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Background and Purpose: Biallelic constitutional mutations in DNA mismatch repair genes cause a distinct syndrome, constitutional mismatch repair deficiency syndrome (CMMRD), characterized by cancers from multiple organs, most commonly brain tumors, during childhood. Surveillance protocols include total and brain MR imaging among other modalities to enable early detection of tumors. Brain surveillance scans revealed prominent brain developmental venous anomalies (DVAs) in some patients. DVAs are benign vascular anomalies, and their incidence in the general population is 2.6%-6.4%. Most developmental venous anomalies are asymptomatic and are found incidentally. Our purpose was to assess the prevalence of DVAs in CMMRD patients and describe their phenotype., Materials and Methods: A retrospective descriptive analysis of brain MR imaging studies from 10 patients from 3 families with CMMRD was performed. Analysis included the number of developmental venous anomalies, location, draining vessels, and associated vascular anomalies (ie, cavernomas), with clinical correlation of symptoms and tumors., Results: All 10 patients had ≥2 developmental venous anomalies, and 2 had, in addition, non-therapy-induced cavernomas. There was no clinically symptomatic intracranial bleeding from developmental venous anomalies. Six patients had malignant brain tumors. The location of brain tumors was not adjacent to the developmental venous anomalies. No new developmental venous anomalies developed during follow-up., Conclusions: The occurrence of multiple developmental venous anomalies in all our patients with CMMRD suggests that developmental venous anomalies may be a characteristic of this syndrome that has not been previously described. If confirmed, this quantifiable feature can be added to the current scoring system and could result in early implementation of genetic testing and surveillance protocols, which can be life-saving for these patients., (© 2018 by American Journal of Neuroradiology.)

Introduction: Shunt series (SS) are a common diagnostic tool used to verify shunt integrity. SS include X-ray films of the skull, chest, and abdomen and often are performed either when a shunted patient presents with suspected shunt malfunction or as a screening test to identify shunt disconnections or dislodgment. EOS low-dose biplanar X-rays are associated with significantly reduced radiation doses compared with ordinary X-rays and are used for various indications. This is the first publication on the use of EOS as a SS technique., Methods: Over a period of 6 months, EOS were performed at our center for various orthopedic indications, mostly for scoliosis evaluation. Nine children (<20 years of age) had a ventriculoperitoneal shunt and served as the study group. We retrospectively reviewed shunt visibility and integrity in the EOS scans as well as regular SS or plain spinal X-rays., Results: Three patients had bilateral shunts, and 8 had previous X-rays for comparison. In all patients, the shunt integrity was easily demonstrated on the EOS images. Two patients had an identified shunt disconnection confirmed on the EOS images. No shunt-related information was missed on the EOS compared with the other X-ray images., Conclusions: These preliminary results suggest that EOS may be used as an alternative technology to demonstrate shunt integrity instead of regular X-ray SS. Favorable shunt visibility without the need for multiple radiation exposures and image processing (such as stitching) results in a significantly shorter examination time and significant less radiation., (Copyright © 2018 Elsevier Inc. All rights reserved.)

Background: Accurate fetal brain volume estimation is of paramount importance in evaluating fetal development. The aim of this study was to develop an automatic method for fetal brain segmentation from magnetic resonance imaging (MRI) data, and to create for the first time a normal volumetric growth chart based on a large cohort., Subjects and Methods: A semi-automatic segmentation method based on Seeded Region Growing algorithm was developed and applied to MRI data of 199 typically developed fetuses between 18 and 37 weeks' gestation. The accuracy of the algorithm was tested against a sub-cohort of ground truth manual segmentations. A quadratic regression analysis was used to create normal growth charts. The sensitivity of the method to identify developmental disorders was demonstrated on 9 fetuses with intrauterine growth restriction (IUGR)., Results: The developed method showed high correlation with manual segmentation (r2 = 0.9183, p < 0.001) as well as mean volume and volume overlap differences of 4.77 and 18.13%, respectively. New reference data on 199 normal fetuses were created, and all 9 IUGR fetuses were at or below the third percentile of the normal growth chart., Discussion: The proposed method is fast, accurate, reproducible, user independent, applicable with retrospective data, and is suggested for use in routine clinical practice., (© 2017 S. Karger AG, Basel.)

Objective: To describe the prenatal imaging features enabling diagnosis of developmental venous anomalies (DVA)., Methods: Four fetuses with unexplained persistent echogenic parenchymal brain lesions were studied. The evaluation included dedicated neurosonography, fetal MRI, serology for intrauterine infection, screening for coagulation abnormalities, and chromosomal microarray. Postnatal neurodevelopmental follow-up or autopsy results were assessed., Results: DVA presented as very slowly growing echogenic brain lesions without cystic components, calcifications, or structural changes on otherwise normal neurosonographic scans performed at 2- to 3-week intervals. A specific Doppler feature was a collecting vein draining the echogenic parenchyma. Fetal brain MRI depicted normal anatomy on half-Fourier acquisition single-shot turbo spin-echo and diffusion-weighted imaging. The rest of the evaluation was normal., Conclusions: In cases with a persistent, parenchymal echogenic lesion without clastic or structural changes, DVA should be considered. Demonstration of a collecting vein draining the lesion and normal brain anatomy on MRI confirm the diagnosis., (© 2017 S. Karger AG, Basel.)

OBJECTIVE Isolated optic nerve gliomas (IONGs) constitute a rare subgroup of optic pathway gliomas (OPGs). Due to the rarity of this condition and the difficulty in differentiating IONGs from other types of OPGs in most clinical series, little is known about these tumors. Currently, due to lack of evidence, they are managed the same as any other OPG. METHODS The authors conducted a multicenter retrospective cohort study aimed at determining the natural history of IONGs. Included were patients with clear-cut glioma of the optic nerve without posterior (chiasmatic/hypothalamic) involvement. At least 1 year of follow-up, 2 MRI studies, and 2 neuro-ophthalmological examinations were required for inclusion. RESULTS Thirty-six patients with 39 tumors were included in this study. Age at diagnosis ranged between 6 months and 16 years (average 6 years). The mean follow-up time was 5.6 years. Twenty-five patients had neurofibromatosis Type 1. During the follow-up period, 59% of the tumors progressed, 23% remained stable, and 18% (all with neurofibromatosis Type 1) displayed some degree of spontaneous regression. Fifty-one percent of the patients presented with visual decline, of whom 90% experienced further deterioration. Nine patients were treated with chemotherapy, 5 of whom improved visually. Ten patients underwent operation, and no local or distal recurrence was noted. CONCLUSIONS Isolated optic nerve gliomas are highly dynamic tumors. Radiological progression and visual deterioration occur in greater percentages than in the general population of patients with OPGs. Response to chemotherapy may be better in this group, and its use should be considered early in the course of the disease.

Objective: To analyze ultrasound (US) and magnetic resonance imaging (MRI) results and developmental outcome in cases of maternal primary cytomegalovirus (CMV) infection during pregnancy., Methods: We retrospectively reviewed the results of fetal neurosonography and brain MRI of CMV-infected fetuses (Group 1). Cases of maternal infection in which the fetal status was unknown, and subsequently had a negative CMV postnatal urine analysis, were independently analyzed (Group 2). Imaging results were classified as follows: positive, negative, or inconclusive. Developmental landmarks were followed up., Results: Eighty-one women were included in the study: 48 (59.2%) in Group 1 and 33 (40.8%) in Group 2. In Group 1, termination of pregnancy was performed in 8 cases (16.7%) following the diagnosis of brain abnormalities. Among the remaining cases, concordance rate between US and MRI was 78%. False negative rates for US and MRI were 5.5% and 6.4%, respectively (hearing deficits). For MRI, we found 17.5% of false positive/inconclusive results, while for the US, we found 5% of inconclusive results. In Group 2, false positive rates for US and MRI were 6.5% and 12.9%, respectively., Conclusions: Adding MRI in CMV-infected cases with a normal neurosonographic follow-up should be weighed against a nonnegligible rate of false positive and inconclusive findings., (© 2017 John Wiley & Sons, Ltd.)

Objective: To assess the association between dorsal midline skin discolorations, tethering of the spinal cord, and the role of ultrasound screening of these stigmata, focusing specifically on vascular lesions., Study Design: We conducted a prospective observational study of infants <6 months of age with suspicious dorsal midline skin stigmata. All were evaluated by physical examination and ultrasound scan. A subset also had a magnetic resonance imaging examination. We examined the association between small, red-shaded discolorations and their respective imaging findings., Results: Among 100 cases with discolorations of vascular types, either isolated or combined with low-risk simple dimples or deviated gluteal folds, none had clinically significant pathologic findings requiring surgical intervention., Conclusions: Midline lumbar discolorations are more benign than previously thought. Despite the very low association of this group of stigmata with surgical implications, we still recommend the routine use of ultrasound scanning., (Published by Elsevier Inc.)

Background and Purpose: Neurofibromatosis type 1 is a common tumor predisposition syndrome. The aim of this study was to characterize the radiologic presentation of patients with neurofibromatosis type 1 with widespread spinal disease and to correlate it to clinical presentation and outcome., Materials and Methods: We conducted a historical cohort study of adult patients with neurofibromatosis type 1 with spinal involvement. Longitudinal clinical evaluation included pain and neurologic deficits. Radiologically, spinal involvement was classified according to a novel classification system, and a radiologic risk score was calculated., Results: Two hundred fifty-seven adult patients with neurofibromatosis type 1 are followed in our center. Thirty-four of these patients qualified for inclusion in this study. Three independent factors were found to be associated with increased risk for neurologic deficit: 1) bilateral tumors at the same level in the cervical region that approximated each other, 2) paraspinal tumors at the lumbar region, and 3) intradural lesions. On the basis of these factors, we calculated a combined risk score for neurologic deficits for each patient. We found a clear correlation between patient status and the calculated radiologic risk score. Patients with neurologic deficits were found to have a higher risk score (9 ± 8.3) than patients without neurologic deficits (2.5 ± 2.9, P < .05). Patients who progressed during the follow-up period had significantly higher scores at presentation than patients with stable conditions (9.9 ± 8.73 versus 3.9 ± 5.3, respectively; P < .05)., Conclusions: In this series, neurologic deficit is correlated with tumor burden and subtype. We found no direct correlation with tumor burden and pain. Our novel radiologic classification scoring system may be used to predict increased risk for neurologic morbidity., (© 2017 by American Journal of Neuroradiology.)

This study proposes a method for territorial segmentation and volumetric flow rate (VFR) distribution measurement of cerebral territories based on time-resolved contrast enhanced magnetic-resonance-angiography (MRA). The method uses an iterative region-growing algorithm based on bolus-arrival-time with increased temporal resolution. Eight territories were segmented: (1) right and (2) left internal carotid arteries, including the middle cerebral artery (ICA+MCA), excluding the anterior cerebral arteries (ACA); (3) right and left ACA (R+L-ACA); (4) right and (5) left external carotid arteries (ECA); (6) right and (7) left posterior cerebral arteries (PCA); and (8) vertebrobasilar territory. VFR percentage, relative to the entire brain (rVFR), was measured based on territorial volume as a function of time. Mean rVFR values of fifteen healthy subjects were: ICA+MCA = 23 ± 2%, R + L-ACA = 17 ± 3%, ECA = 4 ± 2%, PCA = 12 ± 2%, and vertebrobasilar territory = 31 ± 4%. Excluding the ECA-rVFR, which is underestimated, these values are comparable to previously reported values. Six subjects were scanned twice, demonstrating comparable and even higher reproducibility than previously reported using phase-contrast, yet with faster scan time (∼1 min). This method was implemented in one patient with MCA occlusion and one with Moyamoya syndrome scanned before and after bypass surgery, demonstrating its clinical potential for quantitative assessment of the degree of occlusion and the effect of surgery.

Introduction: We report the rare finding of recurrent periventricular pseudocysts (PVPC) in consecutive pregnancies in 4 families and their postnatal outcome., Materials and Methods: We reviewed the databases of 3 large ultrasound units searching for the diagnosis of PVPC in 2 pregnancies of the same patient., Results: The first case of recurrent PVPC was diagnosed in 2011 and since then 3 additional families were diagnosed (8 cases of PVPC all in all). All fetuses underwent fetal MRI that confirmed the presence of frontal or frontocaudal PVPC. Amniocentesis, when performed, demonstrated a normal karyotype. Termination of pregnancy was carried out in 2 pregnancies in 2 of 4 families. The remaining 6 pregnancies ended with a term delivery, and to date all babies are developing normally., Conclusion: The rare finding of recurrent brain PVPC in consecutive pregnancies raises the possibility of a hereditary etiology as opposed to a sporadic event. As in isolated PVPC, frontocaudal 'familial PVPC' appears to carry a favorable prognosis., (© 2016 S. Karger AG, Basel.)

Knowledge regarding the association between functional connectivity and white-matter (WM) maturation of motor and visual networks in preterm infants at term equivalent age (TEA) and their association with behavioral outcome is currently limited. Thirty-two preterm infants born <34 weeks gestational-age without major brain abnormalities were included in this study, underwent resting-state fMRI at TEA. Thirteen infants also underwent diffusion tensor imaging (DTI). Neurobehavioral assessments were performed at one and two years corrected age using the Griffiths Mental Developmental Scales. Functional connectivity between homolog motor and visual regions were detected, which may reflect that a level of organization in these domains is present already at TEA. DTI parameters of WM tracts at TEA demonstrated spatial-temporal variability, with the splenium of the corpus-callosum (CC) found to be the most mature fiber bundle. Correlations between DTI parameters, functional connectivity and behavioral outcome were detected, yet did not show the same pattern of diffusivity changes in the different networks. Visual functional connectivity was negatively correlated with radial-diffusivity (RD) in the optic radiation, while motor functional connectivity was positively correlated with RD in the splenium. In addition, axial-diffusivity (AD) and RD in the genu and midbody of the CC were positively correlated with neurobehavioral outcome at one and 2 years of age. This study highlights the importance of understanding the spatial-temporal changes occurring during this sensitive period of development and the potential effect of extrauterine exposure on the microstructural changes as measured by DTI; their correlation with functional connectivity; and their long term relationship with neuro-behavioral development., (Copyright © 2016 Elsevier B.V. All rights reserved.)

Objective: To construct a reference range for a new vertical measurement of the fetal head and to assess whether its combination with fetal head circumference (HC) can prevent the misdiagnosis of microcephaly in fetuses with an acrocephalic-like head deformation., Methods: A new vertical cranial biometric measurement was defined: the foramen magnum-to-cranium distance (FCD), measured between the foramen magnum and the upper inner cranial border along the posterior wall of the brainstem. The measurement was performed in a precise mid-sagittal plane using a three-dimensional multiplanar display of a sagittally acquired sonographic volume of the fetal head. The normal reference range was developed by measuring 396 healthy fetuses of low-risk singleton pregnancies between 15 and 40 gestational weeks. This reference was applied to 25 fetuses with microcephaly diagnosed prenatally (Fmic) based on HC ≥ 3 SD below the mean for gestational age. We determined an optimal FCD cut-off for combination with HC to detect all cases found with microcephaly at birth (micB), while excluding the fetuses with normal head circumference at birth (NHCB), who were described postnatally as having an acrocephalic-like cranial deformation., Results: In the healthy singleton fetuses, FCD increased with gestational age, with a quadratic equation providing an optimal fit to the data (adjusted R(2) = 0.934). The measurement could be assessed in 95.2% of cases. Of the 25 cases diagnosed with Fmic prenatally, on the basis of HC alone, 14 were micB and 11 were NHCB. We observed FCD below the mean - 2SD for gestational age in all 14 micB cases, but in only four of the 11 NHCB cases (P < 0.003). An acrocephalic-like cranial deformation was described at birth in five of the seven NHCB cases with normal FCD. The mean ± SD FCD Z-score of the micB cases was significantly lower (P < 0.001) than that of the false-positive ones: -3.85 ± 0.96 SD and -1.59 ± 1.45 SD, respectively. Based on HC measurement alone, the positive predictive value (PPV) was 56%. Combination of the HC and FCD criteria raised the PPV to 78%, decreasing the number of false positives from 11 to four, without missing any of the 14 micB cases., Conclusions: Fetal vertical cranial biometric assessment in the mid-sagittal plane is feasible and correlates well with gestational age. In our series, a vertical cranial deformation was a frequent cause of a false Fmic diagnosis made on the basis of HC alone. Combination of the new vertical cranial biometric measurement with HC measurement can exclude these cases and thus improve diagnostic accuracy for Fmic. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd., (Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd.)

Background: Periventricular white matter (WM) hyperechoic flares that do not evolve into cystic lesion(s) are frequently encountered on cranial ultrasonography (CUS) of preterm infants. Subjective interpretation of its presence, however, is challenging and its association with maturation and neurodevelopment remains undefined., Objectives: To determine the relationship between quantitative WM echogenicity and postnatal and postmenstrual ages and the relationship between quantitative WM echogenicity and neuromotor development at term equivalent., Methods: We measured the mean pixel brightness intensity at the frontoparietal and parieto-occipital WM, choroid plexus and calvarium bone on sequential neonatal CUS scans of preterm infants born at <34 weeks gestation. The relative echogenicity (RE) was derived by dividing the mean WM echogenicity to that of the choroid plexus (RE(CP)) or bone (RE(BN)). The Lacey Assessment of the Preterm Infant was administered before discharge., Results: 58 preterm infants (the mean gestational age 30.6±2.3 weeks and the mean birth weight 1211.9±224.7 g) were included. The RE(CP) of the frontoparietal WM decreased significantly with advancing postnatal and postmenstrual ages (r=-0.4, p<0.0001). The RE(BN) values of the frontoparietal and parieto-occipital WM during intermediate and late predischarge CUS studies, respectively, were significantly associated with neuromotor status at term (p<0.05). The RE(CP) and RE(BN) measured during the first week of life were not associated with neuromotor status at term., Conclusions: Quantitative measurements of the periventricular WM echogenicity are feasible in neonatal CUSs of premature infants and may reflect microstructural developmental changes. An optimal echogenicity quantification technique and its correlation with long-term outcome remain to be determined., (Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/)

Objective: To evaluate the prediction of microcephaly at birth (micB) using established and two new reference ranges for fetal head circumference (HC) and to assess whether integrating additional parameters can improve prediction., Methods: Microcephaly in utero was defined as a fetal HC 3SD below the mean for gestational age according to Jeanty et al.'s reference range. The records of cases with fetal microcephaly (Fmic) were evaluated for medical history, imaging findings, biometry and postnatal examination/autopsy findings. Microcephaly was confirmed at birth (micB) by an occipitofrontal circumference (OFC) or a brain weight at autopsy 2SD below the mean for gestational age. The new INTERGROWTH-21(st) Project and a recent Israeli reference for fetal growth were applied for evaluation of the Fmic positive predictive value (PPV) for diagnosis of micB cases. Optimal HC cut-offs were determined for each of the new references with the aim of detecting all micB cases whilst minimizing the number of false positives found to have a normal HC at birth. We also assessed the difference between the Z-scores of the prenatal HC and the corresponding OFC at birth, the frequency of small-for-gestational age (SGA), decreased HC/abdominal circumference (AC) and HC/femur length (FL) ratios, the prevalence of associated malformations and family history., Results: Forty-two fetuses were diagnosed as having Fmic according to the Jeanty reference, but micB was confirmed in only 24 (PPV, 57.1%). The optimal INTERGROWTH and Israeli reference HC cut-offs for micB diagnosis were mean - 3SD and mean - 2.3SD, resulting in a statistically non-significant improvement in PPV to 61.5% and 66.7%, respectively. The presence of a family history of microcephaly, SGA, associated malformations and application of stricter HC cut-offs resulted in a higher PPV of micB, although not statistically significant and with a concurrent increase in the number of false-negative results. The deviation of the HC from the mean, by all references, was significantly larger compared with the actual deviation of the OFC at birth, with mean differences between the corresponding Z-scores of -1.15, -1.95 and -0.74 for the Jeanty, INTERGROWTH and Israeli references, respectively., Conclusions: The evaluated reference ranges all result in considerable over-diagnosis of fetal microcephaly. The use of the two new HC reference ranges did not significantly improve micB prediction compared with that of Jeanty et al., whilst use of additional characteristics and stricter HC cut-offs could improve the PPV with an increase in false negatives. The postnatal OFC deviates significantly less from the mean compared with the prenatal HC, and we propose that adjustment for this would enable better prediction of the actual OFC deviation at birth. Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd., (Copyright © 2015 ISUOG. Published by John Wiley & Sons Ltd.)

Agenesis of the corpus callosum is currently diagnosed prenatally with ultrasound and MRI. While the diagnostic aspects of callosal defects are widely addressed, anatomo-histological data from fetal autopsies are sparse. Callosal defects were present in 50 fetal autopsies. Four distinct groups of complete, partial, hypoplastic, and mixed defects were determined by the gross and histologic details of the corpus callosum. These details helped to rule out other midline defects such as holoprosencephaly. Additional autopsy findings enabled specific diagnoses and suggested etiopathogeneses. Hypoplastic and mixed defects were associated with more abnormalities of the cerebral hemispheres and internal organs. The four groups did not differ according to gender, external dysmorphism, or cerebellar and brainstem anomalies. Defects were classified as syndromic (68 %), encephaloclastic (8 %), undetermined (14 %), or isolated (10 %) based on the autopsy findings. Isolated agenesis of the corpus callosum was diagnosed in only 10 % of the cases in this series, compared to higher numbers diagnosed by prenatal ultrasonography and MRI. Therefore, the autopsy, through its detailed, careful evaluation of external, as well as gross and histological internal features, can elucidate the etiopathogenesis of agenesis of the corpus callosum and suggest specific diagnoses which cannot be ascertained by prenatal imaging.

OBJECT The object of this study was to use diffusion tensor imaging (DTI) to evaluate and characterize white matter changes in hydrocephalus. METHODS The authors performed a retrospective analysis of DTI in a cohort of patients with hydrocephalus (n = 35), 19 of whom had both pre- and postsurgical imaging studies. These patient's DTI values were compared with values extracted from age-dependent trend lines computed from a healthy subject group (n = 70, age span 14 months-14 years). Several DTI parameters in different regions of interest (ROIs) were evaluated to find the most sensitive parameters for clinical decision making in hydrocephalus. RESULTS Compared with healthy controls, patients with active hydrocephalus had a statistically significant change in all DTI parameters. The most sensitive and specific DTI parameter for predicting hydrocephalus was axial diffusivity (λ1) measured at the level of the corona radiata. Diffusion tensor imaging parameters correlated with several conventional radiological parameters in the assessment of hydrocephalus but were not superior to them. There was no convincing correlation between clinical disease severity and DTI parameters. When examining the pre- and postsurgical effect, it was found that DTI may be a sensitive tool for estimating tissue improvement. CONCLUSIONS This large-cohort study with a multidisciplinary approach combining clinical, neurological, radiological, and multiple DTI parameters revealed the most sensitive DTI parameters for identifying hydrocephalus and suggested that they may serve as an important tool for the disorder's quantitative radiological assessment.

Background: Optic pathway gliomas (OPG) represent 5% of pediatric brain tumors and compose a major therapeutic dilemma to the treating physicians. While chemotherapy is widely used for these tumors, our ability to predict radiological response is still lacking. In this study, we use volumetric imaging to examine in detail the long-term effect of chemotherapy on the tumor as well as its various sub-components., Procedure: The tumors of 15 patients with OPG, treated with chemotherapy, were longitudinally measured using our novel, previously described volumetric method. Patients were treated with up to five lines of chemotherapy. Sufficient follow-up imaging data, and patient's numbers, allowed for analysis of two treatment lines. Volumetric measurements of the tumors were segmented into solid-non-enhancing, solid-enhancing, and cystic components. Outcome analysis was done per specific treatment line and for the overall follow-up period., Results: An average reduction of 9.7% (±23%) in the gross-total-solid volume (GTSV) was noted following treatment with vincristine and carboplatin. The cystic component grew under therapy by an average of 12.6% (±39%). When measured over the course of the whole study period, the cystic component grew by an average of 35% (±100%) and the GTSV increased by 12% (±35%)., Conclusion: Initial treatment with vincristine and carboplatin seems to have a minimal initial effect, mostly on the solid components. The cystic component in itself seems to be unaffected by chemotherapy, and contributes to the subsequent growth of the total volume. During the overall treatment period, both solid and cystic components grew regardless of combined treatment methods., (© 2015 Wiley Periodicals, Inc.)

Background: Existing volumetric measurements of plexiform neurofibromas (PNs) are time consuming and error prone, as they require delineation of PN boundaries, a procedure that is not practical in the typical clinical setting. The aim of this study is to assess the Plexiform Neurofibroma Instant Segmentation Tool (PNist), a novel semi-automated segmentation program that we developed for PN delineation in a clinical context. PNist was designed to greatly simplify volumetric assessment of PNs through use of an intuitive user interface while providing objectively consistent results with minimal interobserver and intraobserver variabilities in reasonable time., Materials and Methods: PNs were measured in 30 magnetic resonance imaging (MRI) scans from 12 patients with neurofibromatosis 1. Volumetric measurements were performed using PNist and compared to a standard semi-automated volumetric method (Analyze 9.0)., Results: High correlation was detected between PNist and the semi-automated method (R(2) = 0.996), with a mean volume overlap error of 9.54 % and low intraobserver and interobserver variabilities. The segmentation time required for PNist was 60 % of the time required for Analyze 9.0 (360 versus 900 s, respectively). PNist was also reliable when assessing changes in tumor size over time, compared to the existing commercial method., Conclusions: Our study suggests that the new PNist method is accurate, intuitive, and less time consuming for PN segmentation compared to existing commercial volumetric methods. The workflow is simple and user-friendly, making it an important clinical tool to be used by radiologists, neurologists and neurosurgeons on a daily basis, helping them deal with the complex task of evaluating PN burden and progression.

Purpose: Achondroplasia is the most common form of dwarfism. Respiratory failure is responsible for most deaths among these children and is often related to cervicomedullary compression (CMC). We present our experience with early cervicomedullary decompression in infants with achondroplasia., Methods: Data was retrospectively collected for infants with achondroplasia who underwent CMC decompression between 1998 and 2013. Data included presurgical and postsurgical neurological examinations, MRI scans, and sleep study results., Results: Ten infants were included. Ages at surgery were 4 to 23 months (12.5 ± 6.88 months). All infants displayed neurological findings prior to surgery, although often subtle. All infants underwent a foramen magnum opening with a wide C1 laminectomy. Following surgery, seven patients (70 %) demonstrated improved neurological status, and one displayed neurological deterioration. Seven patients demonstrated improved sleep quality 1 year after surgery. These patients had a good or improved neurological status following surgery. Preoperative radiological findings included abnormal hyperintense T2 changes in all children (improved following surgery in six children), brainstem distortion in four children (improved in all), and diminished cerebrospinal fluid (CSF) spaces at the level of the foramen magnum in eight children (improved in seven). One child with extensive preoperative T2 changes accompanied by neurological and respiratory decline, deteriorated following surgery, and remains chronically ventilated., Conclusions: Infants with achondroplasia are prone to neurological and respiratory symptoms. We believe that early diagnosis and early surgery for decompression of the foramen magnum and C1 lamina can alleviate respiratory symptoms, improve neurological status, and perhaps prevent sudden infant death in this population.

Introduction: Infantile hemangiomas are the most common benign tumors in children. However, cranial involvement of such lesions is rare. Current treatment options for hemangiomas in various locations that would be endangering or disfiguring include follow-up, surgical removal, or administration of corticosteroids, interferon-α, thalidomide, vincristine, propranolol, and laser therapy., Methods: We describe an infant who presented with an extensive cranial hemangioma (proven by a biopsy). The child was treated with propranolol., Results: Clinical and radiological follow-up for over a year showed significant reduction in tumor size without adverse clinical symptoms., Conclusion: Propranolol is a valid treatment for large cranial hemangiomas, avoiding the risks involved in surgeries.

Optic pathway gliomas (OPGs) are among the most challenging neoplasms in modern pediatric neuro-oncology. Recent technological advances in imaging, surgery, and chemotherapy may lead to better understanding of the pathophysiology and better clinical results. This chapter reviews these advances and the current treatment paradigms.

The neonatal period is considered to be essential for neurodevelopment and wellbeing throughout the life span, yet little is known about brain-behavior relationships in the neonatal period. The aim of this study was to evaluate the association between neonatal sensory-motor regulation and white-matter (WM) integrity of major fiber tracts in the neonatal period. We hypothesized that WM integrity of sensory-motor systems would predict neurobehavioral maturation during the first month of life. Forty-nine premature neonates underwent magnetic-resonance-imaging at term. Diffusion-tensor-imaging analysis was performed in major WM tracts along with repeated neonatal neurobehavioral evaluations assessing sensory reactivity and motor regulation. Difficulties in one or more behavioral sub-category, mostly in auditory and visual attention, hypotonicity and jitteriness, were documented in 78.3% infants at term. Sixty-six percent of infants experienced difficulties, mostly in auditory attention, head-neck control, hypotonicity and motor asymmetry, at 44 weeks. Attention difficulties were associated with reduced integrity of cerebral and superior cerebellar peduncles; while tonicity was associated with reduced integrity of the corpus-callosum and inferior-posterior tracts. Overall, results showed that early maturing tracts were related with the degree of typicality of sensory reactivity status while late maturing tracts were related with the degree of typicality of tonic regulation. WM integrity and maturation factors explained 40.2% of the variance in neurobehavior at 44 weeks. This study suggests that in preterm neonates, deviant sensory-motor reactivity can be detected very early in development in manners that are related to lower integrity/maturational level of early and late maturing fiber tracts., (Copyright © 2014 The Authors. Published by Elsevier Ltd.. All rights reserved.)

Introduction: The outcome of premature infants with only diffuse excessive high signal intensity (DEHSI) is not clear. We explored the relationship between DEHSI, white matter (WM) diffusion characteristics, perinatal characteristics, and neurobehavioral outcome at 1 year in a homogenous group of preterm infants without major brain abnormalities., Methods: Fifty-eight preterm infants, gestational age 29 ± 2.6 weeks, underwent an MRI at term-equivalent age (TEA). Griffiths Mental Developmental Scales, neurological assessment, and Parental Stress Index (PSI) were performed at 1 year corrected age. These measures were compared between preterm infants according to DEHSI classification (none, mild, moderate). Diffusion tensor imaging was used in major WM volumes of interest to objectively measure the degree of WM maturation., Results: No significant differences were detected in the perinatal risk characteristics, neurobehavioral outcome, and PSI at 1 year between infants with different DEHSI classifications. In infants with DEHSI, increased axial and radial diffusivities were detected in the optic radiations, centrum semiovale, and posterior limb of the internal capsule, indicating less advanced maturation of the WM. Significant correlations were detected between the time interval from birth to MRI and the WM microstructure in infants without DEHSI., Conclusion: DEHSI in premature infants is neither a predictive measure for short-term adverse neurobehavioral outcome nor related to perinatal risk characteristics. Extrauterine exposure time had a differential effect on WM maturational trajectories in infants with DEHSI compared to those without. We suggest DEHSI may represent an alteration in WM maturational characteristics. Further follow-up studies may verify later consequences of DEHSI in premature infants.

Introduction: There are many similarities, both clinical and radiological, between mitochondrial leukoencephalopathies and Alexander disease, an astrogliopathy. Clinically, both can manifest with a myriad of symptoms and signs, arising from the neonatal period to adulthood. Radiologically, both can demonstrate white matter changes, signal abnormalities of basal ganglia or thalami, brainstem abnormalities and contrast enhancement of white matter structures. Magnetic resonance spectroscopy may reveal elevation of lactate in the abnormal white matter in Alexander disease making the distinction even more challenging., Patient and Methods: We present a child who was considered to have an infantile onset mitochondrial disorder due to a combination of neurological symptoms and signs (developmental regression, failure to thrive, episodic deterioration, abnormal eye movements, pyramidal and cerebellar signs), urinary excretion of 3-methyl-glutaconic acid and imaging findings (extensive white matter changes and cerebellar atrophy) with a normal head circumference. Whole exome sequence analysis was performed., Results: The child was found to harbor the R416W mutation, one of the most prevalent mutations in the glial fibrillary acidic protein (GFAP) gene that causes Alexander disease., Conclusions: Alexander disease should be considered in the differential diagnosis of infantile leukoencephalopathy, even when no macrocephaly is present. Next generation sequencing is a useful aid in unraveling the molecular etiology of leukoencephalopathies., (Copyright © 2014 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.)

Purpose: Volumetric measurements of plexiform neurofibromas (PNs) are time consuming and error prone, as they require the delineation of the PN boundaries, which is mostly impractical in the daily clinical setup. Accurate volumetric measurements are seldom performed for these tumors mainly due to their great dispersion, size and multiple locations. This paper presents a semiautomatic method for segmentation of PN from STIR MRI scans., Methods: Plexiform neurofibroma interactive segmentation tool (PNist) is a new tool to segment PNs in STIR MRI scans. The method is based on histogram tumor models computed from a training set., Results: Experimental results from 28 datasets show an average absolute volume difference of 6.8 % with an average user time of approximately 7 min versus more than 13 min with manual delineation. In complex cases, the PNist user time is less than half in compared to state-of-the-art tools., Conclusions: PNist is a new method for the semiautomatic segmentation of PN lesions. Its simplicity and reliability make it unique among other state-of-the-art methods. It has the potential to become a clinical tool that allows the reliable evaluation of PN burden and progression.

Objective: To compare echogenicity detected using cranial ultrasound (cUS) and diffuse excessive high signal intensity (DEHSI) detected using magnetic resonance imaging (MRI) by identical region-based scoring criteria in preterm infants. To explore the association between these white matter (WM) signal changes with early neurobehavior., Study Design: Forty-nine pre-selected premature infants with only echogenicity on a first routine cUS1 underwent MRI and a repeated cUS2 at term equivalent age. Echogenicity and DEHSI were graded in various brain areas and diffusivity values were calculated. Neurobehavior was assessed using the Rapid Neonatal Neurobehavioral Assessment Procedure., Result: WM signal changes were significantly higher on cUS1 than cUS2; and higher in MRI than cUS2 in posterior regions. Infants with DEHSI demonstrated reduced tissue integrity. Imaging findings were not correlated with early neurobehavior., Conclusion: Echogenicity and DEHSI likely represent the same phenomenon. Reduction of over-interpretation of WM signal changes may help define criteria for the judicious use of imaging in routine follow-up of premature infants.

How do infants extract milk during breast-feeding? We have resolved a century-long scientific controversy, whether it is sucking of the milk by subatmospheric pressure or mouthing of the nipple-areola complex to induce a peristaltic-like extraction mechanism. Breast-feeding is a dynamic process, which requires coupling between periodic motions of the infant's jaws, undulation of the tongue, and the breast milk ejection reflex. The physical mechanisms executed by the infant have been intriguing topics. We used an objective and dynamic analysis of ultrasound (US) movie clips acquired during breast-feeding to explore the tongue dynamic characteristics. Then, we developed a new 3D biophysical model of the breast and lactiferous tubes that enables the mimicking of dynamic characteristics observed in US imaging during breast-feeding, and thereby, exploration of the biomechanical aspects of breast-feeding. We have shown, for the first time to our knowledge, that latch-on to draw the nipple-areola complex into the infant mouth, as well as milk extraction during breast-feeding, require development of time-varying subatmospheric pressures within the infant's oral cavity. Analysis of the US movies clearly demonstrated that tongue motility during breast-feeding was fairly periodic. The anterior tongue, which is wedged between the nipple-areola complex and the lower lips, moves as a rigid body with the cycling motion of the mandible, while the posterior section of the tongue undulates in a pattern similar to a propagating peristaltic wave, which is essential for swallowing.

Background: Optic pathway gliomas (OPGs) are considered relatively benign pediatric tumors. Adult patients with OPG can be divided into 2 groups: adult patients with tumors diagnosed in childhood and adult patients diagnosed during adulthood., Objective: To characterize the clinical course of adult patients with OPG., Methods: We retrospectively collected clinical and imaging data of all adult OPG patients monitored in our medical center between 1990 and 2012., Results: Twenty-two adult patients were included. Age at diagnosis varied widely (6 months-66 years), as did age at last follow-up (18-74 years). Ten patients were diagnosed at adulthood and 12 in childhood. Of the patients diagnosed at childhood, 6 had radiological progression during childhood, and 3 of those patients suffered visual impairment. From this group, 1 patient had further progression during adulthood accompanied by additional visual decline, and 2 patients had additional visual decline during adulthood despite no signs of progression. Of the 6 patients whose tumors were stable during childhood, all 6 remained stable during adulthood. Of 10 patients diagnosed at adulthood, 6 patients suffered visual deterioration; in 5 of them, a concomitant progression was noted. Two patients were diagnosed with high-grade gliomas., Conclusion: OPGs may be active during childhood or adulthood. Those patients who experienced anatomic activity during childhood are prone to continue experiencing active disease during adulthood. A significant percentage of patients diagnosed with low-grade OPG at adulthood may suffer progression, visual decline, or both., Abbreviations: NF1, neurofibromatosis 1OPG, optic pathway gliomas.

Overuse of broad-spectrum antimicrobials has resulted in bacterial resistance and increasing use of relatively expensive antibiotics for community-acquired pneumonia (CAP). We hypothesized that CAP requiring parenteral medication is still curable with narrow-spectrum and inexpensive penicillin G. A prospective, randomized study was performed on 58 children aged 3 months to 15 years with CAP. Children were randomly assigned to receive low-dose penicillin G, high penicillin G, or cefuroxime intravenously for 4-7 days. The course of illness was monitored clinically and with predetermined laboratory and radiological indices for 30 days. The children recovered at the same rate with no significant differences in time to defervescence or duration of hospitalization. Observed differences in leukocyte counts and C-reactive protein at discharge were of questionable clinical significance. Penicillin G is as effective and safe as cefuroxime for CAP in otherwise healthy children, even in moderate doses.

Molar tooth sign (MTS) is pathognomonic for Joubert syndrome (JS) and related disorders. We report a case in which MTS was suspected in an 'at risk' patient at 16 weeks' gestation by sonography and at 18 weeks by additional ultrasound. It was then confirmed at 20 weeks by MRI. A molecular diagnosis of JS was established after termination of the pregnancy. As genetic testing may not be feasible in JS, the ability to identify MTS sonographically as early as possible is important for affected families.

Introduction: Since intrauterine repair of open spinal dysraphism have demonstrated promising results, it has become crucial to accurately define the various prenatal pathologies. The embryogenesis of spinal dysraphism according to a clinical neuroradiological classification is reviewed, with special emphasis on the recent advances in prenatal ultrasound (US), such as high-frequency linear transducers and three-dimensional imaging., Fundings: The role of magnetic resonance imaging (MRI) of the fetus as a complementary tool for delineating complex fetal spinal anomalies and further defining associated central nervous system (CNS) anomalies is explored. Differentiation between normal appearance of the fetal spine and the wide range of congenital neural tube defects are demonstrated in both modalities with special emphasis on their complementary role in the accurate diagnosis of neural tube defects.

Background: Community-acquired pneumonia (CAP) is an important cause of acute respiratory disease in ambulatory care settings. The objective of this study was to assess the accuracy of medical history and physical examination in diagnosing CAP., Methods: Pediatric residents prospectively completed a questionnaire documenting patients' medical history and physical examination whenever a chest radiograph was ordered on patients 1 month to 16 years of age. Chest radiographs were read by a pediatric radiologist., Results: Of 525 children participating in the study, 181 (34%) demonstrated findings of pneumonia. Thirty-four (19%) had no symptoms other than fever, and 51 (28%) had normal lung auscultation. Pediatric residents had the same interpretation in 85% of cases in which radiographic CAP was diagnosed by the radiologist, and in 76% of cases in which radiographic pneumonia was excluded by the radiologist., Conclusions: Results demonstrate the significant added value of chest radiography as an ancillary test for diagnosis of pneumonia in the emergency department setting.

Background: The ventriculus terminalis (VT) is formed during early embryonic development of the spinal cord and can only be identified histologically in both children and adults. Cystic dilatation of the VT can be seen in young children, but it rarely persists through adulthood., Clinical Case: We describe a 27-year-old female with paraparesis secondary to a massive and tethered cystic dilatation of the VT mimicking syringomyelia. Symptoms appearing in early childhood were ignored, probably leading to the much prominent presentation in early adulthood. The preoperative presentation and surgical treatment are discussed in relation to childhood history., Conclusions: Although extremely rare, symptomatic dilatation of the VT can be seen in young adults, usually with previous manifestations in early childhood. This entity should be considered while treating tethered cord spectrum.

Objective: To delineate the impact of early (≤ 25 days of life) versus late (> 25 days) external ventricular drainage (EVD) on the neurodevelopmental outcome of preterm infants with posthemorrhagic hydrocephalus (PHH) following intraventricular hemorrhage (IVH)., Methods: We retrospectively categorized 32 premature infants with PHH into two groups according to whether they underwent early (n = 10) or late (n = 22) EVD. We administered the Battelle Developmental Inventory II and a neuromotor examination (median age, 73 months, range: 29-100)., Results: In adjusted comparisons, early EVD was associated with better scores than late EVD in adaptive (79 ± 22.6 vs. 58.8 ± 8.1, P = .01), personal social (90.7 ± 26 vs. 67.3 ± 15.9, P = .02), communication (95.4 ± 27.5 vs. 69.6 ± 20.5, P = .04) and cognitive (78.9 ± 24.4 vs. 60.7 ± 11.5, P = .055) functions. Three (30%) early EVD infants had severe (<2.5 standard deviation) cognitive disability compared to 18 (82%) late EVD infants (P = .03). The incidences of cerebral palsy and neurosurgical complications were equal for the two groups. Subgroup analyses suggested that early EVD was beneficial in infants with original grade III IVH (n = 15, P < 0.05), but that it had no beneficial effects in infants with prior parenchymal injury (n = 17, P = NS)., Conclusion: In this small retrospective series, early EVD is associated with lower rates of cognitive, communication and social disabilities than later EVD in infants with PHH without prior parenchymal injury. A randomized prospective trial is warranted., (Copyright © 2012 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.)

Cerebellar hypoplasia is the hallmark of a heterogeneous group of disorders that are caused by genetic and metabolic disorders. Prenatal identification of cerebellar hypoplasia and accurate prediction of outcome are challenging. Autosomal dominant nonprogressive cerebellar ataxia is a rare disorder that typically presents with early hypotonia and delayed motor milestones followed by the onset of mild ataxia and occasionally cognitive impairment. We present a case of a mother and her female fetus. Fetal sonography and magnetic resonance imaging (MRI) showed generalized cerebellar hypoplasia. The mother had mild learning difficulties and clinically showed minor features of cerebellar ataxia. Her MRI also demonstrated extreme cerebellar hypoplasia. The diagnosis of autosomal dominant nonprogressive cerebellar ataxia was suggested. This is the first report of prenatal diagnosis of autosomal dominant nonprogressive cerebellar ataxia. We recommend obtaining a family history, examining the parents, and when appropriate obtaining an MRI before counseling parents of a fetus with a brain malformation.

Plexiform neurofibromas (PNs) are a major manifestation of neurofibromatosis-1 (NF1), a common genetic disease involving the nervous system. Treatment decisions are mostly based on a gross assessment of changes in tumor using MRI. Accurate volumetric measurements are rarely performed in this kind of tumors mainly due to its great dispersion, size, and multiple locations. This paper presents a semi-automatic method for segmentation of PN from STIR MRI scans. The method starts with a user-based delineation of the tumor area in a single slice and automatically segments the PN lesions in the entire image based on the tumor connectivity. Experimental results on seven datasets, with lesion volumes in the range of 75-690 ml, yielded a mean absolute volume error of 10 % (after manual adjustment) as compared to manual segmentation by an expert radiologist. The mean computation and interaction time was 13 versus 63 min for manual annotation.

Purpose: Fourth ventricular outlet obstruction (FVOO) causes obstructive hydrocephalus. Often, despite high-quality MRI sequences, differentiation between FVOO and communicating (absorptive) hydrocephalus is not easy. We describe our initial experience with five children with suspected FVOO that underwent CT ventriculography (CTV) or cisternography (CTC), to assist with this difficult diagnosis., Methods: Over 2.5 years, five children with suspected FVOO (5 months-7.5 years old) underwent CTV or CTC. Technical and clinical data were retrospectively collected., Results: Four children had progressive macrocephaly, and one child had progressive ventriculomegaly. On CTV/CTC, four of five children showed communication between the ventricular system and spinal subarachnoid space or prepontine cistern, as evidenced by passage of contrast material. One child had a FVOO and therefore underwent an endoscopic third ventriculostomy, and is since, symptom and shunt free for 2.5 years., Conclusion: CT ventriculography in infants, and CT cisternography in elder children, may assist to differentiate between FVOO and communicating hydrocephalus. The importance of these tests is for children with MRI suggestive of FVOO related hydrocephalus, but with no clear demonstration of the obstruction site. The implication of this differentiation may be for deciding between treatment of hydrocephalus with a ventriculoperitoneal shunt or with an endoscopic third ventriculostomy.

Background and Purpose: IIH is a disorder associated with increased intracranial pressure with no clinical, laboratory, or radiologic evidence of an intracranial space-occupying lesion. The aim of this study was to establish ONSD standards of healthy pediatric subjects and compare the normal measurements with those of patients with IIH., Materials and Methods: One hundred fifteen MR imaging studies of children 4 months to 17 years of age were blinded and reviewed by a pediatric neuroradiologist. A total of 230 optic nerves were measured. Eighty-six MR imaging examinations were performed in apparently healthy subjects. This control group included subjects who underwent MR imaging for various reasons, and their MR imaging findings were interpreted as normal. Twenty-nine MR imaging examinations were performed in patients with documented IIH. The ONSD was measured 1 cm anterior to the optic foramina on an axial T2 sequence. For statistical analysis, both patients and controls were stratified into 4 age groups (I, 0-3 years; II, 3-6 years; III, 6-12 years; IV, 12-18 years)., Results: The mean ONSD of the control group in all age groups (I, 3.1 mm; II, 3.41 mm; III, 3.55 mm; IV, 3.56 mm) was significantly smaller than the mean ONSD of patients (I, 4.35 mm; II, 4.37 mm; III, 4.25 mm; IV, 4.69 mm). A positive correlation between age and ONSD (r = 0.414, P < .01) was found in the control group., Conclusions: According to our study, in pediatric patients with IIH, the ONSD is significantly larger than that in healthy controls regardless of age group and sex. This measurement might prove to be an auxiliary tool in the diagnosis of increased intracranial pressure in pediatric patients.

We present a new method for the estimation of the next brain MR scan in a longitudinal tumor follow-up study. Our method effectively incorporates information of the past scans in the time series to predict the future scan of the patient. Its advantages are that it requires no user intervention and does not assume any particular tumor growth model. Instead, the patient-specific tumor growth parameters are estimated individually from the past patient scans. To validate our method, we conducted an experimental study on four patients with Optic Path Gliomas (OPGs) and four patients with glioblastomas multiforma (GBM), each scanned at five time points. The tumor volumes in the predicted and actual future scans, both segmented by an expert radiologist, yield a mean volume overlap difference of 13.65% for the OPG patients, and 34.23% for the GBM patients.

This paper presents an automatic method for the segmentation, internal classification and follow-up of optic pathway gliomas (OPGs) from multi-sequence MRI datasets. Our method starts with the automatic localization of the OPG and its core with an anatomical atlas followed by a binary voxel classification with a probabilistic tissue model whose parameters are estimated from the MR images. The method effectively incorporates prior location, tissue characteristics, and intensity information for the delineation of the OPG boundaries in a consistent and repeatable manner. Internal classification of the segmented OPG volume is then obtained with a robust method that overcomes grey-level differences between learning and testing datasets. Experimental results on 25 datasets yield a mean surface distance error of 0.73 mm as compared to manual segmentation by experienced radiologists. Our method exhibits reliable performance in OPG growth follow-up MR studies, which are crucial for monitoring disease progression. To the best of our knowledge, this is the first method that addresses automatic segmentation, internal classification, and follow-up of OPG., (Copyright © 2011 Elsevier B.V. All rights reserved.)

Purpose: This study aimed to determine the justification for routine postoperative MRI (POMR) following surgical release of tethered cord (TC) given that an MR, in this situation, mostly serves as a baseline and rarely has immediate clinical implications. Furthermore, later in the course of the disease, the presence of retethering is mostly assessed by clinical parameters, rather than imaging., Methods: A single-center retrospective review of patients who underwent tethered cord release surgery between the years 1997 and 2009 at the Department of Pediatric Neurosurgery, Tel Aviv Medical Center, Israel was performed. Collected data including basis for diagnosis, pathology, associated clinical and radiologic findings, surgical procedure and outcome, postoperative follow-up and morbidities, and postoperative MRI findings were recorded and analyzed., Results: One hundred forty patients operated upon between 1997 and 2009 for tethered cord syndrome were reviewed. Routine postoperative MR was performed in all cases 6-18 months after surgery. All cases were fully untethered. MR revealed relevant information in eight cases, two with residual dermoid, and six with significant terminal syrinx. None of these findings led to repeat surgery or special treatment. Retethering operations were performed in two cases in which retethering was diagnosed based on clinical evaluation., Conclusions: Based on analysis of our series of 140 consecutive patients who all underwent POMR 6-18 months after TC release, we suggest that POMR as routine clinical practice is not justified for uncomplicated cases of TC release. In cases of high risk for retethering, or significant preoperative syrinx or dermoid, POMR is recommended to establish a baseline for future clinical follow-up.

We present a rare case of a diffuse anaplastic astrocytoma (gliomatosis configuration) in a child, which was misdiagnosed as pseudotumor cerebri following initially normal CT of the brain and elevated opening pressure on lumbar puncture with normal cerebrospinal composition.

Objectives: To describe the sonographic technique for assessment of the fetal optic nerve sheath and to report on three fetuses with intracranial lesions and enlarged optic nerve sheath diameter (ONSD) compared with normal controls matched for gestational age (GA)., Methods: In this cross-sectional study ONSD was measured sonographically in three fetuses (aged 23, 24 and 35 gestational weeks) with intracranial findings associated with increased intracranial pressure (ICP; dural thrombosis and intracranial tumors) as well as 42 healthy controls matched for GA ± 1 week (aged 22-25 and 34-36 weeks). For fetal eye assessment, transabdominal and transvaginal routes and high-resolution transducers were used for optimal visualization depending on fetal position. Measurements were made using an axial view at the level of the orbits, with the fetal face positioned towards the transducer. The ONSD was measured 1.5 or 2 mm behind the papilla (depending on GA) in all fetuses. Mean ± 2 SD ONSD of controls were calculated for each GA and compared with data from the three fetuses with intracranial pathology., Results: In the 42 normal fetuses, ONSD increased from 1.2 mm at 23 weeks to 2.6 mm at 36 weeks. The measurements at 36 weeks correlated well with those observed in newborns. ONSD measurements of the three cases were above mean + 2 SD of values obtained from healthy controls at the same GA and also exceeded values of fetuses that were 1 week older., Conclusions: Fetal ONSD measurement is feasible using a technique similar to that used in adults and children. ONSD enlargement was observed in all three fetuses with intracranial lesions and may be an early tool with which to diagnose increased ICP., (Copyright © 2011 ISUOG. Published by John Wiley & Sons, Ltd.)

Background: Optic pathway gliomas (OPG) are relatively indolent tumors that may occur sporadically or in association with neurofibromatosis 1. Treatment is initiated only when a clear clinical or radiological deterioration is documented. Chemotherapy is the standard first line of treatment. Due to the indolent nature of this tumor, the most important challenge in OPG treatment is vision preservation., Methods: In this study we determined the visual outcome of 19 patients with progressive OPGs who received chemotherapy and correlated it with imaging., Results: Mean neuro-ophthalmological follow-up is 4 years and 3 months. Indications for treatment were radiological tumor progression (6 patients), visual decline (6 patients), or both (7 patients). Fifteen patients (78%) had to change to 2nd line chemotherapy (7 due to allergies and 8 due to treatment failure). During the course of chemotherapy, 11 patients (57.8%) displayed radiological tumor progression, 4 (21.5%) demonstrated stable tumor, and 4 (21.5%) displayed tumor regression. During the follow-up period, 14 (73.6%) had an overall visual deterioration, 4 (21%) had stable vision, and 1 patient (5.2%) improved. Visual acuity was examined in 38 eyes. Seventeen eyes (47.2%) deteriorated, fourteen (38.8%) were stable, and five (13.8%) improved. Ten eyes (27.7%) deteriorated to legal blindness. There was no correlation between radiological tumor growth and visual deterioration., Conclusions: The majority of our patients, who received chemotherapy for progressive OPG, experienced a decline in their visual function. New, more effective treatments are needed in order to preserve vision in this group., (Copyright © 2011 Wiley-Liss, Inc.)

A known contributor to adults' superior memory performance compared to children is their differential reliance on an existing knowledge base. Compared to those of adults, children's semantic networks are less accessible and less established, a difference that is also thought to contribute to children's relative resistance to semantically related false alarms. Using the "congruency effect" - the memory advantage of congruity, we manipulated the encoded stimuli in the present experiment such that the use of the knowledge base at encoding was more - or less - accessible in both children and adults. While being scanned, 15 children (ages 8-11) and 18 young adults saw printed noun/color combinations and were asked to indicate whether each combination existed in nature. A subsequent recognition test was administered outside of the scanner. Behaviorally, although overall memory was higher in the adult group compared to the children, both age groups showed the congruency effect to the same extent. A comparison of the neural substrates supporting the congruency effect between adults and children revealed that whereas adults recruited regions primarily associated with semantic-conceptual processing (e.g., the left PFC and parietal and occipito-temporal cortices), children recruited regions earlier in the processing stream (e.g., the right occipital cortex). This evidence supports the hypothesis that early in development, episodic encoding depends more on perceptual systems, whereas top-down frontal control and parietal structures become more prominent in the encoding process with age. This developmental switch contributes to adults' superior memory performance but may render adults more vulnerable to committing semantically based errors., (Copyright © 2011 Elsevier Ltd. All rights reserved.)

Purpose: Optic pathway gliomas (OPGs) are diagnosed based on typical MR features and require careful monitoring with serial MRI. Reliable, serial radiological comparison of OPGs is a difficult task, where accuracy becomes very important for clinical decisions on treatment initiation and results. Current radiological methodology usually includes linear measurements that are limited in terms of precision and reproducibility., Method: We present a method that enables semiautomated segmentation and internal classification of OPGs using a novel algorithm. Our method begins with co-registration of the different sequences of an MR study so that T1 and T2 slices are realigned. The follow-up studies are then re-sliced according to the baseline study. The baseline tumor is segmented, with internal components classified into solid non-enhancing, solid-enhancing, and cystic components, and the volume is calculated. Tumor demarcation is then transferred onto the next study and the process repeated. Numerical values are correlated with clinical data such as treatment and visual ability., Results: We have retrospectively implemented our method on 24 MR studies of three OPG patients. Clinical case reviews are presented here. The volumetric results have been correlated with clinical data and their implications are also discussed., Conclusions: The heterogeneity of OPGs, the long course, and the young age of the patients are all driving the demand for more efficient and accurate means of tumor follow-up. This method may allow better understanding of the natural history of the tumor and provide a more advanced means of treatment evaluation.

Cranial aneurysmal bone cysts are uncommon. Cranial aneurysmal bone cysts of the occipital bone are exceedingly rare. A 2-year-old toddler with this rare cyst presented with a large space-occupying lesion of the posterior fossa, with cerebellar tonsillar herniation. The patient experienced complete recovery after total excision of the lesion. We review the literature regarding this rare presentation, and discuss the origin, pathogenesis, pathologic features, imaging characteristics, and treatment of cranial aneurysmal bone cysts., (Copyright © 2011 Elsevier Inc. All rights reserved.)

Clubfoot is a common birth deformity, and agenesis of the corpus callosum is one of the most prevalent brain malformations. We describe three sibs of Arab origin, who were born with clubfeet, agenesis of corpus callosum, and minor anomalies. Two of them were born with microcephaly. This phenotype may represent a novel autosomal recessive genetic condition., (Copyright © 2011 Wiley-Liss, Inc.)