ACR Appropriateness Criteria® Soft Tissue Vascular Anomalies: Vascular Malformations and Infantile Vascular Tumors (Non-CNS)-Child.

Soft tissue vascular anomalies may be composed of arterial, venous, and/or lymphatic elements, and diagnosed prenatally or later in childhood or adulthood. They are divided into categories of vascular malformations and vascular tumors. Vascular malformations are further divided into low-flow and fast-flow lesions. A low-flow lesion is most common, with a prevalence of 70%. Vascular tumors may behave in a benign, locally aggressive, borderline, or malignant manner. Infantile hemangioma is a vascular tumor that presents in the neonatal period and then regresses. The presence or multiple skin lesions in an infant can signal underlying visceral vascular anomalies, and complex anomalies may be associated with overgrowth syndromes. The American College of Radiology Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed annually by a multidisciplinary expert panel. The guideline development and revision process support the systematic analysis of the medical literature from peer reviewed journals. Established methodology principles such as Grading of Recommendations Assessment, Development, and Evaluation or GRADE are adapted to evaluate the evidence. The RAND/UCLA Appropriateness Method User Manual provides the methodology to determine the appropriateness of imaging and treatment procedures for specific clinical scenarios. In those instances where peer reviewed literature is lacking or equivocal, experts may be the primary evidentiary source available to formulate a recommendation.

Visualization of the fetal anus by prenatal ultrasound for the diagnosis of anorectal malformations: is it feasible?

PURPOSE: The goal of this study was to determine the feasibility of identifying the anal dimple (AD) on routine prenatal ultrasound. Using the presence, absence, appearance, and location of the anal dimple as an indirect sign for possible underlying anorectal malformations (ARM), we hypothesize that evaluation of the anal dimple as part of the fetal anatomic survey may increase the sensitivity in detecting less severe ARMs. METHODS: In a prospective longitudinal observational study, pregnant women who underwent prenatal ultrasound (US) at the Colorado Fetal Care Center between January 2019 and 2020 were enrolled. The variables recorded included gestational age, singleton versus multiple pregnancy, gender of the fetus, visualization of the AD, and reason for non-visualization of the AD. RESULTS: A total of 900 ultrasounds were performed, evaluating 1044 fetuses, in 372 different pregnant women. Gestational ages ranged from 16 to 38 weeks. The AD was visualized in 612 fetuses (58.6%) and not seen in 432 (41.4%). The two most common reasons for non-visualization were extremes in gestational age (n = 155; 36%) and fetal position (n = 152; 35.3%). The optimal gestational age range for AD visualization was 28-33 weeks + 6 days, with 78.1% visualization rate. CONCLUSION: Visualization of the anal dimple by ultrasound is feasible and may aid in the detection of less severe ARMs, ultimately impacting pregnancy management and family counseling. The optimal timing for anal dimple visualization is late second and third trimester.

Imaging phenotype correlation with molecular and molecular pathway defects in malformations of cortical development.

The increase in understanding of molecular biology and recent advances in genetic testing have caused rapid growth in knowledge of genetic causes of malformations of cortical development. Imaging diagnosis of malformations of cortical development can be made prenatally in a large subset of fetuses based on the presence of specific deviations from the normal pattern of development, characteristic imaging features, and associated non-central-nervous-system (CNS) abnormalities. In this review the authors discuss the role of four key cell molecules/molecular pathways in corticogenesis that are frequently implicated in complex prenatally diagnosed malformations of cortical development. The authors also list the currently described genes causing defects in these molecules/molecular pathways when mutated, and the constellation of imaging findings resultant of such defects.

Response assessment in diffuse intrinsic pontine glioma: recommendations from the Response Assessment in Pediatric Neuro-Oncology (RAPNO) working group.

Optimising the conduct of clinical trials for diffuse intrinsic pontine glioma involves use of consistent, objective disease assessments and standardised response criteria. The Response Assessment in Pediatric Neuro-Oncology working group, consisting of an international panel of paediatric and adult neuro-oncologists, clinicians, radiologists, radiation oncologists, and neurosurgeons, was established to address issues and unique challenges in assessing response in children with CNS tumours. A working group was formed specifically to address response assessment in children and young adults with diffuse intrinsic pontine glioma and to develop a consensus on recommendations for response assessment. Response should be assessed using MRI of brain and spine, neurological examination, and anti-inflammatory or antiangiogenic drugs. Clinical imaging standards are defined. As with previous consensus recommendations, these recommendations will need to be validated in prospective clinical trials.

Dysplastic megalencephaly phenotype presenting with prenatal high-output cardiac failure.

Dysplastic megalencephaly, also known as bilateral hemimegalencephaly, is a rare cerebral malformation characterized by bilateral cerebral hemisphere overgrowth and extensive malformation of cortical development. Affected patients present clinically with intractable seizures, severe neurological impairment and global developmental delay. There is a small body of literature reporting megalencephaly's association with neonatal high-output cardiac failure and a lack of literature describing prenatal findings. We report a case of dysplastic megalencephaly presenting with progressive high-output cardiac failure during fetal life. Prenatal and postnatal imaging findings as well as neonatal course are described. A companion case with similar imaging findings will help illustrate the prenatal imaging characteristics of this association. Knowledge of this potential complication related to dysplastic megalencephaly may help guide parental counseling and obstetric management.

Clinical assessment and brain findings in a cohort of mothers, fetuses and infants infected with ZIKA virus.

BACKGROUND: Congenital Zika virus (ZIKV) infection can be detected in both the presence and absence of microcephaly and manifests as a number of signs and symptoms that are detected clinically and by neuroimaging. However, to date, qualitative and quantitative measures for the purpose of diagnosis and prognosis are limited. OBJECTIVES: Main objectives of this study conducted on fetuses and infants with confirmed congenital Zika virus infection and detected brain abnormalities were (1) to assess the prevalence of microcephaly and the frequency of the anomalies that include a detailed description based on ultrasound and magnetic resonance imaging in fetuses and ultrasound, magnetic resonance imaging, and computed tomography imaging postnatally, (2) to provide quantitative measures of fetal and infant brain findings by magnetic resonance imaging with the use of volumetric analyses and diffusion-weighted imaging, and (3) to obtain additional information from placental and fetal histopathologic assessments and postnatal clinical evaluations. STUDY DESIGN: This is a longitudinal cohort study of Zika virus-infected pregnancies from a single institution in Colombia. Clinical and imaging findings of patients with laboratory-confirmed Zika virus infection and fetal brain anomalies were the focus of this study. Patients underwent monthly fetal ultrasound scans, neurosonography, and a fetal magnetic resonance imaging. Postnatally, infant brain assessment was offered by the use of ultrasound imaging, magnetic resonance imaging, and/or computed tomography. Fetal head circumference measurements were compared with different reference ranges with <2 or <3 standard deviations below the mean for the diagnosis of microcephaly. Fetal and infant magnetic resonance imaging images were processed to obtain a quantitative brain volumetric assessment. Diffusion weighted imaging sequences were processed to assess brain microstructure. Anthropometric, neurologic, auditory, and visual assessments were performed postnatally. Histopathologic assessment was included if patients opted for pregnancy termination. RESULTS: All women (n=214) had been referred for Zika virus symptoms during pregnancy that affected themselves or their partners or if fetal anomalies that are compatible with congenital Zika virus syndrome were detected. A total of 12 pregnant patients with laboratory confirmation of Zika virus infection were diagnosed with fetal brain malformations. Most common findings that were assessed by prenatal and postnatal imaging were brain volume loss (92%), calcifications (92%), callosal anomalies (100%), cortical malformations (89%), and ventriculomegaly (92%). Results from fetal brain volumetric assessment by magnetic resonance imaging showed that 1 of the most common findings associated with microcephaly was reduced supratentorial brain parenchyma and increased subarachnoid cerebrospinal fluid. Diffusion weighted imaging analyses of apparent diffusion coefficient values showed microstructural changes. Microcephaly was present in 33.3-58.3% of the cases at referral and was present at delivery in 55.6-77.8% of cases. At birth, most of the affected neonates (55.6-77.8%) had head circumference measurements >3 standard deviations below the mean. Postnatal imaging studies confirmed brain malformations that were detected prenatally. Auditory screening results were normal in 2 cases that were assessed. Visual screening showed different anomalies in 2 of the 3 cases that were examined. Pathologic results that were obtained from 2 of the 3 cases who opted for termination showed similar signs of abnormalities in the central nervous system and placental analyses, including brain microcalcifications. CONCLUSION: Congenital microcephaly is not an optimal screening method for congenital Zika virus syndrome, because it may not accompany other evident and preceding brain findings; microcephaly could be an endpoint of the disease that results from progressive changes that are related to brain volume loss. Long-term studies are needed to understand the clinical and developmental relevance of these findings.

Extrafetal Findings on Fetal Magnetic Resonance Imaging: A Pictorial Essay.

Although US is the mainstay of fetal imaging, magnetic resonance imaging (MRI) has become an invaluable adjunct in recent years. MRI offers superb soft tissue contrast that allows for detailed evaluation of fetal organs, particularly the brain, which enhances understanding of disease severity. MRI can yield results that are similar to or even better than those of US, particularly in cases of marked oligohydramnios, maternal obesity, or adverse fetal positioning. Incidentally detected extrafetal MRI findings are not uncommon and may affect clinical care. Physicians interpreting fetal MRI studies should be aware of findings occurring outside the fetus, including those structures important for the pregnancy. A systematic approach is necessary in the reading of such studies. This helps to ensure that important findings are not missed, appropriate clinical management is implemented, and unnecessary follow-up examinations are avoided. In this pictorial essay, the most common extrafetal abnormalities are described and illustrated.

Fetal MRI of cloacal exstrophy.

BACKGROUND: Prenatal ultrasonographic (US) diagnosis of cloacal exstrophy (CE) is challenging. OBJECTIVE: To define the fetal MRI findings in CE. MATERIALS AND METHODS: We performed a retrospective review of eight patients with CE. Imaging was performed between 22 weeks and 36 weeks of gestation with US in four and MRI in eight fetuses. Abdominal wall, gastrointestinal/genitourinary, and spine and limb abnormalities detected were compared with postnatal evaluation. RESULTS: US failed to display CE in one of the four fetuses. Fetal MRI confirmed CE in all eight fetuses by demonstrating absence of a normal bladder and lack of meconium-filled rectum/colon, associated with protuberant pelvic contour and omphalocele. These findings correlated postnatally with CE, atretic hindgut and omphalocele. One fetus had imaging before rupture of the cloacal membrane, showing a protruding pelvic cyst. Absent bladder was noted in the remaining seven fetuses. Confirmed skin-covered spinal defects were noted in seven fetuses, low conus/tethered cord in one and clubfoot in three. Six fetuses had renal anomalies, two had hydrocolpos and one had ambiguous genitalia. CONCLUSION: Fetal MRI provides a confident diagnosis of CE when a normal bladder is not identified, there is a protuberant abdominopelvic contour and there is absence of meconium-filled rectum and colon. Genitourinary and spinal malformations are common associations.

Prenatal imaging of amniotic band sequence: utility and role of fetal MRI as an adjunct to prenatal US.

BACKGROUND: Amniotic band sequence and its US manifestations have been well-described. There is little information, however, regarding the accuracy and utility of fetal MRI. OBJECTIVE: To describe the MRI findings in amniotic band sequence and to compare the diagnostic accuracy of MRI and US. MATERIALS AND METHODS: Prenatal MRI and US studies were retrospectively reviewed in 14 consecutive pregnancies with confirmed amniotic band sequence. Both studies were evaluated for amniotic band visualization, body part affected, type of deformity, umbilical cord involvement and vascular abnormality. RESULTS: Amniotic bands were confidently identified with MRI in 8 fetuses (57%), suggested with MRI in 3 fetuses (21%) and confidently seen by US in 13 fetuses (93%). Neither modality detected surgically proven bands on one fetus. Both techniques were equally able to define the body part affected and the type of deformity. At least one limb abnormality was visualized in all cases and truncal involvement was present in two cases. Cord involvement was identified in seven cases, with one case detected only by MRI. CONCLUSION: Fetal MRI is able to visualize amniotic bands and their secondary manifestations and could be complementary to prenatal US when fetal surgery is contemplated.

Prenatal MRI findings of fetuses with congenital high airway obstruction sequence.

OBJECTIVE: To define the MRI findings of congenital high airway obstruction sequence (CHAOS) in a series of fetuses. MATERIALS AND METHODS: Prenatal fetal MR images were reviewed in seven fetuses with CHAOS at 21 to 27 weeks of gestation. The MRI findings were reviewed. The MRI parameters evaluated included the appearance of the lungs and diaphragm, presence or absence of hydrops, amount of amniotic fluid, airway appearance, predicted level of airway obstruction, and any additional findings or suspected genetic syndromes. RESULTS: All the fetuses viewed (7 of 7) demonstrated the following MRI findings: dilated airway below the level of obstruction, increased lung signal, markedly increased lung volumes with flattened or inverted hemidiaphragms, massive ascites, centrally positioned and compressed heart, as well as placentomegaly. Other frequent findings were anasarca (6 of 7) and polyhydramnios (3 of 7). MRI identified the level of obstruction as laryngeal in five cases and tracheal in two cases. In four of the patients, surgery or autopsy confirmed the MRI predicted level of obstruction. Associated abnormalities were found in 4 of 7 (genetic syndromes in 2). Postnatal radiography (n = 3) showed markedly hyperinflated lungs with inverted or flattened hemidiaphragms, strandy perihilar opacities, pneumothoraces and tracheotomy. Two fetuses were terminated and one fetus demised in utero. Four fetuses were delivered via ex utero intrapartum treatment procedure. CONCLUSION: MRI shows a consistent pattern of abnormalities in fetuses with CHAOS, accurately identifies the level of airway obstruction, and helps differentiate from other lung abnormalities such as bilateral congenital pulmonary airway malformation by demonstrating an abnormally dilated airway distal to the obstruction.

The frequency of lingual tonsil enlargement in obese children.

OBJECTIVE: Enlargement of the lingual tonsils is being increasingly recognized as a not uncommon and treatable cause of obstructive sleep apnea, particularly in patients with Down syndrome who have undergone palatine tonsillectomy and adenoidectomy. We have recognized an increasing number of patients who are obese and have obstructive sleep apnea with enlarged lingual tonsils. The purpose of this study was to evaluate the frequency of enlarged lingual tonsils in obese children. SUBJECTS AND METHODS: Seventy-one obese children (mean body mass index = 41.6 kg/m(2)) underwent sagittal fast spin-echo inversion recovery imaging. Lingual tonsils were identified and measured in the greatest anteroposterior diameter. Lingual tonsils > 10 mm were considered markedly enlarged. The subgroup with absent palatine tonsils (previous tonsillectomy) (n = 41) were compared with those with palatine tonsils present (n = 30). RESULTS: Forty-four (62%) of the obese children had measurable lingual tonsils, which is greater than the frequency previously reported in normal subjects (0%), subjects with obstructive sleep apnea (33%), or subjects with Down syndrome and obstructive sleep apnea (50%). Ten (14%) had lingual tonsils > 10 mm. Obese subjects with absent palatine tonsils (previous tonsillectomy) had a higher prevalence of measurable lingual tonsils than those with palatine tonsils (78% vs 22%, respectively; p < 0.001) and a higher prevalence of lingual tonsils > 10 mm (90% vs 10%, p < 0.001). CONCLUSION: Obese children have a high frequency of enlargement of the lingual tonsils with a significantly higher prevalence in those with previous tonsillectomy. Enlarged lingual tonsils may play a role in the pathogenesis of obstructive sleep apnea in obese children.

CT findings for blebs and bullae in children with spontaneous pneumothorax and comparison with findings in normal age-matched controls.

BACKGROUND: Spontaneous pneumothorax (SPTX) is a relatively common condition. In patients with SPTX, CT has been advocated to identify blebs and bullae (BB) to help in management planning. PURPOSE: The study was designed to assess our experience with CT evaluation for underlying BB in children with SPTX as compared to normal controls. MATERIALS AND METHODS: Forty-three children (mean age 16 years, range 13-19 years) with 50 SPTX events with both chest radiographs and CT scans were reviewed. CT findings were compared with those seen in 29 age- and gender-matched controls without SPTX. The parameters evaluated included size, number, location, and ipsi-/contralateral BB; apical lines; and surgical correlation. RESULTS: In the study group, BB were identified in 14 imaged events (28%) (size 2.5-45 mm, one to six BB) with contralateral BB in 11 of the 14 (78.6%). All BB were confined to the apices. BB were sometimes difficult to differentiate from "apical lines"--a suspected normal variant seen in 28 imaged events (56%). Of blebs seen at surgery, 59% were identified on CT, and there were no false-positive CT findings. In the control group, no BB were identified but "apical lines" were seen in eight children (28%). CONCLUSION: BB were seen by CT in 28% of imaged events in children with SPTX and were always confined to the apices. When present, BB were commonly bilateral (78.6%). BB should not be confused with "apical lines," which were not only seen in 56% of imaged events in the SPTX group but also in 28% of the normal controls.

Epidemiologia dos tumores do sistema nervoso central, Hospital Nossa Senhora de Pompéia, Serviço de Neurocirurgia. A propósito de 100 casos estudados / Epidemiology of central nervous system tumors, Nossa Senhora de Pompéia Hospital, Neurosurgery's service, about 100 studies cases

As neoplasias intracranianas säo uma das principais causas de morte entre a populaçäo em geral, tendo um aumento nas taxas de mortalidade proporcional ao aumento da idade do paciente. No total, estima-se que o câncer do SNC compreende 1,1 por cento dos tumores malignos de ocorrência recente, sendo a terceira causa de mortes entre os 15 e 34 anos de idade e a quarta em homens entre 35 e 54 anos. Será discutida a epidemiologia e apresentada uma revisäo bibliográfica dos casos selecionados com neoplasias intracranianas no Hospital Nossa Senhora de Pompéia (HNSP) de Caxias do Sul (RS), no período de 1992 a 2000.