrespective of radiologist's experience, although senior radiologists performed better overall (sensitivity and specificity of 87.5% and 62.5% versus 62.5% and 33.3%, respectively, increasing with injection to 93.8% and 70.8% versus 81.3% and 50%, respectively; P < 10-4 ). CONCLUSION: There was an association between gadolinium use and improvement in MRI-based diagnostic accuracy for the diagnosis of AIP, for both junior and senior radiologists. TWEETABLE ABSTRACT: Gadolinium injection improves MRI performance of radiologists for the diagnosis of placenta accreta.

Neuropsychological improvement after posterior fossa arachnoid cyst drainage.

PURPOSE: Posterior fossa arachnoid cysts (PFAC) are mostly considered as benign lesions of the cerebellum. Although many studies have shown the major role of the cerebellum in modulating movement, language, cognition, and social interaction, there are few studies on the cognitive impact and surgical decompression of PFAC. METHODS: We present the cases of two brothers successively diagnosed with PFAC and neuropsychological delay. After multidisciplinary discussion with the boys' parents, it was decided to drain these lesions. Clinical signs, cerebral images, and neuropsychological status were assessed on admission and then 1 and 3 years after surgery. RESULTS: At presentation, both children had mild cerebellar signs, associated with cognitive and visual-motor impairments and academic regression. CT scans revealed retrovermian cysts, which were shunted. Post-operatively, both brothers demonstrated improved visual-motor skills and behavior. At follow-up, we observed disappearance of dysarthria and academic delay and significant improvement in cognition especially at the intelligence scale and in language. Fine motor skills had improved but remained slower than the average and writing skills appeared limited. CONCLUSION: Except for PFAC which impair cerebrospinal fluid circulation or which are responsible for a significant mass effect, most PFAC are usually considered as "asymptomatic" and do not require surgical treatment. The two cases reported herein suggest that these lesions might be responsible for some associated but potentially reversible neuropsychological impairment. In the future, clinical assessment should include neuropsychological evaluation to help inform decision for surgical decompression in these children with PFAC.

[Left temporal arachnoid cyst and specific learning disorders associated with Pervasive Developmental Disorders - Not Otherwise Specified (PDD-NOS): contributions of an integrative neuropsychomotor, neuropsychological, psychopathological and neurosurgical approach about a case report in a child (François)]. / Kyste arachnoïdien temporal gauche et troubles spécifiques des apprentissages associés à un trouble envahissant du développement non spécifié (TED-NoS) : apports d'une approche intégrative neuro-psychomotrice neuropsychologique, psychopathologique et neurochirurgicale à propos d'une observation chez un enfant (le cas François).

Left temporal arachnoid cyst and specific learning disorders associated with pervasive developmental disorders - not otherwise specified (PDD-NOS): contributions of an integrative neuro-psychomotor, neuropsychological, psychopathological and neurosurgical approach about a case report in a child (François). With DSM-IV and DSM-IV-TR, the terminology of pervasive developmental disorders (PDD) covers two main categories of infantile disorders: disorders of "strictly" autistic nature and pervasive developmental disorders - not otherwise specified (PDD-NOS). Under the terminology of multiple complex developmental disorder (MCDD), it is proposed to classify children presenting symptoms approaching the psychotic disharmonies and usually diagnosed as PDD-NOS. Such a category of developmental disorders is now included without nosographic distinction in the autistic spectrum in the Diagnostic and Statistical Manual of mental disorders (DSM-V). CASE REPORT: We are reporting a case report of a 6-year-old boy which shows a PDD-NoS/MCDD complex symptomatology type. This child presents multiple disorders: minor neurological signs (soft signs), neuro-psychomotor disorders, developmental coordination disorder (DCD), communication, thought, and regulation of emotions disorders, attention deficit disorders (ADD); in the presence of a high verbal intellectual potential, which makes it difficult to establish a clear diagnosis. A cerebral magnetic resonance imaging (MRI) was carried out due to the presence of minor neurological signs (soft signs) and of neurodevelopmental multiple disorders. The MRI revealed a voluminous arachnoid temporo-polar left cyst with a marked mass effect on the left temporal lobe. DISCUSSION: A neurosurgical intervention allowed to observe the gradual disappearance of the specific symptomatology (in particular soft signs, neuro-psychomotor functions and autistic symptoms) secondary to the interference of the cyst's pressure with intracranial areas involving neurological and psychopathological abnormalities, underlying at the same time the reversibility of the disorders after decompression as demonstrated in some studies. There are always, with a quantitative and qualitative decrease, an emotional dysregulation, a DCD, an ADD as well as impairments in the executive functions. CONCLUSION: This clinical case underlines the necessity of an evaluation in a transdisciplinary way and to follow the developmental evolution of the child in order to focus adapted therapeutics. Furthermore, with neurodevelopmental disorders not specified, it is important to examine the presence of soft signs with standardized neuro-psychomotor assessment, and then, to propose an MRI investigation. To our knowledge, this is the first report in the literature with a school age child of an unusual association between a temporal arachnoid cyst associated with PDD-NOS/MCDD.

Brain imaging in mitochondrial respiratory chain deficiency: combination of brain MRI features as a useful tool for genotype/phenotype correlations.

Mitochondrial diseases are characterised by a broad clinical and genetic heterogeneity that makes diagnosis difficult. Owing to the wide pattern of symptoms in mitochondrial disorders and the constantly growing number of disease genes, their genetic diagnosis is difficult and genotype/phenotype correlations remain elusive. Brain MRI appears as a useful tool for genotype/phenotype correlations. Here, we summarise the various combinations of MRI lesions observed in the most frequent mitochondrial respiratory chain deficiencies so as to direct molecular genetic test in patients at risk of such diseases. We believe that the combination of brain MRI features is of value to support respiratory chain deficiency and direct molecular genetic tests.

[Imaging Moya-Moya disease]. / Imagerie du Moya-Moya.

Moya-Moya disease is a rare arterial occlusive disease affecting the internal carotid artery and its branches. It is found in both pediatric and adult populations, and it may lead to severe clinical presentations such as stroke and intracranial hemorrhage. Several surgical procedures have been developed to improve its clinical outcome. Imaging techniques have a key role in management of Moya-Moya disease, as they are necessary for diagnosis, choice of treatment and follow-up. Although catheter angiography remains the diagnostic gold standard, and nuclear-medicine techniques best perform hemodynamic studies, less invasive imaging techniques have become efficient in serving these purposes. Conventional MRI and MR angiography, as well as MR functional and metabolic studies, are now widely used in each stage of disease management, from diagnosis to follow-up. CT scan and Doppler sonography may also help assess severity of disease and effects of treatment. The aim of this review is to clarify the utility, efficiency and latest developments of each imaging modality in management of Moya-Moya disease.

[Aspect of brain MRI in mitochondrial respiratory chain deficiency. A diagnostic algorithm of the most common mitochondrial genetic mutations]. / Aspect en IRM cérébrale des maladies mitochondriales. Algorithme décisionnel des maladies mitochondriales les plus fréquentes.

Mitochondrial diseases are due to deficiency of the respiratory chain and are characterized by a broad clinical and genetic heterogeneity that makes diagnosis difficult. Some clinical presentations are highly suggestive of given gene mutations, allowing rapid genetic diagnosis. However, owing to the wide pattern of symptoms in mitochondrial disorders and the constantly growing number of disease genes, their genetic diagnosis is frequently difficult and genotype/phenotype correlations remain elusive. For this reason, brain MRI appears as a useful tool for genotype/phenotype correlations. Here, we report the most frequent neuroradiological signs in mitochondrial respiratory chain deficiency and we propose a diagnostic algorithm based on neuroimaging features, so as to direct molecular genetic tests in patients at risk of mitochondrial respiratory chain deficiency. This algorithm is based on the careful analysis of five areas on brain MRI: (1) basal ganglia (hyperintensities on T2 or calcifications); (2) cerebellum (hyperintensities on T2 or atrophy); (3) brainstem (hyperintensities on T2 or atrophy); (4) white matter (leukoencephalopathy); (5) cortex (sub-tentorial atrophy); (6) stroke-like episodes. We believe that the combination of brain MRI features is of value to support respiratory chain deficiency and direct molecular genetic tests.

Standardized fetal anatomical examination using magnetic resonance imaging: a feasibility study.

OBJECTIVE: To determine whether a standard complete fetal anatomical survey, as recommended for ultrasound examination guidelines, is feasible using a standardized magnetic resonance imaging (MRI) protocol. METHODS: Based on guidelines for ultrasound examination, we created a specific MRI protocol for fetal anatomical survey. This protocol was then tested prospectively in 100 women undergoing fetal MRI examination for various specific indications at a median gestational age of 30 weeks. The feasibility of using MRI to perform the fetal anatomical survey was analyzed by two reviewers (A and B) based on 26 predefined anatomical criteria, yielding a score ranging from 0 to 26 (26 meaning successful complete anatomical study). Reproducibility was analyzed using percentage agreement and modified kappa statistics. RESULTS: The mean score for the standardized MRI anatomical survey was 24.6 (SD, 1.4; range, 15-26) for Reviewer A and 24.2 (SD, 1.7; range, 15-26) for Reviewer B (P = 0.1). Twenty-two, two and two criteria could be assessed in > 95%, 80-95% and < 80% of cases by Reviewer A and 19, four and three criteria could be assessed in > 95%, 80-95% and < 80% of cases by Reviewer B. For both reviewers, the two most difficult criteria to evaluate were aorta and pulmonary artery. Inter-reviewer agreement was above 90% for 22 of the 26 anatomical criteria and adjusted kappa coefficients for each criterion demonstrated good, moderate and poor agreement for 22, two and two criteria, respectively. CONCLUSION: Our data support the hypothesis that standardized fetal anatomical examination might be achieved and reproducible using MRI, although improvement is required for the cardiac part of the examination.

Arterial Spin-Labeling in the Assessment of Pediatric Nontraumatic Orbital Lesions.

Benign and malignant pediatric orbital lesions can sometimes have overlapping features on conventional MR imaging sequences. MR imaging of 27 children was retrospectively reviewed to describe the signal of some common pediatric extraocular orbital lesions on arterial spin-labeling and to evaluate whether this sequence helps to discriminate malignant from benign masses, with or without ADC value measurements. Qualitative and quantitative assessments of arterial spin-labeling CBF and ADC were performed. All lesions were classified into 3 arterial spin-labeling perfusion patterns: homogeneous hypoperfusion (pattern 1, n = 15; benign lesions), heterogeneous hyperperfusion (pattern 2, n = 9; cellulitis, histiocytosis, malignant tumors), and homogeneous intense hyperperfusion (pattern 3, n = 3; infantile hemangiomas). Arterial spin-labeling can be a valuable tool to improve the diagnostic confidence of some orbital lesions, including infantile hemangioma. An algorithm is proposed.

A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency.

OBJECTIVE: To identify a consistent pattern of brain MRI imaging in primary complex I deficiency. Complex I deficiency, a major cause of respiratory chain dysfunction, accounts for various clinical presentations, including Leigh syndrome. Human complex I comprises seven core subunits encoded by mitochondrial DNA (mtDNA) and 38 core subunits encoded by nuclear DNA (nDNA). Moreover, its assembly requires six known and many unknown assembly factors. To date, no correlation between genotypes and brain MRI phenotypes has been found in complex I deficiencies. DESIGN AND SUBJECTS: The brain MRIs of 30 patients carrying known mutation(s) in genes involved in complex I were retrospectively collected and compared with the brain MRIs of 11 patients carrying known mutations in genes involved in the pyruvate dehydrogenase (PDH) complex as well as 10 patients with MT-TL1 mutations. RESULTS: All complex I deficient patients showed bilateral brainstem lesions (30/30) and 77% (23/30) showed anomalies of the putamen. Supratentorial stroke-like lesions were only observed in complex I deficient patients carrying mtDNA mutations (8/19) and necrotising leucoencephalopathy in patients with nDNA mutations (4/5). Conversely, the isolated stroke-like images observed in patients with MT-TL1 mutations, or the corpus callosum malformations observed in PDH deficient patients, were never observed in complex I deficient patients. CONCLUSION: A common pattern of brain MRI imaging was identified with abnormal signal intensities in brainstem and subtentorial nuclei with lactate peak as a clue of complex I deficiency. Combining clinico-biochemical data with brain imaging may therefore help orient genetic studies in complex I deficiency.

Primary aneurysmal bone cysts in children: percutaneous sclerotherapy with absolute alcohol and proposal of a vascular classification.

BACKGROUND: Percutaneous sclerotherapy is an effective treatment for aneurysmal bone cysts (ABCs). OBJECTIVE: The purpose of this study was to demonstrate the safety and efficacy of sclerotherapy with absolute alcohol and to propose a vascular classification of ABCs based on a retrospective review. MATERIALS AND METHODS: This was a review of children treated with absolute alcohol sclerotherapy for ABC at a single institution from January 1995 until November 2009. Treatment response was evaluated radiographically and clinically. Cyst fluid was classified as clear, partially bloody, or bloody. Presence of any venous drainage of the cyst was assessed by injection of contrast medium into the cyst cavity. RESULTS: Twenty-nine children with ages ranging from 2 to 16 years were included. Treatment response was good in 17 (59%), partial in 9 (31%), and poor in 3 (10%) children. Venous drainage was absent in six out of seven clear-fluid cysts, which we classified as lymphatic. Drainage was present in all seven bloody-fluid cysts, which we classified as venous. In seven partially bloody-fluid cysts, venous drainage was seen in three. CONCLUSION: Sclerotherapy with absolute alcohol is a safe and effective treatment of ABC. We propose classifying ABC as lymphatic or venous and suggest considering ABC intraosseous slow-flow vascular malformations.

Social cognition and the superior temporal sulcus: implications in autism.

The most common clinical sign of autism spectrum disorders (ASD) is social interaction impairment, which is associated with communication deficits and stereotyped behaviors. Based on brain-imaging results, our hypothesis is that abnormalities in the superior temporal sulcus (STS) are highly implicated in ASD. These abnormalities are characterized by decreased grey matter concentration, rest hypoperfusion and abnormal activation during social tasks. STS anatomofunctional anomalies occurring early across brain development could constitute the first step in the cascade of neural dysfunctions underlying autism. It is known that STS is highly implicated on social perception processing, from perception of biological movements, such as body movements or eye gaze, to more complex social cognition processes. Among the impairments that can be described in social perception processing, eye gaze perception is particularly relevant in autism. Gaze abnormalities can now be objectively measured using eye-tracking methodology. In the present work, we will review recent data on STS contributions to normal social cognition and its implication in autism, with particular focus on eye gaze perception.

Spectrum of Neuroradiologic Findings Associated with Monogenic Interferonopathies.

The genetic interferonopathies are a heterogeneous group of disorders thought to be caused by the dysregulated expression of interferons and are now commonly considered in the differential diagnosis of children presenting with recurrent or persistent inflammatory phenotypes. With emerging therapeutic options, recognition of these disorders is increasingly important, and neuroimaging plays a vital role. In this article, we discuss the wide spectrum of neuroradiologic features associated with monogenic interferonopathies by reviewing the literature and illustrate these with cases from our institutions. These cases include intracerebral calcifications, white matter T2 hyperintensities, deep WM cysts, cerebral atrophy, large cerebral artery disease, bilateral striatal necrosis, and masslike lesions. A better understanding of the breadth of the neuroimaging phenotypes in conjunction with clinical and laboratory findings will enable earlier diagnosis and direct therapeutic strategies.