Low-grade epilepsy-associated tumors (LEATs) are a distinct group of tumors commonly encountered in pediatric drug-resistant epilepsy that necessitate surgical intervention. Like tumors elsewhere in the central nervous system, molecular characterization is becoming an increasingly important consideration in pediatric neuro-oncology prognostication and management for LEATs. Thus, familiarity with relevant tumor mutations and radiogenomic features of LEATs is important for radiologists caring for affected patients. This article will review the genetic alterations and imaging characteristics of LEATs, formatted according to the three categories defined by the World Health Organization (WHO): glioneuronal and neuronal tumors (ganglioglioma, dysembryoplastic neuroepithelial tumor, papillary glioneuronal tumor, multinodular and vacuolating neuronal tumor); circumscribed astrocytic gliomas (pilocytic astrocytoma, pleomorphic xanthoastrocytoma); and pediatric-type diffuse low-grade gliomas (diffuse astrocytoma MYB or MYBL1-altered, angiocentric glioma, diffuse low-grade glioma MAPK pathway-altered, polymorphous low-grade neuroepithelial tumor of the young).
Abusive spinal injuries, although often clinically silent, may require treatment and have medicolegal significance. Abused infants are prone to ligamentous injury of the craniocervical junction and upper cervical spine, which is often associated with brain hypoxic-ischemic injury. Although they are relatively common and highly specific for abuse, thoracolumbar spine injuries (e.g., thoracolumbar compression fractures and spinal extra-axial hemorrhages) are most often clinically occult. Additionally, they are often undetectable on skeletal survey and are frequently found in the absence of cervical spine injuries. Therefore, MRI screening of the whole spine is needed in selected cases of abusive trauma with potential for spinal injuries. This review discusses indications and summarizes recommendations for whole-spine imaging in cases of suspected child abuse. Imaging examples that emphasize the importance of whole-spine MRI in child abuse are provided. Vertebral fracture, spinal cord injury, spinal hemorrhage, and ligamentous and paraspinal soft tissue injury are discussed and illustrated.
Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS), also known as Berdon syndrome, is a rare genetic congenital disorder of impaired smooth muscle contractility, resulting in functional obstruction of the bladder and bowel. Historically associated with a poor prognosis, recent advances in the use of total parenteral nutrition (TPN), intestinal rehabilitation, and multi-visceral transplantation have led to improvements in survival in patients with MMIHS, with patients now living into the second decade of life. The radiologist plays a key role in the initial workup of these patients and is often the first to suggest the diagnosis. Furthermore, with patients living longer, the radiologist’s role now includes the following: (1) identifying complications on follow-up imaging, such as distinguishing mechanical obstruction from dysmotility; (2) following findings of chronic kidney disease; and (3) recognizing cholestatic TPN-related liver disease. With expedient diagnosis and management, survival can be extended, and quality of life can be improved. This pictorial essay aims to demonstrate the spectrum of imaging findings in the prenatal stage, the neonatal period, and later childhood in confirmed cases. Clinical findings, management, and outcomes of MMIHS, as well as imaging features that differentiate MMIHS from similar conditions, will be discussed.
Duplication of the pituitary gland is a rare anomaly with variable associated craniofacial malformations (duplicated pituitary gland plus syndrome). Thus far, malformations have only been reported in the craniofacial structures, central nervous system (CNS), and spine. This report illustrates a severe case with additional, previously unreported body features including anomalies of the lungs, heart, liver, spleen, and abdominal vasculature. A description of this case will aid in comprehensive diagnosis of anomalies in patients with duplicated pituitary gland plus syndrome. Moreover, this case may improve understanding of the etiology of this rare disorder and its embryological underpinnings.
Craniovertebral junction (CVJ) instability, fixation, and stenosis in children are closely related conditions that are often challenging to diagnose and are associated with significant morbidity. Groups at higher risk for CVJ abnormalities include children with trisomy 21, juvenile idiopathic arthritis, upper respiratory infection or other inflammatory conditions of the head and neck, and certain skeletal dysplasias. Radiography, CT, and MRI play complementary roles in the evaluation of pathologic conditions of the CVJ. CVJ morphometry is helpful in characterizing osseous relationships and suggesting potential instability and/or neural compression. CT with multiplanar and three-dimensional volume-rendered reconstructions may be helpful in identifying (a) congenital anomalies associated with instability and/or neural canal narrowing; (b) disorders predisposing to atlantoaxial rotatory fixation (AARF), such as retropharyngeal inflammation in Grisel syndrome; and (c) acquired osseous abnormalities associated with irreducibility in children with chronic AARF (eg, facet deformity or new bone formation). Dynamic CT is particularly helpful for evaluating children with persistent torticollis that is refractory to initial conservative therapy. Early diagnosis and treatment of AARF are essential in reducing the likelihood of progression to chronic AARF. Performing CT angiography before C1-C2 fixation may help identify vascular variations that increase surgical risk and provide an opportunity for modification of the surgical plan. MRI is preferred for assessment of the hindbrain; upper cervical spinal cord; and nonossified structures such as cartilage, ligaments, and paravertebral soft tissues. The authors discuss normal development and anatomy, imaging evaluation, and disorders associated with CVJ instability, fixation, and stenosis in children. Imaging-related treatment considerations are also discussed. ©RSNA, 2025 Supplemental material is available for this article.
Pediatric advanced neuroimaging is an evolving field that enables continuous improvements in patient care through applications of cutting-edge techniques. Currently, many advanced pediatric neuroimaging modalities facilitate rapid, noninvasive, or functional assessments while improving image quality and decreasing ionizing radiation exposure and/or need for procedural sedation. This article provides an up-to-date review of current and developing MR and computed tomography pediatric neuroimaging techniques with increasing relevance to daily clinical practice.
Posttransplant lymphoproliferative disorder (PTLD) can mimic infectious processes in the head and neck. A high index of suspicion for PTLD must be maintained in pediatric transplant patients, and minimal response to antibiotics/corticosteroids should prompt timely biopsy of suspicious tissue to expedite the diagnosis and treatment of PTLD.
Die VAD (Dissektion der A. vertebralis) ist eine häufige Ursache für eine seltene Erkrankung, den PCAIS (pädiatrischer arterieller ischämischer Schlaganfall im hinteren Kreislauf des Gehirns). Sie kann zu einer fortschreitenden Arteriopathie und rezidivierenden Schlaganfällen führen. Die Autoren geben einen Überblick über die charakteristischen Bildgebungsmerkmale und die optimierte Bildgebung der VAD und des assoziierten PCAIS.
Diseases involving the pediatric masticator space often vary from those encountered in adults, with congenital abnormalities encountered more commonly and the assortment of benign and malignant neoplasms encountered differing in type and frequency. Familiarity with the imaging findings for these diseases is important for timely and accurate diagnosis and management. This article briefly reviews masticator space anatomy and provides detailed description of the imaging findings associated with benign and malignant diseases that may be encountered in the pediatric masticator space.
Low back pain (LBP) in the absence of acute trauma is a common pediatric presentation. Although LBP is frequently due to benign causes, red-flag signs and symptoms may indicate more serious causes, including infections, neoplasms, and inflammatory conditions, that necessitate more urgent management. MRI is the mainstay imaging test for the evaluation of pediatric LBP, and increased radiologist awareness of the imaging findings of key causes of pediatric LBP can expedite diagnosis and treatment and thereby decrease morbidity and mortality. Although imaging plays a key role in the diagnostic workup of LBP in the pediatric age group, imaging must be used judiciously, as excessive advanced imaging may be associated with unnecessary costs and additional patient risk without substantial positive effect on clinical outcome. In this AJR Expert Panel Narrative Review, we provide an overview of the appropriate use of imaging for the workup of a child presenting with LBP, highlighting the utility of different modalities, optimal imaging techniques, and advanced methods that may aid problem solving. We also review the classic imaging features of common and critical causes of LBP in this age group, focusing on pediatric-specific organic causes while addressing certain uncommon diagnoses that radiologists should not miss.
The vast array of acute nontraumatic diseases encountered in the head and neck of pediatric patients can be intimidating for radiologists in training in a fast-paced emergency setting. Although there is some overlap of pediatric and adult diseases, congenital lesions and developmental variants are much more common in the pediatric population. Furthermore, the relative incidences of numerous infections and neoplasms differ between pediatric and adult populations. Young patients and/or those with developmental delays may have clinical histories that are difficult to elicit or nonspecific presentations, underscoring the importance of imaging in facilitating accurate and timely diagnoses. It is essential that radiologists caring for children be well versed in pediatric nontraumatic head and neck emergency imaging. The authors provide an on-call resource for radiology trainees, organized by anatomic location and highlighting key points, pearls, pitfalls, and mimics of many acute nontraumatic diseases in the pediatric head and neck.
Splenic rupture in a neonate is a rare but potentially fatal condition that may trigger evaluation for child abuse. It is a diagnosis of exclusion that has been reported in the surgical literature but may be underrecognized by pediatric radiologists. We report a case of a newborn with an unremarkable prenatal, delivery, and nursery course who presented with anemia, abdominal distension, and lethargy. Abdominal ultrasound with Doppler and computed tomography (CT) of the head, cervical spine, chest, abdomen, and pelvis without contrast showed findings of splenic rupture and anoxic brain injury. An extensive workup for traumatic, infectious, coagulopathic, and congenital etiologies was unrevealing, leading to a presumptive diagnosis of spontaneous splenic rupture in a neonate.
The spectrum of congenital and infantile masses of the head and neck is broad, including developmental and neoplastic entities. The diseases encountered in this vulnerable patient population differ substantially from those in older children and adults. Familiarity with the types of encountered masses, typical imaging characteristics, and expected clinical course is critical for radiologists who care for pregnant women (fetuses) and infants. This knowledge allows radiologists to provide a timely diagnosis and appropriate follow-up imaging recommendations and, in some fetal imaging cases, inform delivery planning. This article uses a location-based approach to highlight imaging features of numerous common and rare congenital and infantile masses of the head and neck.
ObjectiveCochlear nerve deficiency (CND) is a common radiologic finding among unilateral sensorineural hearing loss (USNHL) patients. It is generally detected with magnetic resonance imaging (MRI), which is associated with higher cost, less availability, and possible need for sedation. Therefore, identifying computed tomography (CT) findings, such as cochlear aperture stenosis (CAS), that can reliably predict CND is valuable. Our study aimed to determine the prevalence of CND in pediatric patients with CT-diagnosed CAS. Study DesignRetrospective study. SettingTertiary care center. MethodsWe included pediatric patients diagnosed with CAS on temporal bone CT and with available temporal bone MRI. For each patient, an otolaryngologist and a pediatric neuroradiologist measured the cochlear aperture width on CT to confirm CAS (cochlear aperture < 1.4 mm) and assessed the status of the cochlear nerve on MRI. ResultsFifty-five patients, representing 65 ears, had CAS on CT measurement. Median cochlear aperture width in CAS ears was 0.70 mm (interquartile range [IQR]: 0.40-1.05 mm) versus 2.00 mm in non-CAS ears (IQR: 1.80-2.30 mm, P < .001). CND was found in 98.5% (n = 64/65) of CAS ears, while a normal cochlear nerve was found in 1.5% (n = 1/65) of CAS ears. ConclusionCND is highly prevalent among pediatric patients with CAS. This suggests that MRI may not be needed to assess for CND in USNHL patients with CAS, as initial CT may provide sufficient information to determine cochlear implant candidacy. We recommend thoughtful shared decision-making with parents of USNHL patients when determining whether to pursue MRI in the setting of a CAS diagnosis.
Macrocephaly, defined as a head circumference greater than 2 standard deviations above the mean, is a relatively common presenting symptom in the pediatric population at routine well-child examinations and a common indication for neuroimaging. Multiple imaging modalities are complementary in evaluating macrocephaly, including US, CT, and MRI. The differential diagnosis for macrocephaly is broad, and many disease processes lead to macrocephaly only when the sutures are open. In patients with closed sutures, these entities instead lead to increased intracranial pressure, according to the Monroe-Kellie hypothesis, which states that there is an equilibrium between intracranial constituents due to the fixed intracranial volume. The authors describe a useful paradigm for classifying macrocephaly by identifying which of the four components of the cranium (ie, cerebrospinal fluid, blood and vasculature, brain parenchyma, or calvarium) has an increased volume. Patient age, additional imaging findings, and clinical symptoms are also useful features. Most cases in the pediatric population are due to increased cerebrospinal fluid spaces, such as benign enlargement of the subarachnoid space, which must be carefully distinguished from subdural fluid collections in patients with accidental or nonaccidental trauma. Other common causes of macrocephaly are discussed, including hydrocephalus secondary to an aqueductal web, hemorrhage, or a neoplasm. The authors also provide information on some of the rarer diseases for which imaging may provide the impetus for genetic testing (eg, overgrowth syndromes and metabolic disorders). ©RSNA, 2023 Quiz questions for this article are available through the Online Learning Center.
Complications of cancer therapy in children can result in a spectrum of toxicities that can affect any organ system and result in a range of morbidity. Complications may occur at the initiation of therapy or years following treatment. Although childhood cancer remains rare, increasing survival rates means more children are living longer following their treatment. Radiologists often play an important role in the diagnosis and evaluation of these complications, and thus, awareness of their imaging findings is essential to guide management and avoid misdiagnosis. This second part of a 2-part review aims to illustrate the typical body imaging findings of cancer therapy-related toxicities, including both early and late treatment effects. The article also discusses the differential diagnosis of imaging findings, highlighting pearls and pitfalls in making the appropriate diagnosis.