A Radiologist's Guide to the 2021 WHO Central Nervous System Tumor Classification: Part 2-Newly Described and Revised Tumor Types.

The fifth edition of the World Health Organization classification of tumors of the central nervous system (CNS), published in 2021, introduces major shifts in the classification of brain and spine tumors. These changes were necessitated by rapidly increasing knowledge of CNS tumor biology and therapies, much of which is based on molecular methods in tumor diagnosis. The growing complexity of CNS tumor genetics has required reorganization of tumor groups and acknowledgment of new tumor entities. For radiologists interpreting neuroimaging studies, proficiency with these updates is critical in providing excellent patient care. This review will focus on new or revised CNS tumor types and subtypes, beyond infiltrating glioma (described in part 1 of this series), with an emphasis on imaging features.

A Radiologist's Guide to the 2021 WHO Central Nervous System Tumor Classification: Part I-Key Concepts and the Spectrum of Diffuse Gliomas.

The fifth edition of the World Health Organization (WHO) classification of tumors of the central nervous system, published in 2021, contains substantial updates in the classification of tumor types. Many of these changes are relevant to radiologists, including "big picture" changes to tumor diagnosis methods, nomenclature, and grading, which apply broadly to many or all central nervous system tumor types, as well as the addition, elimination, and renaming of multiple specific tumor types. Radiologists are integral in interpreting brain tumor imaging studies and have a considerable impact on patient care. Thus, radiologists must be aware of pertinent changes in the field. Staying updated with the most current guidelines allows radiologists to be informed and effective at multidisciplinary tumor boards and in interactions with colleagues in neuro-oncology, neurosurgery, radiation oncology, and neuropathology. This review represents the first of a two-installment review series on the most recent changes to the WHO brain tumor classification system. This first installment focuses on the changes to the classification of adult and pediatric gliomas of greatest relevance for radiologists.

Imaging Findings of Pediatric Orbital Masses and Tumor Mimics.

Pediatric orbital masses are not common but encompass a wide spectrum of benign and malignant entities that range from developmental anomalies to primary and secondary orbital malignancies and metastatic disease. Certain orbital tumors are unique to pediatric patients, such as retinoblastoma and neuroblastoma. Clinical symptoms and signs are often insufficient to differentiate between orbital lesions, and imaging is essential for narrowing the diagnostic considerations and determining the most appropriate management strategy. MRI is the primary imaging modality for evaluating orbital masses in children, with US and CT playing complementary roles. The authors review a spectrum of masses and tumor mimics that affect the pediatric globe and orbit. The shared and differentiating characteristics of pediatric orbital lesions are reviewed. Emphasis is placed on utilizing an orbital compartment-based approach to narrow the differential diagnosis. By using this organizational scheme, the authors describe intraocular processes (retinoblastoma, persistent fetal vasculature, and Coats disease), intraconal lesions (lymphatic malformation, schwannoma, optic nerve sheath meningioma, and optic pathway glioma), extraconal lesions (infantile hemangioma, rhabdomyosarcoma, idiopathic orbital inflammation, lymphoma, venous varix, plexiform neurofibroma, and pleomorphic adenoma of the lacrimal gland), and lesions involving the bony orbit (dermoid cyst, metastatic neuroblastoma, and Langerhans cell histiocytosis). The authors describe the basic management of each entity. Orbital infections and traumatic lesions are beyond the scope of this article. ©RSNA, 2022.

Intracranial and extracranial vascular manifestations of patients with a clinical diagnosis of Klippel-Trenaunay syndrome.

BACKGROUND AND PURPOSE: While numerous reports have demonstrated intracranial CNS anomalies associated with Klippel-Trenaunay syndrome, to our knowledge, there has not been a large consecutive study examining these anomalies. The aim of this study was to determine the spectrum of intracranial neurovascular manifestations in patients with a clinical diagnosis of Klippel-Tranaunay syndrome. METHODS: Consecutive patients with a clinical diagnosis of Klippel-Trenaunay syndrome, as defined by the International Society for the Study of Vascular Anomalies, who underwent brain contrast-enhanced CT/computed tomography angiography, MRI/magnetic resonance angiography, or digital subtraction angiography at our institution from 2000 to 2019 were included. Studies were evaluated by a neuroradiologist and a senior radiology resident for the presence of cavernous malformations, developmental venous anomalies, venous sinus developmental abnormalities, craniofacial venous malformations, intraosseous venous malformations, and intracranial/extracranial venous abnormalities. RESULTS: Fifty patients with definite KTS were included. Thirty-four neurovascular anomalies were found in 17 patients (34.0%), including 8 with multiple anomalies. Nine patients had developmental venous anomalies (18.0%), 7 had craniofacial venous malformations (14.0), 6 had venous sinus developmental abnormalities (12.0%), 7 had intraosseous venous malformations (14.0%), and 2 had cavernous malformations (4.0%), and 9 patients had both intracranial venous abnormalities and craniofacial or calvarial findings (13.0%). CONCLUSION: Our findings demonstrate that Klippel-Trenaunay syndrome can involve a wide spectrum of intracranial neurovascular anomalies predominantly involving the venous system.

2016 Updates to the WHO Brain Tumor Classification System: What the Radiologist Needs to Know.

Radiologists play a key role in brain tumor diagnosis and management and must stay abreast of developments in the field to advance patient care and communicate with other health care providers. In 2016, the World Health Organization (WHO) released an update to its brain tumor classification system that included numerous significant changes. Several previously recognized brain tumor diagnoses, such as oligoastrocytoma, primitive neuroectodermal tumor, and gliomatosis cerebri, were redefined or eliminated altogether. Conversely, multiple new entities were recognized, including diffuse leptomeningeal glioneuronal tumor and multinodular and vacuolating tumor of the cerebrum. The glioma category has been significantly reorganized, with several infiltrating gliomas in children and adults now defined by genetic features for the first time. These changes were driven by increased understanding of important genetic factors that directly impact tumorigenesis and influence patient care. The increased emphasis on genetic factors in brain tumor diagnosis has important implications for radiology, as we now have tools that allow us to evaluate some of these alterations directly, such as the identification of 2-hydroxyglutarate within infiltrating gliomas harboring mutations in the genes for the isocitrate dehydrogenases. For other tumors, such as medulloblastoma, imaging can demonstrate characteristic patterns that correlate with particular disease subtypes. The purpose of this article is to review the changes to the WHO brain tumor classification system that are most pertinent to radiologists. ©RSNA, 2017.

Pituitary volume changes in pregnancy and the post-partum period.

PURPOSE: Imaging changes in the pituitary volume during pregnancy remains scantly researched. This study set out to assess the differences in total, anterior, and posterior pituitary volume in pregnant women compared to nulliparous and post-partum women. MATERIALS AND METHODS: A retrospective review was completed of women that had undergone MRI imaging of the brain. Patients were divided into three cohorts: pregnant, nulliparous, and post-partum (defined as being within 12 months of delivery). Anterior and posterior pituitary volumes were manually measured. RESULTS: 171 patients were included, of which 68 were pregnant, 52 were post-partum, and 51 were nulliparous. The average anterior (621.0 ± 171.6 mm3) and total (705.4 ± 172.2 mm3) pituitary volumes were significantly larger in pregnant patients than nulliparous women (522.6 ± 159.8 mm3 and 624.5 ± 163.7 mm3, respectively) (p = .002 and p = .01, respectively). The posterior pituitary volume was significantly smaller in pregnant women (84.4 ± 32.9 mm3) compared to both post-partum (101.2 ± 42.0 mm3) and nulliparous (102.0 ± 46.1 mm3) women (p = .02 for both). CONCLUSIONS: The anterior and total pituitary volumes are significantly larger during pregnancy persisting into the post-partum period. The posterior pituitary volume, conversely, decreases during pregnancy, and returns to its normal size in the post-partum period.

Spontaneous Intracranial Hypotension in Children: A Multi-Institutional Review of Spinal CSF Leaks Localized on Advanced Myelography.

Spontaneous intracranial hypotension is an increasingly recognized syndrome caused by a spinal CSF leak, with most reported cases occurring in adults. The use of specialized or advanced myelography to localize spinal CSF leaks has evolved substantially in recent years, particularly since the initial description of CSF-venous fistulas in 2014. To our knowledge, no prior series have evaluated the use of specialized myelographic techniques to localize CSF leaks in children with spontaneous intracranial hypotension, likely because the disease is rare in this patient population. This issue may be compounded by a hesitation to perform invasive procedures in children. In this clinical report, we conducted a multi-institutional review of pediatric patients with spontaneous spinal CSF leaks localized using advanced myelographic techniques, such as prone and decubitus digital subtraction and CT myelography, as well as dynamic CT myelography. We report the clinical features of these patients, as well as imaging findings, types of leaks discovered, and method of treatment. We found that the primary types of spontaneous spinal CSF leaks that occur in adults, including dural tears and CSF fistulas, can be seen in children, too. Furthermore, we show that specialized myelographic techniques can successfully localize these leaks and facilitate effective targeted treatment.

Infectious and Inflammatory Processes of the Orbits in Children.

Most primary orbital pathology in children is due to bacterial infection. Radiologists typically encounter these cases to evaluate for clinically suspected postseptal orbital involvement. Contrast-enhanced cross-sectional imaging is important for the detection and early management of orbital infection and associated subperiosteal/orbital abscess, venous thrombosis, and intracranial spread of infection. Benign mass-like inflammatory processes involving the pediatric orbit are rare, have overlapping imaging features, and must be distinguished from orbital malignancies.

Dorsoventral splitting of the infundibulum in a child with pituitary hypoplasia.

Pituitary development arises from ectodermal tissue creating Rathke's pouch and ultimately the adenohypophysis anteriorly whereas neuroectodermal tissue arising from the diencephalon creates the neurohypophysis posteriorly. Alterations in pituitary development can lead to hormonal dysregulation and dysfunction. Following clinical suspicion of pituitary endocrinopathy, MRI plays a vital role in identifying and characterizing underlying structural abnormalities of the pituitary gland, as well as any associated extrapituitary findings. Here we report a case of an 18-month-old female presenting with short stature and growth hormone deficiency. MRI was notable for a shallow sella turcica, a hypoplastic adenohypophysis, thin pituitary stalk, and ectopic neurohypophysis. Interestingly, the pituitary stalk was noted to split dorsoventrally with a split pituitary bright spot and T1 hypointense lobe hypothesized to represent separation of the posterior pituitary lobes.

Temporal Encephalocele: A Treatable Etiology of Drug-Resistant Pediatric Temporal Lobe Epilepsy.

BACKGROUND: Temporal lobe encephaloceles (TEs) are a rare cause of drug-resistant temporal lobe epilepsy (DR-TLE), with head trauma and obesity identified as risk factors in adults. This study evaluated the clinical characteristics of childhood-onset DR-TLE due to TE. METHODS: This is a single-institution retrospective review of childhood-onset DR-TLE with radiographic TE identified between 2008 and 2020. The epilepsy history, brain imaging features, and surgical outcomes were collected. RESULTS: Eleven children with DR-TLE due to TE were included (median age at epilepsy onset was 11 years, interquartile range 8.5 to 13.5 years). Median latency between epilepsy diagnosis and TE detection was 3 years (range of 0 to 13 years). None had history of head trauma. Body mass index greater than 85 percentile for age and sex was seen in 36% of the children. No patient had bilateral TE identified. TEs were diagnosed based on epilepsy surgery conference re-review of imaging in 36% of cases. All herniations were contained defects without osseous dehiscence. Regional fluorodeoxyglucose (FDG) hypometabolism ipsilateral to the encephalocele was seen in all children who had FDG-positron emission tomography (PET) of the brain. Of the children who had surgery, 70% were seizure free or had nondisabling seizures at last follow-up (mean follow-up 52 months). CONCLUSIONS: TE is a surgically remediable etiology of DR-TLE in childhood. TEs are often overlooked at pediatric epilepsy diagnosis, calling for the need to increase awareness of this entity. FDG-PET temporal hypometabolism in children with presumed nonlesional DR-TLE should be carefully examined for occult TEs.

Potential benefits of photon counting detector computed tomography in pediatric imaging.

Photon counting detector (PCD) CT represents the newest advance in CT technology, with improved radiation dose efficiency, increased spatial resolution, inherent spectral imaging capabilities, and the ability to eliminate electronic noise. Its design fundamentally differs from conventional energy integrating detector CT because photons are directly converted to electrical signal in a single step. Rather than converting X-rays to visible light and having an output signal that is a summation of energies, PCD directly counts each photon and records its individual energy information. The current commercially available PCD-CT utilizes a dual-source CT geometry, which allows 66 ms cardiac temporal resolution and high-pitch (up to 3.2) scanning. This can greatly benefit pediatric patients by facilitating high quality fast scanning to allow sedation-free imaging. The energy-resolving nature of the utilized PCDs allows "always-on" dual-energy imaging capabilities, such as the creation of virtual monoenergetic, virtual non-contrast, virtual non-calcium, and other material-specific images. These features may be combined with high-resolution imaging, made possible by the decreased size of individual detector elements and the absence of interelement septa. This work reviews the foundational concepts associated with PCD-CT and presents examples to highlight the benefits of PCD-CT in the pediatric population.

The cerebrofacial metameric syndromes: An embryological review and proposal of a novel classification scheme.

The cerebrofacial metameric syndromes are a group of congenital syndromes that result in vascular malformations throughout specific anatomical distributions of the brain, cranium and face. Multiple reports of patients with high-flow or low-flow vascular malformations following a metameric distribution have supported this idea. There has been much advancement in understanding of segmental organization and cell migration since the concept of metameric vascular syndromes was first proposed. We aim to give an updated review of these embryological considerations and then propose a more detailed classification system for these syndromes, predominately incorporating the contribution of neural crest cells and somitomeres to the pharyngeal arches.

Imaging of benign cervicofacial vascular anomalies and associated syndromes.

Cervicofacial vascular anomalies can result in morbidity, pain, and cosmetic concerns in affected individuals. Each anomaly has its own unique natural history, treatment, and associations with underlying genetic syndromes. For optimal patient care, it is important for the neuroradiologist to accurately recognize and characterize these entities to ensure appropriate treatment and management. In this review, we discuss the general characteristics, classifications, and imaging features associated with the most common vascular anomalies such as hemangiomas, arteriovenous malformations and fistulas, capillary malformations, venous malformations, and lymphatic malformations in the context of associated syndromes. Additionally, we discuss novel imaging techniques that aid in identifying these vascular anomalies.

Functional MRI in Children: Current Clinical Applications.

Functional magnetic resonance imaging has become a critical research tool for evaluating brain function during active tasks and resting states. This has improved our understanding of developmental trajectories in children as well as the plasticity of neural networks in disease states. In the clinical setting, functional maps of eloquent cortex in patients with brain lesions and/or epilepsy provides crucial information for presurgical planning. Although children are inherently challenging to scan in this setting, preparing them appropriately and providing adequate resources can help achieve useful clinical data. This article will review the basic underlying physiologic aspects of functional magnetic resonance imaging, review clinically relevant research applications, describe known validation data compared to gold standard techniques and detail future directions of this technology.

Rapidly Progressive Paraplegia in an 11-Year-Old Girl: A Case of Spinal Cord Infarction and Expected Imaging Findings.

Rapidly progressive non-traumatic paraplegia in a child is uncommonly encountered in clinical practice, but is an important presentation to consider given the potential for significant morbidity. We present the case of an 11-year-old girl who was found to have hyperacute paraplegia due to spinal cord infarction. We discuss the appropriate workup, differential diagnosis in children and how this relates to adults; and describe the prognosis and current state of management options for spinal cord infarction.

Dorsal cauda equina nerve root enhancement on magnetic resonance imaging due to ANNA-1-associated paraneoplastic polyneuropathy.

A 69-year-old female presented with subacute onset ascending weakness and paraesthesias. She was initially diagnosed with Guillain-Barré syndrome (GBS) based on her clinical presentation and cerebrospinal fluid (CSF) analysis showing albuminocytological dissociation. However, she was later found to have anti-neuronal nuclear antibody 1 (ANNA-1/anti-Hu)-positive CSF and was subsequently diagnosed with small-cell lung cancer. Her neurological symptoms were ultimately attributed to ANNA-1/anti-Hu-associated paraneoplastic polyneuropathy. During the course of her evaluation, she had magnetic resonance imaging findings of dorsal predominant cauda equina nerve root enhancement, which has not been previously described. The only previously reported case of cauda equina enhancement due to ANNA-1-associated polyneuropathy described ventral predominant findings. The distinction between ventral and dorsal enhancement is important, since it suggests that different patterns of nerve root involvement may be associated with this paraneoplastic syndrome. Therefore, ANNA-1-associated paraneoplastic inflammatory polyneuropathy can be considered in the differential diagnosis of cauda equina nerve root enhancement with ventral and/or dorsal predominance. This can potentially be helpful in differentiating ANNA-1 polyneuropathy from GBS, which classically has ventral predominant enhancement.

Glioma response assessment: Classic pitfalls, novel confounders, and emerging imaging tools.

Neuroimaging plays a pivotal role in the care of patients with infiltrating gliomas, in whom imaging changes are often the first indications of tumor response or progression. Unfortunately, evaluation of glioma response is often not straightforward, even for experienced radiologists. Post-surgical or radiation-related changes may mimic the appearance of disease progression, while medications such as corticosteroids and antiangiogenic agents may mimic tumor response without truly arresting tumor growth or improving patient survival. Immunotherapy response can result in inflammatory changes which manifest as progressively increasing tumor enhancement and edema over months. Many of these pitfalls can be minimized or avoided altogether by the use of modern brain tumor response criteria, while others will require new imaging tools before they can be fully addressed. Advanced MRI methods and novel positron emission tomography (PET) agents are proving important for this purpose, and their role will undoubtedly continue to grow in the future.

Facial nerve venous malformation: A radiologic and histopathologic review of 11 cases.

OBJECTIVE: The purpose of this article was to provide a combined pathologic and radiologic review of previous pathologically diagnosed facial nerve "hemangiomas" to confirm that these lesions are most characteristic of venous malformations rather than neoplasms. STUDY DESIGN: Retrospective radiologic, clinical, and histopathologic review of all patients with a previous pathologically diagnosed facial nerve hemangioma of the temporal bone who underwent computed tomography or magnetic resonance imaging (MRI) were included. A consensus radiologic review for characteristic features and pathologic analysis was performed. MATERIALS AND METHODS: A panel of 4 neuroradiologists retrospectively analyzed CT and MRI exams for 11 facial nerve hemangiomas and provided a consensus agreement on the characteristic imaging features. Concurrently, two neuropathologists reevaluated archived tissue specimens from these lesions and applied additional immunohistochemical and histochemical stains including D240, CD31, smooth muscle actin (SMA), Verhoeff Van Gieson (VVG) and glucose transporter 1 (GLUT1). RESULTS: Lesions were composed of dilated vascular spaces with a simple, CD31-positive endothelial lining and a smooth muscle component. All lesions were negative for markers found in arterial and lymphatic malformations and infantile hemangiomas. They had characteristic radiologic features previously ascribed to facial nerve hemangiomas. Namely, these lesions are typically T1 isointense or hypointense and T2 hyperintense relative to cerebral cortex and heterogeneously enhance on MRI. Bony canal expansion and erosion, intralesional calcification, and intracranial extension are common. CONCLUSIONS: On the basis of this radiologic and pathologic review, these lesions are best characterized as venous malformations. LEVEL OF EVIDENCE: 4.