Atypical Molecular Features of Pediatric Tectal Glioma: A Single Institutional Series.

We present 4 children (diagnosed between 1 and 8 y, 3 females and 1 male) with molecularly distinct tectal gliomas (2 KRAS mutant, 1 EGFR mutant, 1 SRGAP3-RAF-1 fusion) that contributes to the growing literature of this uncommonly biopsied tumor. The patient with EGFR R222C mutation had a more severe course, earlier diagnosis, subsequent leptomeningeal metastatic disease, required more aggressive therapies, and died 9 years after diagnosis. Patients with KRAS mutations and SRGAP3-RAF-1 fusion had a more indolent course. Our series expands the molecular phenotype of tectal glioma with the potential for leptomeningeal dissemination. Future studies on establishing genotypic/phenotypic correlation from those who undergo biopsy are needed.

Single-agent Bevacizumab in the Treatment of Symptomatic Newly Diagnosed and Recurrent/Refractory Pediatric Cervicomedullary Brainstem Low-grade Gliomas: A Single Institutional Experience.

Bevacizumab-based therapies have been utilized as single or combination therapy of refractory/recurrent pediatric low-grade gliomas. Its efficacy for symptomatic cervicomedullary low-grade gliomas (cmLGGs) in the upfront and the recurrent setting is less known. We report our retrospective single institutional experience from 2015 to 2021 with single-agent bevacizumab for symptomatic cmLGG. Six consecutive patients (4 female, ages 2 to 12 y) with newly diagnosed (n=3) and recurrent/refractory (n=3) symptomatic nondisseminated cmLGG (5/6 biopsy-proven, 2 BRAFV600E, 2 BRAF-KIAA1549) were treated with single-agent bevacizumab. All demonstrated radiographic response most pronounced on post-gadolinium T1-weighted magnetic resonance imaging (2 complete, 4 partial) at a median of 8 weeks (range: 2 to 12 wk). Clinical response was seen in all patients with improvement in cranial nerve abnormalities (3 recurrent/refractory, 1 newly diagnosed), strength (2 recurrent/refractory, 2 newly diagnosed), pain (2 recurrent/refractory), and anorexia (1 newly diagnosed). Four patients (2 recurrent/refractory, 2 newly diagnosed) experienced disease progression on subsequent adjunct therapies, 2 of which (the 2 newly diagnosed patients) are currently being rechallenged. At a mean follow-up of 7 months, all patients are clinically stable without disease progression. Single-agent bevacizumab may be effective in the management of symptomatic newly diagnosed and recurrent/refractory cmLGG and warrants further evaluation in a clinical trial setting.

Characterization of pediatric brain tumors using pre-diagnostic neuroimaging.

Purpose: To evaluate for predictive neuroimaging features of pediatric brain tumor development and quantify tumor growth characteristics in patients who had neuroimaging performed prior to a diagnosis of a brain tumor. Methods: Retrospective review of 1098 consecutive pediatric patients at a single institution with newly diagnosed brain tumors from January 2009 to October 2021 was performed to identify patients with neuroimaging prior to the diagnosis of a brain tumor. Pre-diagnostic and diagnostic neuroimaging features (e.g., tumor size, apparent diffusion coefficient (ADC) values), clinical presentations, and neuropathology were recorded in those patients who had neuroimaging performed prior to a brain tumor diagnosis. High- and low-grade tumor sizes were fit to linear and exponential growth regression models. Results: Fourteen of 1098 patients (1%) had neuroimaging prior to diagnosis of a brain tumor (8 females, mean age at definitive diagnosis 8.1 years, imaging interval 0.2-8.7 years). Tumor types included low-grade glioma (n = 4), embryonal tumors (n = 2), pineal tumors (n=2), ependymoma (n = 3), and others (n = 3). Pre-diagnostic imaging of corresponding tumor growth sites were abnormal in four cases (28%) and demonstrated higher ADC values in the region of high-grade tumor growth (p = 0.05). Growth regression analyses demonstrated R2-values of 0.92 and 0.91 using a linear model and 0.64 and 0.89 using an exponential model for high- and low-grade tumors, respectively; estimated minimum velocity of diameter expansion was 2.4 cm/year for high-grade and 0.4 cm/year for low-grade tumors. High-grade tumors demonstrated faster growth rate of diameter and solid tumor volume compared to low-grade tumors (p = 0.02, p = 0.03, respectively). Conclusions: This is the first study to test feasibility in utilizing pre-diagnostic neuroimaging to demonstrate that linear and exponential growth rate models can be used to estimate pediatric brain tumor growth velocity and should be validated in a larger multi-institutional cohort.

The role of methylation profiling in histologically diagnosed neurocytoma: a case series.

PURPOSE: To highlight the clinical, neuroradiographic, neuropathologic, and molecular features of histologically identified neurocytoma in a pediatric cohort and highlight the evolving use methylation profiling in providing diagnostic clarity in difficult to diagnosis pediatric brain tumors. METHODS: Five consecutive children (ages 9-13, 2 girls 3 boys) were histologically diagnosed with neurocytoma at Rady Children's Hospital San Diego from 2012 to 2018. Clinical and molecular features were analyzed with regards to treatment course and outcome. RESULTS: Presenting symptoms included seizures (n = 2), syncope (n = 1), headache (n = 2), visual disturbances (n = 2) and emesis (n = 2). Tumor location included intraventricular (n = 2), intraventricular with parenchymal spread (n = 1), and extraventricular (n = 2). Magnetic resonance imaging demonstrated reduced diffusivity (2/5), signal abnormality on susceptibility-weighted sequences (3/5), and varying degrees of contrast enhancement (4/5). All patients underwent surgical resection alone. Recurrence occurred in four children that were treated with surgery (4/4), adjuvant radiation (2/4), and chemoradiation (1/4). Neuropathologic features included positivity for GFAP (4/5), synaptophysin (4/5), NSE (2/2), NeuN (4/4), and variable Ki-67 (< 1% to 15%). Next generation sequencing (3/5) and microarray (3/5) collectively were abnormal in four of five tumors. Methylation profiling was successfully performed on four of five samples which led to modification of diagnosis in two patients and the others were either unclassifiable or confirmatory with the histologic diagnosis. Mean time to follow up was 77 months (range 44-112 months). Mean progression free survival and overall survival were 24 months (range 6 to 52 months) and 100% respectively. CONCLUSION: Neurocytomas are a rare clinical entity that warrants further investigation into molecular and pathologic prognosticating features. Methylation profiling may aid in differentiation of neurocytoma from other difficult to diagnose tumors who share similar histologic features.

Hemorrhagic Transformation Following Childhood Cardioembolic Stroke Is Not Increased in Anticoagulated Patients.

OBJECTIVE: To characterize the risk of hemorrhagic transformation following cardioembolic stroke in childhood, and whether anticoagulation impacts that risk. METHODS: Ninety-five children (1 month-18 years) with cardioembolic arterial ischemic stroke between January 1, 2009, and December 31, 2019, at 2 institutions were identified for retrospective chart review. Neuroimaging was reviewed to assess for hemorrhagic transformation. RESULTS: There were 11 cases of hemorrhagic transformation; 8 occurred within 2 days of stroke diagnosis. Risk of hemorrhagic transformation did not differ in patients with and without anticoagulation use (15% vs 9%, estimated risk difference 5%; CI -9%, 19%). Stroke size did not predict hemorrhagic transformation (OR 1.004, 95% CI 0.997, 1.010). Risk of hemorrhagic transformation was higher in strokes that occurred in the inpatient compared with the outpatient setting (16% vs 6%). CONCLUSION: Hemorrhagic transformation occurred in 11% of pediatric cardioembolic ischemic stroke, usually within 2 days of stroke diagnosis, and was not associated with anticoagulation or stroke size.

Clinical and Neuroimaging Features of Magnetic Resonance-Guided Stereotactic Laser Ablation for Newly Diagnosed and Recurrent Pediatric Brain Tumors: A Single Institutional Series.

OBJECTIVE: We describe our single-institutional experience with magnetic resonance-guided stereotactic laser ablation (SLA) for the treatment of newly diagnosed and recurrent pediatric brain tumors. METHODS: Eighteen consecutive ablation procedures were performed in 17 patients from March 2016-April 2020. Patient demographics, indications, procedures, neuroimaging features, and outcomes were reviewed retrospectively. RESULTS: Seventeen patients (mean age of 11.4 years, 11 boys, 6 girls) underwent SLA with a mean follow-up of 24 months (range: 3-45 months). Tumor histologies included pilocytic astrocytoma (n = 5), ganglioglioma (n = 3), low-grade glioma not otherwise specified (n = 4), glioblastoma (n = 2), meningioma (n = 1), medulloblastoma (n = 1), and metastatic malignant peripheral nerve sheath tumor (n = 1). SLA was first-line therapy in 10 patients. Mean procedure duration including anesthesia time was 328 minutes (range: 244-529 minutes), and mean postoperative length of stay was 1.5 days (range 1-5 days). The complication rate was 29%, which included 3 patients who experienced postoperative motor changes, which resolved within several weeks of surgery, 1 patient with self-limited intraoperative bradycardia and hypotension, and 1 patient who died postoperatively due to intracranial hemorrhage from a distant lesion. Twelve of 17 patients had a neuroimaging response after SLA (4 complete responses, 8 partial responses, 1 stable disease). Percentage of tumor shrinkage from baseline ranged from 33%-100% (mean 75%). Patients with low-grade glioma exhibited the best responses to SLA (range 3%-100% decrease; mean 90%; 36% complete response rate). CONCLUSIONS: SLA is a minimally invasive modality for the treatment of newly diagnosed and recurrent low-grade pediatric brain tumors. Low-grade glioma exhibited the best responses. Identification of ideal candidates for SLA, mitigation of perioperative complications, and demonstration of long-term outcomes need to be better defined in a clinical trial setting.

Fetal Ultrasound and Magnetic Resonance Imaging Findings in Suspected Septo-Optic Dysplasia: A Diagnostic Dilemma.

OBJECTIVES: To investigate prenatal imaging findings supporting a diagnosis of suspected septo-optic dysplasia (SOD) by fetal ultrasound (US), magnetic resonance imaging (MRI), or both. METHODS: A retrospective review identified 11 patients with SOD: 9 had a clinical diagnosis of SOD postnatally, and 2 were terminated on the basis of suspicious prenatal imaging. Prenatal and neonatal imaging of the cavum septi pellucidi (CSP), frontal horns (FHs), and lateral ventricles was evaluated. RESULTS: The appearance of the CSP varied on US and MRI. Complete ("fused") FHs or partial absence of the CSP was reported in 6 of 11 patients by fetal US and 7 of 8 patients by fetal MRI. The diagnosis of SOD was prospectively suspected prenatally in 6 of 11 and in an additional 5 of 11 cases retrospectively. Fetal MRI incorrectly initially reported normal morphologic abnormalities for 2 cases with partial absence of the CSP, whereas US accurately identified the morphologic abnormalities in 1 of these cases before MRI. Imaging features were first suggested at anatomic US (4 patients) and follow-up prenatal US (2 patients). Neonatal imaging was concordant in all 9 live births: 5 completely absent CSP, 3 partially absent CSP, and 1 completely present CSP. Clinical manifestations included optic nerve hypoplasia (9 of 9), panhypopituitarism (5 of 9), and neurodevelopmental delays. CONCLUSIONS: Primary imaging features of SOD are "continuous" FHs with complete or partial absence of the CSP. Septo-optic dysplasia can be suspected in utero and can appear isolated but has substantial associated central nervous system anomalies identified on fetal MRI or after birth. Partial absence of the CSP can be a prenatal sign of suspected SOD, although fetal MRI lacked the spatial resolution to identify it accurately in all cases.

Association of Umbilical Cord Milking vs Delayed Umbilical Cord Clamping With Death or Severe Intraventricular Hemorrhage Among Preterm Infants.

Importance: Umbilical cord milking as an alternative to delayed umbilical cord clamping may provide equivalent benefits to preterm infants, but without delaying resuscitation. Objective: To determine whether the rates of death or severe intraventricular hemorrhage differ among preterm infants receiving placental transfusion with umbilical cord milking vs delayed umbilical cord clamping. Design, Setting, and Participants: Noninferiority randomized clinical trial of preterm infants (born at 23-31 weeks' gestation) from 9 university and private medical centers in 4 countries were recruited and enrolled between June 2017 and September 2018. Planned enrollment was 750 per group. However, a safety signal comprising an imbalance in the number of severe intraventricular hemorrhage events by study group was observed at the first interim analysis; enrollment was stopped based on recommendations from the data and safety monitoring board. The planned noninferiority analysis could not be conducted and a post hoc comparison was performed instead. Final date of follow-up was December 2018. Interventions: Participants were randomized to umbilical cord milking (n = 236) or delayed umbilical cord clamping (n = 238). Main Outcomes and Measures: The primary outcome was a composite of death or severe intraventricular hemorrhage to determine noninferiority of umbilical cord milking with a 1% noninferiority margin. Results: Among 540 infants randomized, 474 (88%) were enrolled and completed the trial (mean gestational age of 28 weeks; 46% female). Twelve percent (29/236) of the umbilical cord milking group died or developed severe intraventricular hemorrhage compared with 8% (20/238) of the delayed umbilical cord clamping group (risk difference, 4% [95% CI, -2% to 9%]; P = .16). Although there was no statistically significant difference in death, severe intraventricular hemorrhage was statistically significantly higher in the umbilical cord milking group than in the delayed umbilical cord clamping group (8% [20/236] vs 3% [8/238], respectively; risk difference, 5% [95% CI, 1% to 9%]; P = .02). The test for interaction between gestational age strata and treatment group was significant for severe intraventricular hemorrhage only (P = .003); among infants born at 23 to 27 weeks' gestation, severe intraventricular hemorrhage was statistically significantly higher with umbilical cord milking than with delayed umbilical cord clamping (22% [20/93] vs 6% [5/89], respectively; risk difference, 16% [95% CI, 6% to 26%]; P = .002). Conclusions and Relevance: In this post hoc analysis of a prematurely terminated randomized clinical trial of umbilical cord milking vs delayed umbilical cord clamping among preterm infants born at less than 32 weeks' gestation, there was no statistically significant difference in the rate of a composite outcome of death or severe intraventricular hemorrhage, but there was a statistically significantly higher rate of severe intraventricular hemorrhage in the umbilical cord milking group. The early study termination and resulting post hoc nature of the analyses preclude definitive conclusions. Trial Registration: ClinicalTrials.gov Identifier: NCT03019367.

Scurvy Findings in a Child with Jacobsen Syndrome: A Case Report.

CASE: We describe the first reported case of scurvy developing secondary to behavioral traits of Jacobsen syndrome. The diagnosis of scurvy was significantly delayed because bleeding symptoms were initially attributed to baseline thrombocytopenia and platelet dysfunction associated with Jacobsen syndrome and patient's medication. Following vitamin C supplementation, signs and symptoms of the patient's disease quickly resolved. CONCLUSIONS: We aim to reinforce the need to consider nutritional deficiencies in patients with complex medical histories and behavioral issues, especially when presenting with new complaints.

Undescended retropharyngeal parathyroid adenoma with adjacent thymic tissue in a 13-year-old boy with primary hyperparathyroidism.

We describe a rare presentation of a symptomatic parathyroid adenoma located in an ectopic retropharyngeal position in a 13-year-old boy. Preoperative CT scan and MRI demonstrated the ectopic location of the parathyroid adenoma. The patient underwent successful parathyroidectomy with cure of his hyperparathyroidism. On pathologic exam, the specimen was made up of a parathyroid adenoma and adjacent thymic tissue, indicating that it was likely an undescended lower parathyroid gland arising from the third pharyngeal pouch. Ectopic retropharyngeal parathyroid adenomas are very rare and to our knowledge, none have been previously described in adolescents.

Brain Magnetic Resonance Imaging Findings in Poorly Controlled Homocystinuria.

Homocystinuria is an inherited metabolic disorder most commonly caused by cystathionine ß-synthase deficiency. Severe cases can cause white matter abnormalities that can mimic other vascular, toxic and metabolic disorders on computed tomography and magnetic resonance imaging. We present such a case which demonstrates not only extensive white matter abnormalities on magnetic resonance imaging, but also previously unreported basal ganglia signal abnormalities and imaging manifestations of increased intracranial pressure, likely caused by elevated methionine and betaine therapy. We also review the literature and discuss the potential underlying biologic mechanisms of these imaging findings.

Single-agent bevacizumab in the treatment of recurrent or refractory pediatric low-grade glioma: A single institutional experience.

INTRODUCTION: Bevacizumab-based therapy has been demonstrated to be effective in the treatment of refractory or recurrent pediatric low-grade glioma (LGG); however its efficacy as a single agent is less understood. METHODS: We report our experience with single-agent bevacizumab for the treatment of recurrent or refractory LGG treated with either standard 2 week dosing (10 mg/kg/dose every 2 weeks) or with a standard 2 week dosing followed by an increased interval dosing (10 mg/kg/dose every 4 weeks). RESULTS: From 2012 to 2017, 15 patients (five males and 10 females) with recurrent/refractory LGG (nine suprasellar, three thalamic, two brainstem, and one intramedullary spinal cord) were treated with a total of 156 doses of bevacizumab (115 every 2 week dosing, 41 every 4 week dosing, median 10 doses). Patients were refractory to a median of one nonsurgical therapy (range 0-3) prior to treatment with bevacizumab. Twelve of 15 demonstrated radiographic response (three complete, nine partial, and three stable disease). Significant clinical responses including improved visual fields (four), cranial neuropathy (three3), strength (seven), and gait (two) were observed. Bevacizumab was discontinued in 12 patients (resolution, one; disease stability, seven; progression, two; toxicity, one; and other, one) and three patients continue to receive monthly bevacizumab. Eleven patients eventually had radiographic progression (median 5 months, range 0.5-31) without clinical progression, and four of five receiving bevacizumab rechallenge had lpartial response. CONCLUSION: Single-agent bevacizumab is efficacious in the management of recurrent or refractory pediatric LGG with radiographic and clinical responses similar to those reported for bevacizumab-based therapies.

Orbital Perivenous Abscess Complicating the Diagnosis and Management of Orbital Cellulitis.

An 11-year-old female presented with orbital cellulitis, bacterial sinusitis, enlarged left superior ophthalmic vein, dural venous sinuses, and internal jugular vein. The patient underwent endoscopic sinus surgery and was started on intravenous antibiotics and anticoagulation with limited improvement in orbital signs and symptoms. A magnetic resonance imaging/magnetic resonance venography of the orbits and brain revealed a dilated left superior ophthalmic vein with absence of flow but no clearly discernible orbital abscess. Intravenous corticosteroids resulted in dramatic improvement of pain, hypoglobus, proptosis, and extraocular motility, all of which rapidly recurred on discontinuation. Serial imaging revealed progression of what eventually manifested as a well-defined, rim-enhancing peri-superior ophthalmic vein abscess, which was incised and drained with prompt resolution of orbital cellulitis and complete visual recovery.

Enlarged Cavum Septi Pellucidi and Vergae in the Fetus: A Cause for Concern.

OBJECTIVES: To investigate fetal cases identified at our institution to determine whether an enlarged cavum septi pellucidi or cavum vergae is associated with other fetal abnormalities and whether its presence warrants more detailed investigation of the fetus. METHODS: In a retrospective study, 15 high- and low-risk patients undergoing prenatal sonography who had an enlarged cavum septi pellucidi or cavum vergae identified were reviewed. Data were collected for the sonographic study indication, gestation age at diagnosis of a prominent cavum, and associated anomalies. Follow-up outcome data regarding further imaging, karyotype, diagnosis of brain anomaly, and associated congenital abnormalities were obtained. RESULTS: Fifteen patients met the inclusion criteria. Nine patients were identified as having a prominent cavum septi pellucidi, and 6 were identified as having a prominent cavum vergae. The mean gestational age ± SD was 22.7 ± 5.9 weeks. Eleven patients made it to delivery. Of the 15 patients, 4 were thought to have trisomy 21, and 13 had congenital anomalies. Outcomes included 10 major adverse outcomes, 4 cases with normal development or minor abnormalities, and 1 lost to follow-up. An isolated dilated cavum on prenatal sonography was seen in 5 cases: 1 with lissencephaly on a neonatal examination, 3 premature deliveries (1 demise, 1 hospice, and 1 normal), and 1 unknown. CONCLUSIONS: Our cohort had many associated clinical anomalies: 3 confirmed trisomy 21 and 1 probable trisomy 21, 2 genetic disorders, and 10 major adverse outcomes, 5 of which were grave. Although we studied a small cohort, we conclude that an enlarged cavum septi pellucidi or cavum vergae warrants consideration of genetic counseling, which may include noninvasive prenatal testing (cell-free DNA), amniocentesis with microarray testing, or both.

Atypical Teratoid Rhabdoid Tumor in a Teenager with Unusual Infiltration Into the Jugular Foramen.

BACKGROUND: Atypical teratoid rhabdoid tumor is a rare malignant neoplasm that represents 1%-2% of all pediatric central nervous system tumors. Immunohistochemistry plays an important role in establishing the diagnosis with a loss of INI-1 staining in tumor cells. In this case report, we describe a teenager with an unusual presentation and pattern of infiltration of the tumor. CASE DESCRIPTION: A 13-year-old boy presented with a history over several months of progressive nausea, weight loss, and hoarseness of voice associated with multiple lower cranial nerve palsies on neurologic examination. Magnetic resonance imaging revealed a large heterogeneously enhancing extra-axial neoplasm with extension and bony expansion of the jugular foramen. After near total resection, neuropathology demonstrated the absence of INI-1 expression consistent with a diagnosis of atypical teratoid rhabdoid tumor. CONCLUSIONS: This case highlights the diverse clinical presentation and infiltrative potential of atypical teratoid rhabdoid tumors, thus expanding the differential diagnosis of extra-axial tumors invading the jugular foramen.

Pituitary tumor apoplexy in adolescents.

OBJECTIVE: The aim of this study was to determine whether there are differences in pituitary apoplexy and subclinical apoplexy secondary to adenoma hemorrhage in the adolescent population with regard to symptomatology, neuroimaging features, pathology, and outcomes compared with adults. METHODS: A retrospective series of 9 consecutive patients with a diagnosis of pituitary hemorrhage who were surgically treated at Rady's Children's Hospital San Diego, between 2008 and 2013 were evaluated for clinical, endocrine, neuroradiographic, and pathologic features in association with clinical outcomes. RESULTS: Nine patients (6 girls, age 14-21 years) presented to our institution with headache (9/9), nausea (3/9), dizziness (4/9), and visual disturbances (6/9) in the setting of a sellar hemorrhagic tumor on magnetic resonance imaging (MRI). Three patients presented with apoplexy and 6 with subclinical apoplexy. Duration of symptoms ranged from 3 days to 1 year. MRI revealed hemorrhage (9/9), rim enhancement (6/9), sphenoid sinus mucosal thickening (2/9), mass effect on the optic chiasm (8/9), and sellar remodeling (9/9). The percentage of hemorrhage preoperatively observed on MRI ranged from 50% to greater than 95%. On presentation, hyperprolactinemia was recorded in 7 patients, 6 of whom had galactorrhea and/or amenorrhea. Open transsphenoidal decompression was performed in 8/9 patients; 7 of 9 were diagnosed with prolactinoma. Biopsy specimens revealed 10%-90% hemorrhage and no infarction in any of the cases. All patients treated showed improvement of symptoms after surgery (average follow-up, 28.2 months). Postoperative complications included transient diabetes insipidus (n = 5), persistent cerebrospinal fluid rhinorrhea (n = 3), and meningitis (n = 1). Five patients had long-term endocrine sequelae of hyperprolactinemia requiring ongoing medical treatment. CONCLUSIONS: Pituitary hemorrhage resulting in apoplexy or subclinical apoplexy in adolescents may represent a distinct entity with a more indolent symptomatology and more favorable neurologic and endocrine outcome compared with adults that is worthy of further validation in a multi-institutional cohort.

FDG PET of the brain in pediatric patients: imaging spectrum with MR imaging correlation.

Positron emission tomography (PET) of the brain is an important problem-solving tool in pediatric neuroimaging, neurology, and neurosurgery. Fluorine 18 fluorodeoxyglucose (FDG) PET or dual-modality PET and computed tomographic (CT) imaging (PET/CT), with magnetic resonance (MR) imaging correlation, can be used to evaluate childhood epilepsy and pediatric brain tumors, areas in which PET adds value in patient management. FDG PET has been widely used in pediatric temporal lobe epilepsy, most commonly manifesting as mesial temporal sclerosis, which demonstrates hypometabolism at interictal PET and hypermetabolism during seizures. Recently, FDG PET has shown added value for patients with extratemporal epilepsy, in whom FDG PET can help identify cortical foci of interictal hypometabolism that are undetectable or difficult to detect with MR imaging. These findings can then guide additional investigations and surgery. FDG PET also enhances medical decision making in children with brain tumors, in whom FDG PET can be used to (a) improve the diagnostic yield of stereotactic biopsies by detecting metabolically active areas of tumor, (b) help guide the surgeon in achieving total tumor resection, and (c) increase detection of residual or recurrent tumor. Technologic advances in the past decade have allowed fusion of PET and MR images, combining the high resolution of MR imaging with the low-resolution functional capability of PET. As dual-modality integrated PET/MR imaging systems become available, CT coregistration for PET can be eliminated, thus reducing patient radiation exposure. Increasing familiarity with normal and abnormal appearances of FDG PET brain images correlated with MR images can enhance diagnostic yield and improve the care of children with epilepsy and brain tumors.

Craniosynostosis: imaging review and primer on computed tomography.

Craniosynostosis is encountered in the pediatric population in isolated or syndromic forms. The resulting deformity depends on the number and type of sutures involved and, in multi-sutural synostosis, the order of suture fusion. Primary craniosynostosis needs to be differentiated from the secondary variety and positional or deformational mimics. Syndromic craniosynostoses are associated with other craniofacial deformities. Evaluation with 3-D CT plays an important role in accurate diagnosis and management; however, implementation of appropriate CT techniques is essential to limit the radiation burden in these children. In this article, the authors briefly review the classification, embryopathogenesis and epidemiology and describe in detail the radiologic appearance and differential diagnoses of craniosynostosis.

Oculoauriculofrontonasal syndrome: case series revealing new bony nasal anomalies in an old syndrome.

Frontonasal Dysplasia (FND) and Oculo-auriculo-vertebral spectrum (OAVS) are two well-recognized clinical entities. With features of both FND and OAVS, the term oculoauriculofrontonasal syndrome (OAFNS) was coined in 1981. The OAFNS phenotype combines elements of abnormal morphogenesis of the frontonasal and maxillary process (derived from forebrain neural crest) with abnormal development of the first and second branchial arches (derived from hindbrain neural crest). We present a case series of 33 children with OAFNS ascertained from a comprehensive review of the literature and report an additional retrospective series of eight patients displaying features consistent with OAFNS. Notably, in a subset of our cases, we have observed abnormalities in nasal ossification and bony structures of the maxilla that have not previously described in OAFNS and are not seen in either FND or OAVS. We present the phenotype and novel naso-maxillary findings and explore potential etiologic and developmental pathways for OAFNS. We highlight the differences in phenotypic characteristics of OAFNS compared to OAVS and FND. These observations support the classification of OAFNS as a discrete syndrome. Further phenotypic refinements of OAFNS are needed to understand pathogenesis of this syndrome and the newly described nasal malformation may help identify the etiology.