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PURPOSE: Central nervous system (CNS) embryonal tumors are a diverse group of malignant tumors typically affecting pediatric patients that recently have been better defined, and this paper describes evolution of a unique type of embryonal tumor at relapse. METHODS: Two pediatric patients with CNS embryonal tumors with EWSR1-PLAGL1 rearrangements treated at Arkansas Children's Hospital with histopathologic and molecular data are described. RESULTS: These two patients at diagnosis were classified as CNS embryonal tumors with EWSR1-PLAGL1 rearrangements based on histologic appearance and molecular data. At relapse both patient's disease was reclassified as atypical teratoid rhabdoid tumor (ATRT) based on loss of INI-1, presence of SMARCB1 alterations, and methylation profiling results. CONCLUSION: CNS embryonal tumors with EWSR1-PLAGL1 rearrangements acquire or include a population of cells with SMARCB1 alterations that are the component that predominate at relapse, suggesting treatment aimed at this disease component at diagnosis should be considered.
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Neoplasias do Sistema Nervoso Central , Recidiva Local de Neoplasia , Neoplasias Embrionárias de Células Germinativas , Proteína EWS de Ligação a RNA , Proteína SMARCB1 , Feminino , Humanos , Masculino , Neoplasias do Sistema Nervoso Central/genética , Neoplasias do Sistema Nervoso Central/patologia , Rearranjo Gênico , Recidiva Local de Neoplasia/genética , Recidiva Local de Neoplasia/patologia , Neoplasias Embrionárias de Células Germinativas/genética , Neoplasias Embrionárias de Células Germinativas/patologia , Tumor Rabdoide/genética , Tumor Rabdoide/patologia , Proteína EWS de Ligação a RNA/genética , Proteína SMARCB1/genética , LactenteRESUMO
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. Antenatal diagnosis on obstetric ultrasound and evaluation with fetal MRI is ideal. Early postnatal diagnosis and/or detailed evaluation with MRI is essential for early management to improve outcomes. Pang classification categorizes caudal regression syndrome into two categories based on the position of the conus while Renshaw classification is based on the degree of vertebral column agenesis. Caudal regression syndrome may be associated with several additional anomalies, both spinal and extraspinal. A number of genitourinary and gastrointestinal anomalies have been described in association with caudal regression syndrome. The field of view of MRI of the lumbosacral spine in caudal regression syndrome needs to be extended to visualize the retroperitoneal structures without the use of a saturation band. Syndromic associations may be suspected, and additional imaging performed, based on findings of extended field of view MRI of the spine. Associated sacral masses and filar abnormalities need to be identified and may also require surgical treatment. The multisystem nature of this disease necessitates a multimodality approach to the evaluation and management of caudal regression syndrome with close cooperation between pediatric neuroradiologists and body radiologists as well as multiple clinical teams. Appropriate early management with surgical correction as necessary can significantly improve prognosis and survival in caudal regression syndrome.
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Imageamento por Ressonância Magnética , Humanos , Recém-Nascido , Síndrome , Imageamento por Ressonância Magnética/métodos , Feminino , Anormalidades Múltiplas/diagnóstico por imagem , Diagnóstico Pré-Natal/métodosRESUMO
BACKGROUND: Intracranial birth-related subdural hemorrhage frequently occurs in asymptomatic newborns and has no adverse long-term sequelae. It is medically and medicolegally important to differentiate birth-related subdural hemorrhage from other pathological causes of intracranial hemorrhage. There is limited literature available on the incidence of birth-related subdural hemorrhage, its imaging features, and evolution over time, mainly because asymptomatic infants do not routinely undergo cranial MRI. OBJECTIVE: To establish the incidence and distribution of birth-related subdural hemorrhage and evaluate their association with various modes of delivery, identify associated features, and evaluate the sequential evolution of signal changes of the birth-related hemorrhages on MRI. MATERIALS AND METHODS: A total of 200 healthy term neonates and young infants were included in this retrospective review study. All infants underwent MRI of the brain and cervical spine at postnatal age of 0-2 months with acquisition of a 3D T1-weighted (T1W), 3D or 2D T2-weighted (T2W), and axial diffusion-weighted imaging (DWI) sequences. The scans were evaluated for the presence and distribution of subdural hemorrhages, other intracranial hemorrhages, and associated injuries. Prevalence of intracranial hemorrhage in various modes of delivery was analyzed. Relationship between the signal intensities of the bleeds on T1W, T2W, and DWI scans and the age of the infants was analyzed. Appropriate tests were applied to test for statistical significance of the data. RESULTS: Out of 200 neonates, 66 (33%) had detectable intracranial hemorrhage on MRI with an age range of 11-25 days, including 31 (47%) males and 35 (53%) females. All of them had subdural hemorrhages, 54 (81.8%) of which were in the posterior fossa. Additional parenchymal hemorrhages were present in a few, but no subarachnoid hemorrhages, cervical spinal canal hemorrhages, cortical bridging vein injury, or cervical spinal ligamentous injury were identified within the limitations of the study. No detectable intracranial hemorrhage was found in subjects above 25 days of age. Overall incidence of subdural hemorrhage by mode of delivery was 8/68 (11.8%) in babies born by cesarean section and 58/132 (43.9%) in babies born by vaginal delivery. Among the vaginal deliveries, the highest incidence was observed in assisted vaginal delivery (19/30, 63.3%). Subjects with birth-related subdural hemorrhage were categorized into three age groups: <13 days, 13-21 days, and >21 days. All detected hemorrhages were T1W hyperintense. In the <13 days group, all bleeds were T2W hypointense. In the 13-21 days group, 73.1% were T2W hypointense, while 26.9% were T2W mixed. All bleeds in the >21 days group were T2W hypointense. All DWI hyperintense bleeds were found in the 13-21 days group. CONCLUSION: Birth-related subdural hemorrhage occurs in over a third of normal deliveries and has a characteristic distribution, predominantly in the posterior fossa. Associated cervical spinal subdural hemorrhages, cervical spinal ligamentous injury, or cortical bridging vein injury, which are concerning for traumatic etiology, were not identified. Birth-related subdural hemorrhages follow a characteristic pattern of signal changes on MRI. Although not completely reliable, this can help in differentiating them from traumatic intracranial hemorrhages which usually occur postnatally. No birth-related subdural hemorrhages were seen after 25 days of age in our cohort.
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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. Current imaging recommendations include brain magnetic resonance imaging with the addition of a susceptibility weighted imaging (SWI) sequence which can detect additional findings that suggest abusive head trauma including cortical venous injury and retinal hemorrhages. However, SWI is limited due to blooming artifacts and artifacts from the adjacent skull vault or retroorbital fat, which can affect the evaluation of retinal, subdural, and subarachnoid hemorrhages. This work explores the utility of the high-resolution, heavily T2 weighted balanced steady-state field precession (bSSFP) sequence to identify and characterize retinal hemorrhage and cerebral cortical venous injury in children with abusive head trauma. The bSSFP sequence provides distinct anatomical images to improve the identification of retinal hemorrhage and cortical venous injury.
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Lesões Encefálicas , Maus-Tratos Infantis , Traumatismos Craniocerebrais , Humanos , Criança , Lactente , Pré-Escolar , Hemorragia Retiniana/diagnóstico por imagem , Hemorragia Retiniana/etiologia , Traumatismos Craniocerebrais/complicações , Traumatismos Craniocerebrais/diagnóstico por imagem , Hematoma Subdural/diagnóstico por imagem , Maus-Tratos Infantis/diagnóstico , Estudos RetrospectivosRESUMO
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. These findings can be difficult to identify on autopsy because of the size and location of the ligaments. Because spinal injury in AHT mostly involves ligamentous and soft tissues and only rarely involves bony fractures, more than 90% of the injury findings are missed on CT or radiography of the spine. Investigation of these findings and the injury patterns should lead to a better understanding of the mechanism of spinal injury. In this pictorial review, we describe the various manifestations of spinal ligamentous injury in AHT, as seen on MRI, in children younger than 48 months.
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Maus-Tratos Infantis , Traumatismos Craniocerebrais , Traumatismos da Coluna Vertebral , Criança , Maus-Tratos Infantis/diagnóstico , Traumatismos Craniocerebrais/diagnóstico por imagem , Humanos , Lactente , Ligamentos , Imageamento por Ressonância Magnética , Traumatismos da Coluna Vertebral/diagnóstico por imagem , Coluna VertebralRESUMO
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. Detection of linear skull fractures can be difficult on two-dimensional (2-D) CT and can be missed, particularly when the fracture is along the plane of image reconstruction. Knowledge of primary and accessory sutures as well as normal anatomical variants is of paramount importance in identifying pediatric skull fractures with a greater degree of confidence. Acute fractures appear as lucent cortical defects that do not have sclerotic borders, in contrast to sutures, which might demonstrate sclerotic margins. Three-dimensional (3-D) CT has increased sensitivity and specificity for detecting skull fractures and is essential in the evaluation of pediatric head CTs for distinguishing subtle fractures from sutural variants, especially in the setting of trauma. In this review, we present our experience of the use of 3-D reformats in head CT and its implications on the interpretation, especially in the setting of accidental or abusive head trauma.
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Maus-Tratos Infantis , Traumatismos Craniocerebrais , Fraturas Cranianas , Criança , Maus-Tratos Infantis/diagnóstico , Traumatismos Craniocerebrais/diagnóstico por imagem , Humanos , Lactente , Estudos Retrospectivos , Fraturas Cranianas/diagnóstico por imagem , Tomografia Computadorizada por Raios XRESUMO
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. This pictorial review describes the normal appearance of spinal SDH and challenges of identifying spinal SDH, and it explores the mechanism of spinal SDH development in AHT.
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Maus-Tratos Infantis , Traumatismos Craniocerebrais , Criança , Maus-Tratos Infantis/diagnóstico , Traumatismos Craniocerebrais/diagnóstico por imagem , Feminino , Hematoma Subdural/diagnóstico por imagem , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Estudos RetrospectivosRESUMO
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. In this article, we review the traumatic subdural hematoma as well as various morpho-structural patterns of shearing injuries and thrombosis of intracranial bridging veins. This work serves as a summary of patterns of imaging features of intracranial venous injury in AHT, as described in the literature, to facilitate familiarity and early detection of abusive head trauma in the pediatric population. Essentially, in AHT there is a traumatic injury to the bridging vein with either partial or complete tear. This can secondarily result in thrombosis at the terminal end of the bridging vein with blood clots adjacent to the bridging vein.
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Maus-Tratos Infantis , Traumatismos Craniocerebrais , Lesões do Sistema Vascular , Criança , Maus-Tratos Infantis/diagnóstico , Traumatismos Craniocerebrais/diagnóstico por imagem , Hematoma Subdural/diagnóstico por imagem , Humanos , Lactente , Estudos RetrospectivosRESUMO
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. Although a characteristic 'starry sky' appearance of the thymus has been described on ultrasound, it is not considered sufficiently specific and cross-sectional imaging with magnetic resonance imaging is usually performed. On magnetic resonance imaging, the ectopic thymus appears as a homogeneous T1 isointense and T2 hyperintense mass and may actually appear ominous due to the tendency of ectopic thymus to sometimes show diffusion restriction unlike the normal thymus. Subsequent invasive biopsy or surgical removal is usually necessary to rule out a neoplastic lesion. In our observation, the ultrasound appearance of thymus is sufficiently distinctive to be confidently diagnosed as ectopic thymic tissue. This appearance is similar to the high-resolution appearance of an embroidery yarn. The reason most radiologists are not aware of the same is because the normal mediastinal thymus is not usually imaged by ultrasound. Conclusion: An accurate diagnosis on ultrasound would mean avoidance of expensive cross-sectional imaging and invasive biopsy or surgical excision in favour of regular non-invasive follow-up ultrasound scans until the lesion involutes in late childhood.
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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. Though the perioptic space can be evaluated using various imaging modalities, MRI is considered highly effective due to its superior soft tissue resolution. With advancement in MR imaging techniques, high-resolution images of the orbits can provide improved visualization of the perioptic space. It is imperative for the pediatric radiologist to routinely assess the perioptic space on brain and orbit MR imaging, as it can prompt exploration for additional features associated with select intracranial pathologies, thus improving diagnostic accuracy. This article reviews basic anatomy of the perioptic space, current understanding of the CSF dynamics between the perioptic space and central nervous system SAS, various imaging modalities utilized in the assessment of the perioptic space, MRI sequences and the optimal parameters of specific sequences, normal appearance of the perioptic space on MR imaging, and various common pediatric pathologies which cause alteration in the perioptic space.
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Imageamento por Ressonância Magnética , Humanos , Criança , Imageamento por Ressonância Magnética/métodos , Espaço Subaracnóideo/diagnóstico por imagem , Nervo Óptico/diagnóstico por imagemRESUMO
Arachnoid cysts are the most common incidentally discovered intracranial lesions on imaging and the most common cystic intracranial lesions. They may be developmental or secondary. A relative lack of recent literature and any comprehensive radiological review on arachnoid cysts has led to a general lack of awareness among radiologists of symptomatic or complicated arachnoid cysts. This is particularly concerning in pediatric patients. While arachnoid cysts are asymptomatic in most cases, they can cause clinical symptoms in a minority of cases, especially when they occur in unusual sites. These include intraventricular locations where they may cause hydrocephalus, the basal cisterns where they may compress cranial nerves, the cerebellopontine angle where they have to be differentiated from a number of cystic lesions, the cavum septum pellucidum or cavum velum interpositum, the choroid fissure where they can entrap the temporal horn and compress the hippocampus, the posterior fossa where they need to be differentiated from other posterior fossa cystic lesions, and within the spinal canal where there is a concern for cord or nerve root compression. Larger cysts are more prone to complications such as mass effect, hemorrhage, and rupture. Hemorrhage and rupture often present with acute symptoms. Ruptured cysts lose their characteristic imaging appearance and can mimic several ominous pathologies. It therefore becomes vital to accurately diagnose these cases as complications of pre-existing arachnoid cysts for appropriate management. A detailed review of all diagnostic imaging aspects of arachnoid cysts will help fill in the existing information void on this important entity.
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Veia Cava Inferior/anormalidades , Trombose Venosa/etiologia , Criança , Humanos , Fígado , MasculinoRESUMO
Cowper's gland syringocele is an uncommon, underdiagnosed cystic dilatation of Cowper's gland ducts showing various radiological patterns. Herein we report a rare case of giant Cowper's gland syringocele in an adult male patient, with description of MRI findings and management outcome.
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Neuropathies caused by jellyfish stings are extremely rare and poorly studied. A 20-year-old female patient was stung on the volar aspect of the right forearm by an unidentified species of jellyfish. Local cutaneous reaction was followed within few days by severe median mononeuropathy, involving the motor and sensory branches to the hand and forearm but sparing the palmar branch. The patient had neuropathic pain relieved by pregabaline. Electrodiagnostic studies confirmed a demyelinating lesion. Ultrasound and magnetic resonance imaging of the median nerve revealed uniform swelling with mild uptake of contrast along the forearm. Within 2 months, strength improved significantly, pain subsided, and numbness partially resolved. Literature review and discussion of the possible mechanisms and implications of this rare effect of marine animal envenomation is presented. Jellyfish sting may cause focal mononeuropathies most probably because of the local effects of the toxins.