Diffusion Tensor Imaging Detects Occult Cerebellar Injury in Severe Neonatal Hypoxic-Ischemic Encephalopathy.

BACKGROUND: Despite the benefits of whole-body hypothermia therapy, many infants with hypoxic-ischemic encephalopathy (HIE) die or have significant long-term neurodevelopmental impairment. Prospectively identifying neonates at risk of poor outcome is essential but not straightforward. The cerebellum is not classically considered to be a brain region vulnerable to hypoxic-ischemic insults; recent literature suggests, however, that the cerebellum may be involved in neonatal HIE. In this study, we aimed to assess the microstructural integrity of cerebellar and linked supratentorial structures in neonates with HIE compared to neurologically healthy neonatal controls. METHODS: In this prospective cohort study, we performed a quantitative diffusion tensor imaging (DTI) analysis of the structural pathways of connectivity, which may be affected in neonatal cerebellar injury by measuring fractional anisotropy (FA) and mean diffusivity (MD) within the superior, middle, and inferior cerebellar peduncles, dentate nuclei, and thalami. All magnetic resonance imaging (MRI) studies were grouped into 4 categories of severity based on a qualitative evaluation of conventional and advanced MRI sequences. Multivariable linear regression analysis of cerebellar scalars of patients and controls was performed, controlling for gestational age, age at the time of MRI, and HIE severity. Spearman rank correlation was performed to correlate DTI scalars of the cerebellum and thalami. RESULTS: Fifty-seven (23 females, 40%) neonates with HIE and 12 (6 females, 50%) neonatal controls were included. There were 8 patients (14%) in HIE severity groups 3 and 4 (injury of the basal ganglia/thalamus and/or cortex). Based on a qualitative analysis of conventional and DTI images, no patients had evidence of cerebellar injury. No significant differences between patients and controls were found in the FA and MD scalars. However, FA values of the middle cerebellar peduncles (0.294 vs. 0.380, p < 0.001) and MD values of the superior cerebellar peduncles (0.920 vs. 1.007 × 10-3 mm/s2, p = 0.001) were significantly lower in patients with evidence of moderate or severe injury on MRI (categories 3 and 4) than in controls. In patients, cerebellar DTI scalars correlated positively with DTI scalars within the thalami. CONCLUSION: Our results suggest that infants with moderate-to-severe HIE may have occult injury of cerebellar white-matter tracts, which is not detectable by the qualitative analysis of neuroimaging data alone. Cerebellar DTI scalars correlate with thalamic measures, highlighting that cerebellar injury is unlikely to occur in isolation and may reflect the severity of HIE. The impact of concomitant cerebellar injury in HIE on long-term neurodevelopmental outcome warrants further study.

Sensitivity of susceptibility-weighted imaging in detecting developmental venous anomalies and associated cavernomas and microhemorrhages in children.

PURPOSE: Developmental venous anomalies (DVA) are common neuroimaging abnormalities that are traditionally diagnosed by contrast-enhanced T1-weighted images as the gold standard. We aimed to evaluate the sensitivity of SWI in detecting DVA and associated cavernous malformations (CM) and microhemorrhages in children in order to determine if SWI may replace contrast-enhanced MRI sequences. METHODS: Contrast-enhanced T1-weighted images were used as diagnostic gold standard for DVA. The presence of DVA was qualitatively assessed on axial SWI and T2-weighted images by an experienced pediatric neuroradiologist. In addition, the presence of CM and microhemorrhages was evaluated on SWI and contrast-enhanced T1-weighted images. RESULTS: Fifty-seven children with DVA (34 males, mean age at neuroimaging 11.2 years, range 1 month to 17.9 years) were included in this study. Forty-nine out of 57 DVA were identified on SWI (sensitivity of 86%) and 16 out of 57 DVA were detected on T2-weighted images (sensitivity of 28.1%). General anesthesia-related changes in brain hemodynamics and oxygenation were most likely responsible for the majority of SWI false negative. CM were detected in 12 patients on axial SWI, but only in six on contrast-enhanced T1-weighted images. Associated microhemorrhages could be identified in four patients on both axial SWI and contrast-enhanced T1-weighted images, although more numerous and conspicuous on SWI. CONCLUSION: SWI can identify DVA and associated cavernous malformations and microhemorrhages with high sensitivity, obviating the need for contrast-enhanced MRI sequences.

Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy.

Mutations in PIGN, resulting in multiple congenital anomalies-hypotonia-seizures syndrome, a glycosylphosphatidylinositol anchor deficiency, have been published in four families to date. We report four patients from three unrelated families with epilepsy and hypotonia in whom whole exome sequencing yielded compound heterozygous variants in PIGN. As with previous reports Patients 1 and 2 (full siblings) have severe global developmental delay, gastroesophageal reflux disease, and minor dysmorphic features, including high palate, bitemporal narrowing, depressed nasal bridge, and micrognathia; Patient 3 had early global developmental delay with later progressive spastic quadriparesis, intellectual disability, and intractable generalized epilepsy; Patient 4 had bilateral narrowing as well but differed by the presence of hypertelorism, markedly narrow palpebral fissures, and long philtrum, had small distal phalanges of fingers 2, 3, and 4, absent distal phalanx of finger 5 and similar toe anomalies, underdeveloped nails, unusual brain anomalies, and a more severe early clinical course. These patients expand the known clinical spectrum of the disease. The severity of the presentations in conjunction with the patients' mutations suggest a genotype-phenotype correlation in which congenital anomalies are only seen in patients with biallelic loss-of-function. In addition, PIGN mutations appear to be panethnic and may be an underappreciated cause of epilepsy.

Cost and radiation exposure in the workup of febrile pediatric urinary tract infections.

BACKGROUND: Technetium-99m dimercaptosuccinic acid (DMSA) scans are often used in the evaluation of pediatric patients with febrile urinary tract infections (UTIs). Given the prevalence of febrile UTIs, we sought to quantify the cost, radiation exposure, and clinical utility of DMSA scans when compared with dedicated pediatric renal ultrasounds (RUSs). MATERIALS AND METHODS: An institutional review board approved retrospective study of children under the age of 18 years evaluated at our institution for febrile UTIs between the years 2004-2013 was conducted. The patients had to meet all of the following inclusion criteria: a diagnosis of vesicoureteral reflux, a fever >38°C, a positive urine culture, and evaluation with a DMSA scan and RUS. A chart review was used to construct a cost analysis of technical and professional fees, radiographic results, and radiation dose equivalents. RESULTS: Overall, 104 children met the inclusion criteria. A total of 122 RUS and 135 DMSA scans were performed. The technical costs of a DMSA scan incurred a 35% cost premium as compared to an RUS. The average effective radiation dose of a single DMSA scan was 2.84 mSv. New radiographic findings were only identified on 7% of those patients who underwent greater than 1 DMSA scan. CONCLUSIONS: The utility of the unique information acquired from a DMSA scan as compared to a RUS in the evaluation of febrile UTI must be evaluated on an individual case-by-case basis given the increased direct costs and radiation exposure to the patient.

Pseudotumoral hemicerebellitis as a mimicker of Lhermitte-Duclos disease in children: does neuroimaging help to differentiate them?

The clinical presentation and neuroimaging findings of children with pseudotumoral hemicerebellitis (PTHC) and Lhermitte-Duclos disease (LDD) may be very similar. The differentiation between these entities, however, is important because their management and prognosis are different. We report on three children with PTHC. For all three children, in the acute situation, the differentiation between PTHC and LDD was challenging. A review of the literature shows that a detailed evaluation of conventional and neuroimaging data may help to differentiate between these two entities. A striated folial pattern, brainstem involvement, and prominent veins surrounding the thickened cerebellar foliae on susceptibility weighted imaging favor LDD, while post-contrast enhancement and an increased choline peak on (1)H-Magnetic resonance spectroscopy suggest PTHC.

Structural connectivity analysis reveals abnormal brain connections in agenesis of the corpus callosum in children.

OBJECTIVES: Structural connectivity analysis is an ideal tool to study connections in brain malformations. We aimed to characterize the topological network measures and study sub-networks in children with agenesis of the corpus callosum (AgCC). We hypothesized a more segregated structural network in children with AgCC. METHODS: Structural connectivity analysis including topology analysis and network-based-statistics was applied in children with AgCC and age-matched controls. Probabilistic-tractography and brain segmentation into 108 regions were performed. For controls, structural connectivity has been analyzed after excluding the callosal connections ('virtual callosotomy'). RESULTS: Ten patients (six males, mean age 6.5 years, SD 4.5 years) and ten controls (mean age 5.9 years, SD 4.7 years) were included. In patients, topology analysis revealed higher clustering coefficient and transitivity and lower small world index and assortativity compared to controls. The bilateral insula were identified as hubs in patients, whereas the cerebellum was detected as a hub only in controls. Three sub-networks of increased connectivity were identified in patients. CONCLUSIONS: We found reduced global and increased local connectivity in children with AgCC compared to controls. Neural plasticity in AgCC may attempt to increase the interhemispheric connectivity through alternative decussating pathways other than the corpus callosum. KEY POINTS: • The structural connectivity analysis quantifies white-matter networks within the brain • In callosal agenesis there is reduced global and increased local connectivity • In callosal agenesis, alternative decussating pathways are used for interhemispheric connectivity.

Congenital abnormalities of the posterior fossa.

The frequency and importance of the evaluation of the posterior fossa have increased significantly over the past 20 years owing to advances in neuroimaging. Nowadays, conventional and advanced neuroimaging techniques allow detailed evaluation of the complex anatomic structures within the posterior fossa. A wide spectrum of congenital abnormalities has been demonstrated, including malformations (anomalies due to an alteration of the primary developmental program caused by a genetic defect) and disruptions (anomalies due to the breakdown of a structure that had a normal developmental potential). Familiarity with the spectrum of congenital posterior fossa anomalies and their well-defined diagnostic criteria is crucial for optimal therapy, an accurate prognosis, and correct genetic counseling. The authors discuss the spectrum of posterior fossa malformations and disruptions, with emphasis on neuroimaging findings (including diagnostic criteria), neurologic presentation, systemic involvement, prognosis, and risk of recurrence.

Conventional and advanced (DTI/SWI) neuroimaging findings in pediatric oligodendroglioma.

PURPOSE: Oligodendroglioma are rare pediatric brain tumors. The literature about neuroimaging findings is scant. A correct presurgical diagnosis is important to plan the therapeutic approach. Here, we evaluated the conventional and advanced neuroimaging features in our cohort of pediatric oligodendrogliomas and discuss our findings in the context of the current literature. METHODS: Clinical histories were reviewed for tumor grading, neurologic manifestation, treatment, and clinical status at the last follow-up. Neuroimaging studies were retrospectively evaluated for tumor morphology and characteristics on conventional and advanced magnetic resonance imaging (MRI). RESULTS: Five children with oligodendroglioma were included in this study. Four children were diagnosed with a low-grade oligodendroglioma. The location of the tumors included the frontal and temporal lobe in two cases each and the fronto-parietal lobe in one. In all oligodendrogliomas, tumor margins appeared sharp. In the high-grade oligodendroglioma, a cystic and partially hemorrhagic component was seen. In all children, the tumor showed a T1-hypointense and T2-hyperintense signal. The signal intensity on fluid attenuation inversion recovery (FLAIR) images was hyperintense in four and mixed hypo-hyperintense in one child. The anaplastic oligodendroglioma showed postcontrast enhancement and decreased diffusion while the low-grade oligodendrogliomas showed increased diffusion. One low-grade oligodendroglioma showed calcifications on susceptibility weighted imaging. CONCLUSION: Conventional MRI findings of pediatric oligodendrogliomas are nonspecific. Advanced MRI sequences may differentiate (1) low-grade and high-grade pediatric oligodendrogliomas and (2) pediatric oligodendrogliomas and other brain tumors.

Achondroplasia in children: correlation of ventriculomegaly, size of foramen magnum and jugular foramina, and emissary vein enlargement.

PURPOSE: Achondroplasia is a skeletal dysplasia with diminished growth of the skull base secondary to defective enchondral bone formation. This leads to narrowing of the foramen magnum and jugular foramina, which further leads to ventricular dilatation and prominence of the emissary veins. The primary goal of our study was to determine a correlation between the degree of ventricular dilatation, jugular foramina and foramen magnum narrowing, as well as emissary vein enlargement. METHODS: Conventional T2-weighted MR images were evaluated for surface area of the foramen magnum and jugular foramina, ventricular dilatation, and emissary veins enlargement in 16 achondroplasia patients and 16 age-matched controls. Ratios were calculated for the individual parameters using median values from age-matched control groups to avoid age as a confounder. RESULTS: Compared to age-matched controls, in children with achondroplasia, the surface area of the foramen magnum (median 0.50 cm(2), range 0.23-1.37 cm(2) vs. 3.14 cm(2), 1.83-6.68 cm(2), p < 0.001) and jugular foramina (median 0.02 cm(2), range 0-0.10 cm(2) vs. 0.21 cm(2), 0.03-0.61 cm(2), p < 0.001) were smaller, whereas ventricular dilatation (0.28, 0.24-0.4 vs. 0.26, 0.21-0.28, p < 0.001) and enlargement of emissary veins (6, 0-11 vs. 0, p < 0.001) were higher. Amongst the patients, Spearman correlation and multiple regression analysis did not reveal correlation for severity between the individual parameters. CONCLUSIONS: Our study suggests that in children with achondroplasia, (1) the variation in ventricular dilatation may be related to an unquantifiable interdependent relationship of emissary vein enlargement, venous channel narrowing, and foramen magnum compression and (2) stable ventricular size facilitated by interdependent factors likely obviates the need for ventricular shunt placement.

Neuroimaging findings in pediatric cerebral sinovenous thrombosis.

PURPOSE: Pediatric cerebral sinovenous thrombosis (CSVT) is a potentially life-threatening condition which is usually diagnosed by MRI. We analyzed the signal changes of the thrombus over time and the role of diffusion-weighted/tensor imaging (DWI/DTI) in the diagnosis of CSVT. METHODS: Clinical histories were reviewed for risk factors for CSVT, neurologic manifestation, and interval from onset of symptoms related to CSVT to the neuroimaging diagnosis. MRI studies were retrospectively evaluated for the appearance of thrombi on T1- and T2-weighted, fluid-attenuated inversion recovery (FLAIR), DWI/DTI, susceptibility-weighted imaging (SWI), and magnetic resonance venography (MRV) images. RESULTS: Thirty-three children with CSVT were included in this study. Seventy-seven thrombi were found. Seventy-four thrombi could be identified on T1- or T2-weighted images (96 %), 72 thrombi were seen on DWI/DTI (94 %) and 68 on FLAIR (88 %). DWI showed restricted diffusion in 29 thrombi (40 %). Thrombi older than 1 day were more likely to have a T1-hyperintense signal (p = 0.002). No additional correlation between signal intensity and age of the thrombi was found. Intraparenchymal changes secondary to CSVT were seen in 11 children. CONCLUSION: MR sequences individually are not sensitive enough to provide the diagnosis. DWI/DTI does not provide complementary diagnostic value. Approximation of the age of the thrombus is difficult because of poor correlation between signal intensity and age of the thrombi.

Assessment of upper airway patency in spontaneously breathing non-intubated neonates and infants undergoing conventional MRI of head and neck.

PURPOSE: Neonates and infants frequently undergo MRI examinations of the brain or head and neck in spontaneous respiration. This study aims to evaluate the patency of the upper airway and associated risk factors in spontaneously breathing neonates and infants undergoing MRI of head and neck. METHODS: Airway patency was assessed on sagittal and axial MRI images of the head and neck region for neonates and infants retrospectively. Anteroposterior diameters were measured at the soft palate and tongue levels as well as a lateral diameter at the tongue level for the patent airway. Chart review for risk factors was carried out. RESULTS: A total of 831 children between 0 and 12 months of age had an MRI. Eighty-two children with spontaneous ventilation were included. The airway was occluded in 29/82 (35%) of children. Twenty-four out of 29 (83%) children with airway occlusion had a depressed level of consciousness, 7/24 (29%) of whom were sedated with a single dose of benzodiazepine and 17/24 (71%) were on anti-epileptic therapy for an underlying seizure disorder and/or hypoxic ischemic encephalopathy. Forty-three out of 82 (65%) of children had an open airway. The airway diameters (mean ± SD) were 5.9 ± 2 mm (anteroposterior (AP) at soft palate), 7.4 ± 2.9 mm (lateral at soft palate), and 6.3 mm ± 1.6 (AP at dorsum of tongue). CONCLUSION: A significant proportion of spontaneously breathing neonates and infants with hypoxic ischemic encephalopathy or sedation show evidence of airway obstruction during MRI. Careful pre-MRI screening for decision of spontaneous breathing versus artificial airway support during MRI and robust airway monitoring during MRI are required for these vulnerable children.

Susceptibility-weighted imaging in pediatric neuroimaging.

Susceptibility-weighted imaging (SWI) has become a key MR sequence in pediatric neuroimaging. The usage of SWI has significantly expanded recently. The strength of SWI lies not just in its ability to identify hemorrhage, calcium or nonheme iron by virtue of its susceptibility artifact, but also more importantly, the blood oxygen level dependent venography principle whereby several diseases can be diagnosed earlier. We are continuing to harness the power of SWI in the field of pediatric neuroimaging. In this paper, we will make a comprehensive review and discuss the utility of SWI in pediatric neuroimaging in establishing the diagnosis, differential diagnosis, and also understanding the pathomechanism of various pediatric brain pathologies.

Pediatric hemiplegic migraine: role of multiple MRI techniques in evaluation of reversible hypoperfusion.

BACKGROUND: Hemiplegic migraine (HM) is a rare type of migraine with aura that involves motor weakness. Data on conventional and advanced neuroimaging findings during prolonged attacks of HM are limited, particularly in children. CASE: A 13-year-old-female with a history of migraine had a typical attack of HM characterized by right-sided hemiplegia, deterioration of vigilance and paraphasia. MRI performed 3 hours after hemiplegia onset revealed normal diffusion tensor imaging (DTI) sequences, but perfusion weighted imaging (PWI) showed a large area of hypoperfusion within the left cerebral hemisphere and susceptibility weighted imaging (SWI) demonstrated a matching area with prominent, hypointense draining sulcal veins. Magnetic resonance angiography (MRA) revealed subtle narrowing of the left middle cerebral artery. The neuroimaging abnormalities completely resolved 24 hours after the attack onset. CONCLUSION: Multiple conventional and advanced MRI techniques including SWI play a key role in an HM attack to (1) exclude acute arterial ischemic stroke and (2) further understand the pathophysiology of HM.

Christianson syndrome: spectrum of neuroimaging findings.

Christianson syndrome (CS) is caused by mutations in SLC9A6 and is characterized by severe intellectual disability, absent speech, microcephaly, ataxia, seizures, and behavioral abnormalities. The clinical phenotypes of CS and Angelman syndrome (AS) are similar. Differentiation between CS and AS is important in terms of genetic counseling. We report on two children with CS and confirmed mutations in SLC9A6 focusing on neuroimaging findings and review the available literature. Cerebellar atrophy (CA) occurs in approximately 60% of the patients with CS and develops after the age of 12 months. Hyperintense signal of the cerebellar cortex (CbC) is less common, and may be diffuse, patchy, or involve only the inferior part of the cerebellum and is best seen on coronal fluid attenuation inversion recovery images. CA and CbC-hyperintensity are not neuroimaging features of AS. In a child with the phenotype of AS, CA and/or CbC-hyperintensity are rather specific for CS and should prioritize sequencing of SLC9A6.

Diffusion tensor imaging of the brainstem in children with achondroplasia.

AIM: The aims of this study were to compare, using diffusion tensor imaging (DTI) of the brainstem, microstructural integrity of the white matter in children with achondroplasia and age-matched participants and to correlate the severity of craniocervical junction (CCJ) narrowing and neurological findings with DTI scalars in children with achondroplasia. This study also aimed to assess the potential role of fibroblast growth factor receptor type 3 on white matter microstructure. METHOD: Diffusion tensor imaging was performed using a 1.5T magnetic resonance scanner and balanced pairs of diffusion gradients along 20 non-collinear directions. Measurements were obtained from regions of interest, sampled in each pontine corticospinal tract (CST), medial lemniscus, and middle cerebellar peduncle, as well as in the lower brainstem and centrum semiovale, for fractional anisotropy and for mean, axial, and radial diffusivity. In addition, a severity score for achondroplasia was assessed by measuring CCJ narrowing. RESULT: Eight patients with achondroplasia (seven males, one female; mean age 5y 6mo, range 1y 1mo-15y 1mo) and eight age- and sex-matched comparison participants (mean age 5y 2mo, range 1y 1mo-14y 11mo) were included in this study. Fractional anisotropy was lower and mean diffusivity and radial diffusivity were higher in the lower brainstem of patients with achondroplasia than in age-matched comparison participants. The CST and middle cerebellar peduncle of the participants showed increases in mean, axial, and radial diffusivity. Fractional anisotropy in the lower brainstem was negatively correlated with the degree of CCJ narrowing. No differences in the DTI metrics of the centrum semiovale were observed between the two groups. INTERPRETATION: The reduction in fractional anisotropy and increase in diffusivities in the lower brainstem of participants with achondroplasia may reflect secondary encephalomalacic degeneration and cavitation of the affected white matter tracts as shown by histology. In children with achondroplasia, DTI may serve as a potential biomarker for brainstem white matter injury and aid in the care and management of these patients.

Clinicoradiological correlation of scoliosis in children with Jarcho-Levin and Escobar syndromes: associated "flat bone or wing-like" imaging findings.

UNLABELLED: Congenital or early onset scoliosis may be the lead clinical feature in several rare syndromes. In this paper, we present the imaging findings in two children with early onset scoliosis related to the Jarcho-Levin and Escobar syndromes and an osseous plate or wing-like bar extending along the posterior elements of the spine on computed tomography. The clinical phenotypes in these syndromes are variable. A thorough clinical evaluation with imaging correlation is essential. The recognition of underlying spinal anomalies is essential in planning treatment and estimating prognosis. In young children with progressive scoliosis, cross-sectional imaging plays a major role in the diagnostic work-up. CONCLUSION: Congenital scoliosis requires a comprehensive clinical evaluation and imaging work-up. The presence of an osseous plate or wing-like fusion of posterior elements of the spine may suggest the diagnosis of Jarcho-Levin and Escobar syndromes.

Scout view in pediatric CT neuroradiological evaluation: do not underestimate!

PURPOSE: Computed tomography (CT) is an important first-line imaging tool in pediatric neuroradiology. The scout view (SV) is essential for planning the CT study. It is frequently underestimated for its diagnostic value but may harbor important diagnostic clues. We present and discuss the role of SV in the accurate interpretation of pediatric neuroradiological CT studies. METHODS: CT studies have been collected over 12 months by an experienced pediatric neuroradiologist. Retrospective evaluation of SV and axial CT images was performed in nine children, where the SV gave important diagnostic information. Abnormalities on SV were classified as (1) located outside the field of view as imaged by the cross-sectional CT slices or (2) located in the plane of the cross-sectional CT slices or orthogonal to it. RESULTS: Five male and four female patients were included. The mean age at CT was 9.86 years (range, 0.75 to 19 years). Abnormalities on SV were located outside of the field of view as imaged by cross-sectional CT slices in six out of nine children and were within the plane of the CT slices or orthogonal to it in three out of nine children. CONCLUSIONS: A thorough and accurate evaluation of the SV may add valuable, clinically relevant information and should be a routine part of the interpretation of each pediatric neuroradiological CT study.

Neuroimaging findings of retroclival hemorrhage in children: a diagnostic conundrum.

BACKGROUND: Retroclival hemorrhage in children may occur in three compartments, namely epidural, subdural, and subarachnoid, frequently secondary to trauma. Retroclival epidural hematoma may be associated with ligamentous injury, which may further result in instability at the craniocervical junction. Retroclival subdural hematoma may indicate a sentinel event for traumatic injury elsewhere within the brain or posterior fossa. Retroclival subarachnoid hemorrhage may have severe clinical consequences related to vasospasm. OBJECTIVE: Neuroimaging is essential in the recognition, localization, and characterization of retroclival hemorrhage into various compartments and for evaluating potential severe clinical consequences such as craniocervical junction instability, underlying traumatic brain injury, and ischemia secondary to vasospasm. The goal of this paper is to discuss the anatomy and biomechanics of the craniocervical junction as well as the neuroimaging findings associated with various compartments of retroclival hemorrhage in children.

Neuroimaging findings in children with Keutel syndrome.

BACKGROUND: Keutel syndrome is a rare autosomal-recessive condition characterized by abnormal cartilage calcification. Neuroimaging findings associated with this condition have been randomly described in the literature. OBJECTIVE: To systematically evaluate the neuroimaging findings in a series of children with Keutel syndrome to broaden our base of knowledge. MATERIALS AND METHODS: Four children with confirmed Keutel syndrome were reviewed for the brain, head and neck imaging findings. RESULTS: Three of the four children, all siblings, showed evidence of moyamoya syndrome. All four siblings had pinna cartilage calcification. CONCLUSION: We propose that Keutel syndrome be considered and included among the secondary causes of moyamoya syndrome. In children with petrified auricle and neurological symptoms, Keutel syndrome should be considered and brain MRI with MRA is required.

ACR Appropriateness Criteria® Orbital Imaging and Vision Loss-Child.

Orbital disorders in children consist of varied pathologies affecting the orbits, orbital contents, visual pathway, and innervation of the extraocular or intraocular muscles. The underlying etiology of these disorders may be traumatic or nontraumatic. Presumed location of the lesion along with the additional findings, such as eye pain, swelling, exophthalmos/enophthalmos, erythema, conjunctival vascular dilatation, intraocular pressure, etc, help in determining if imaging is needed, modality of choice, and extent of coverage (orbits and/or head). Occasionally, clinical signs and symptoms may be nonspecific, and, in these cases, diagnostic imaging studies play a key role in depicting the nature and extent of the injury or disease. In this document, various clinical scenarios are discussed by which a child may present with an orbital or vision abnormality. Imaging studies that might be most appropriate (based on the best available evidence or expert consensus) in these clinical scenarios are also discussed. 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.