Ectopic cervical thymus: Recognising the characteristic 'embroidery yarn' appearance on ultrasound.

Introduction: The thymus normally forms in the neck from the third pharyngeal pouch and descends to its normal position in the mediastinum. Arrest of descent or sequestration of thymic tissue can occur at any point along its path leading to an ectopic thymus which can present as a neck mass, usually in the paediatric age group.

Purpose And Case Report: Ultrasound is generally performed in the presence of a neck mass in children.

Transmembrane protein 53 craniotubular dysplasia (OMIM # 619727): The skeletal disease and consequent blindness of this new disorder.

Craniotubular dysplasia, Ikegawa type (OMIM #619727) denotes the autosomal recessive skeletal disease identified in 2021 featuring blindness acquired in childhood. Five young members of four Indian families harbored a homozygous indel within TMEM53 (OMIM *619722), the gene that encodes transmembrane protein 53 (TMEM53). When intact, TMEM53 spans the nuclear envelope of osteoprogenitor cells, dampens BMP-SMAD signaling, and thereby slows bone formation.

Clinical and radiological evaluation of caudal regression syndrome.

Caudal regression syndrome is a form of segmental spinal dysgenesis involving the caudal spinal column, ranging from segmental coccygeal agenesis to extensive thoracolumbar agenesis with varying degrees of spinal cord dysgenesis. A majority of caudal regression cases are sporadic but maternal pre-gestational diabetes mellitus is an important risk factor. Imaging is an integral part of management of caudal regression syndrome.

Collapse or distention of the perioptic space in children - What does it mean to pediatric radiologists? Comprehensive review of perioptic space evaluation.

The perioptic space comprises the subarachnoid space [SAS] of the optic nerve communicating with the SAS of the central nervous system. Pressure variations in the SAS of the central nervous system can be transmitted to the optic papilla through the perioptic space. Variations in the diameter of the perioptic space serve as an important indicator for select intracranial pathologies in the pediatric population.

Neonatal osteoblastic tumor with a novel PTBP1::FOSB fusion.

Congenital/neonatal bone neoplasms are extremely rare. We present the case of a patient with a neonatal bone tumor of the fibula that had osteoblastic differentiation and a novel PTBP1::FOSB fusion. FOSB fusions are described in several different tumor types, including osteoid osteoma and osteoblastoma; however, these tumors typically present in the second or third decade of life, with case reports as young as 4 months of age.

Utility of balanced steady-state field precession sequence in the evaluation of retinal and subdural hemorrhages in patients with abusive head trauma.

Abusive head trauma is the leading cause of physical child abuse deaths in children under 5 years of age in the United States. To evaluate suspected child abuse, radiologic studies are typically the first to identify hallmark findings of abusive head trauma including intracranial hemorrhage, cerebral edema, and ischemic injury. Prompt evaluation and diagnosis are necessary as findings may change rapidly.

Imaging of pediatric calvarial and skull base tumors: A COG Diagnostic Imaging Committee/SPR Oncology Committee/ASPNR White Paper.

A standardized imaging protocol for pediatric oncology patients is essential for accurate and efficient imaging, while simultaneously promoting collaborative understanding of pathologies and radiologic assessment of treatment response. The objective of this article is to provide standardized pediatric imaging guidelines and parameters for evaluation of tumors of the pediatric orbit, calvarium, skull base, and temporal bone. This article was drafted based on current scientific literature as well as consensus opinions of imaging experts in collaboration with the Children's Oncology Group Diagnostic Imaging Committee, Society of Pediatric Radiology Oncology Committee, and American Society of Pediatric Neuroradiology.

Mother's physical activity during pregnancy and newborn's brain cortical development.

Background: Physical activity is known to improve mental health, and is regarded as safe and desirable for uncomplicated pregnancy. In this novel study, we aim to evaluate whether there are associations between maternal physical activity during pregnancy and neonatal brain cortical development.

Methods: Forty-four mother/newborn dyads were included in this longitudinal study.

Maternal Obesity during Pregnancy is Associated with Lower Cortical Thickness in the Neonate Brain.

Background And Purpose: Recent studies have suggested that maternal obesity during pregnancy is associated with differences in neurodevelopmental outcomes in children. In this study, we aimed to investigate the relationships between maternal obesity during pregnancy and neonatal brain cortical development.

Materials And Methods: Forty-four healthy women (28 normal-weight, 16 obese) were prospectively recruited at <10 weeks' gestation, and their healthy full-term neonates (23 boys, 21 girls) underwent brain MR imaging.

Impact of a statewide computed tomography scan educational campaign on radiation dose and repeat CT scan rates for transferred injured children.

Purpose: Research demonstrates that children receive twice as much medical radiation from Computed Tomography (CT) scans performed at non-pediatric facilities as equivalent CTs performed at pediatric trauma centers (PTCs). In 2014, AFMC outreach staff educated Emergency Department (ED) staff on appropriate CT imaging utilization to reduce unnecessary medical radiation exposure. We set out to determine the educational campaign's impact on injured children received radiation dose.

Case Report: -Associated Syndrome Overlapping With Clinical Mitochondrial Disease Presentation: Report of Two Cases.

-associated syndrome (SAS) is an autosomal dominant neurogenetic multisystemic disorder. We describe two individuals with global developmental delay and hypotonia who underwent an extensive evaluation to rule out an underlying mitochondrial disorder before their eventual diagnosis of SAS. Although the strict application of the clinical mitochondrial disease score only led to the designation of "possible" mitochondrial disorder for these two individuals, other documented abnormalities included nonspecific neuroimaging findings on magnetic resonance imaging and magnetic resonance spectroscopy, decreased complex I activity on muscle biopsy for patient 2, and variation in the size and relative proportion of types of muscle fibers in the muscle biopsies that were aligned with mitochondrial diseases.

Spinal subdural hemorrhage in abusive head trauma: a pictorial review.

A growing body of evidence links abusive head trauma (AHT) to patterns of direct and indirect spinal injuries, such as spinal subdural hemorrhage (SDH). Identification of evidence of spinal injury such as spinal SDH plays a crucial role in the diagnosis and subsequent management of the index child with AHT and his or her siblings. In a value-based practice of medicine, it can be argued that adding spine imaging to identify spinal SDH in the workup of AHT adds value to both the short- and long-term management of the patient.

Spinal ligamentous injury in abusive head trauma: a pictorial review.

There is growing evidence of spine injury in abusive head trauma (AHT). Historically, spine injury was considered rare in AHT because of a lack of attributable clinical symptoms or signs and a lack of advanced imaging. Increased use of MRI in AHT has been instrumental in helping identify evidence of ligamentous injuries of the spine.

Venous injury in pediatric abusive head trauma: a pictorial review.

Abusive head trauma (AHT) is the leading cause of fatal head injuries in children younger than 2 years. An intracranial pathology can exist even in the setting of a normal physical exam. A delay in the diagnosis of AHT can have serious life-threatening consequences for the child and increases the potential the child will be abused again.

Utility of three-dimensional and reformatted head computed tomography images in the evaluation of pediatric abusive head trauma.

Skull fractures are common in the pediatric population following head trauma and are estimated to occur post head trauma in 11% of children younger than 2 years. A skull fracture indicates potential underlying intracranial injury and might also help explain the mechanism of injury. Multiple primary and accessory sutures complicate the identification of non-depressed fractures in children younger than 2 years.

Early-Onset Parkinsonism and Halo Sign: Beta-propeller Proteinassociated Neurodegeneration.

A 13-year-old girl with infantile-onset self-resolving epilepsy and developmental delay had an unremarkable workup, including normal brain magnetic resonance imaging (MRI) and chromosomal microarray. During adolescence, she presented with features of early-onset parkinsonism: gait dyspraxia, freezing during walking, cogwheel rigidity in both upper extremities, and left arm dystonia. Repeat brain MRI showed iron deposition on the substantia nigra (SN) and basal ganglia, with hyperintense halo sign around a central linear hypointensity within the SN on the T1 imaging sequence.