Brain white matter abnormalities associated with copy number variants.

White matter (WM) signal abnormalities are demonstrated in various neurodevelopmental disorders on brain magnetic resonance imaging (MRI). The pattern of WM abnormalities can aid in the diagnostic process. This study aims to characterize the WM changes found in microdeletion/microduplication syndromes. Thirteen patients with neurodevelopmental disorders due to copy number variations were collected from a cohort of children with evidence of WM abnormalities on brain MRI, in two medical centers. A pediatric neuroradiologist blindly interpreted the MRI scans. Clinical and genetic findings were retrospectively extracted from the medical records. WM changes included: multifocal (10/13) periventricular (12/13) and subcortical (5/13) signal abnormalities and WM volume loss (6/13). Dysgenesis of the corpus callosum was depicted in 12/13. The main clinical features were: global developmental delay (13/13), hypotonia (11/13), epilepsy (10/13), dysmorphic features (9/13), microcephaly (6/13), short stature (6/13), and systemic involvement (6/13). We showed that different chromosomal micro-rearrangement syndromes share similar MRI patterns of nonspecific multifocal predominantly periventricular WM changes associated with corpus callosum dysgenesis with or without WM and gray matter loss. Hence, the association of these features in a patient evaluated for global developmental delay/intellectual disability suggests a chromosomal micro-rearrangement syndrome, and a chromosomal microarray analysis should be performed.

Incidental Findings on Brain Magnetic Resonance Imaging (MRI) in Pediatric Endocrine Patients.

OBJECTIVE: To explore incidental findings on brain magnetic resonance imaging (MRI) studies of pediatric patients referred due to endocrine disorders. METHODS: A retrospective, observational study conducted in a tertiary referral center. The neuroimaging database of 17,445 brain MRI studies of 11,011 pediatric patients were searched for cases with endocrine referrals and without medical history of malignancy, genetic syndromes, and/or neurologic comorbidities. This database was linked to the pediatric neurosurgical database. Clinical data were retrieved from medical files. RESULTS: In total, 524 patients (50.2% males, mean age 8.5±3.5 years) were referred to brain MRI due to growth disturbances (n = 313), pubertal disorders (n = 183), prolactin hypersecretion (n = 18), central diabetes insipidus (n = 8), and obesity (n = 1). Incidental findings were found in 128 (24.4%) cases. Chiari type 1 malformation was more prevalent in patients with growth disturbances (P<.001). Small pituitary cysts were observed in 20 (3.8%) patients, and pineal cysts in 25 (4.8%) patients, mostly girls (68%, P<.001). White matter lesions were diagnosed in 30 (5.7%) patients, none with clinical evidence of neurologic disease. Brain asymmetry without clinical significance and developmental venous anomalies were observed in 14 (2.7%) and 8 (1.5%) patients, respectively. Twelve patients were diagnosed with intracranial tumors, and 5 required surgical intervention for a histopathologic diagnosis of juvenile pilocytic astrocytoma (n = 3), choroid plexus papilloma (n = 1), or inconclusive (n = 1). The rest were managed conservatively. CONCLUSION: Incidental findings on brain MRIs of pediatric patients referred by endocrinologists are common and raise dilemmas. The spectrum ranges from structural disruptions to tumors. Decision-making is individualized and patient-centered.

Development and Validation of a Pediatric MRI-Based Perianal Crohn Disease (PEMPAC) Index-A Report from the ImageKids Study.

BACKGROUND: As part of the prospective multicenter ImageKids study, we aimed to develop and validate the pediatric MRI-based perianal Crohn disease (PEMPAC) index. METHODS: Children with Crohn disease with any clinical perianal findings underwent pelvic magnetic resonance imaging at 21 sites globally. The site radiologist and 2 central radiologists provided a radiologist global assessment (RGA) on a 100 mm visual analog scale and scored the items selected by a Delphi group of 35 international radiologists and a review of the literature. Two weighted multivariable statistical models were constructed against the RGA. RESULTS: Eighty children underwent 95 pelvic magnetic resonance imaging scans; 64 were used for derivation and 31 for validation. The following items were included: fistula number, location, length and T2 hyperintensity; abscesses; rectal wall involvement; and fistula branching. The last 2 items had negative beta scores and thus were excluded in a contending basic model. In the validation cohort, the full and the basic models had the same strong correlation with the RGA (r = 0.75; P < 0.01) and with the adult Van Assche index (VAI; r = 0.93 and 0.92; P < 0.001). The correlation of the VAI with the RGA was similar (r = 0.77; P < 0.01). The 2 models and the VAI had a similar ability to differentiate remission from active disease (area under the receiver operating characteristic curve, 0.91-0.94). The PEMPAC index had good responsiveness to change (area under the receiver operating characteristic curve, 0.89; 95% confidence interval, 0.69-1.00). CONCLUSIONS: Using a blended judgmental and mathematical approach, we developed and validated an index for quantifying the severity of perianal disease in children with CD. The adult VAI may also be used with confidence in children.

Radiologists' performance in the diagnosis of acute intestinal ischemia, using MDCT and specific CT findings, using a variety of CT protocols.

The aim of this study was to evaluate the performance of radiologists in the diagnosis of acute intestinal ischemia using specific multi-detector CT findings. The abdominal CT scans of 90 patients were retrospectively reviewed by three radiologists: an abdominal imaging specialist, an experienced general radiologist, and a senior resident. Forty-seven patients had surgically proven intestinal ischemia and comprised the case group, while 43 patients had no evidence of intestinal ischemia at surgery and comprised the control group. Images were reviewed in a random and blinded fashion. Radiologists' performance in diagnosing bowel ischemia from other bowel pathologies was evaluated. The sensitivity, specificity, and accuracy for diagnosing bowel ischemia were 89%, 67%, and 79% for the abdominal imager; 83%, 67%, and 76% for the general radiologist; and 66%, 83%, and 74% for the senior resident, respectively. The calculated kappa value for inter-observer agreement regarding the presence of bowel ischemia was 0.79. CT findings that significantly distinguished bowel ischemia from other bowel pathologies were decreased or absent bowel wall enhancement, filling defect in the superior mesenteric artery, small bowel pneumatosis, and gas in the portal veins or superior mesenteric vein. For most of these signs, there was good inter-observer agreement. Radiologists' performance in diagnosing bowel ischemia is good, but lower than previously reported since a significant amount of cases are evaluated using a suboptimal CT technique. Radiologists' experience and expertise have an important impact on their performance.

Mature teratoma splitting the brainstem in a newborn: case report.

Mature teratomas (MTs) of the posterior fossa are extremely rare. The authors present a case of a prenatal diagnosis of an MT splitting the brainstem. Representative images as well as the clinical and surgical course are presented. Literature regarding "split brainstem" and MT of the posterior fossa is discussed.

Use of EOS Low-Dose Biplanar X-Ray for Shunt Series in Children with Hydrocephalus: A Preliminary Study.

INTRODUCTION: Shunt series (SS) are a common diagnostic tool used to verify shunt integrity. SS include X-ray films of the skull, chest, and abdomen and often are performed either when a shunted patient presents with suspected shunt malfunction or as a screening test to identify shunt disconnections or dislodgment. EOS low-dose biplanar X-rays are associated with significantly reduced radiation doses compared with ordinary X-rays and are used for various indications. This is the first publication on the use of EOS as a SS technique. METHODS: Over a period of 6 months, EOS were performed at our center for various orthopedic indications, mostly for scoliosis evaluation. Nine children (<20 years of age) had a ventriculoperitoneal shunt and served as the study group. We retrospectively reviewed shunt visibility and integrity in the EOS scans as well as regular SS or plain spinal X-rays. RESULTS: Three patients had bilateral shunts, and 8 had previous X-rays for comparison. In all patients, the shunt integrity was easily demonstrated on the EOS images. Two patients had an identified shunt disconnection confirmed on the EOS images. No shunt-related information was missed on the EOS compared with the other X-ray images. CONCLUSIONS: These preliminary results suggest that EOS may be used as an alternative technology to demonstrate shunt integrity instead of regular X-ray SS. Favorable shunt visibility without the need for multiple radiation exposures and image processing (such as stitching) results in a significantly shorter examination time and significant less radiation.

Automatic segmentation and components classification of optic pathway gliomas in MRI.

We present a new method for the automatic segmentation and components classification of brain Optic Pathway Gliomas (OPGs) from multi-spectral MRI datasets. Our method accurately identifies the sharp OPG boundaries and consistently delineates the missing contours by effectively incorporating prior location, shape, and intensity information. It then classifies the segmented OPG volume into its three main components--solid, enhancing, and cyst--with a probabilistic tumor tissue model generated from training datasets that accounts for the datasets grey-level differences. Experimental results on 25 datasets yield a mean OPG boundary surface distance error of 0.73mm and mean volume overlap difference of 30.6% as compared to manual segmentation by an expert radiologist. A follow-up patient study shows high correlation between the clinical tumor progression evaluation and the component classification results. To the best of our knowledge, ours is the first method for automatic OPG segmentation and component classification that may support quantitative disease progression and treatment efficacy evaluation.