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We retrospectively reviewed the clinical and radiologic findings in 17 children with an aberrant cisternal CN7 and found that these patients had additional anomalies involving other pontine cranial nerves. The hallmark imaging feature identified in all patients was aberrant cisternal segment of an enlarged appearing CN7. The abnormal nerve coursed anteriorly towards the Gasserian ganglion where it fanned out towards the internal auditory canal, Meckel's cave or both. This finding was accompanied by a small cisternal CN5 which often had a lateral bowed appearance. CN5 and CN7 were abnormally close to each other. Meckel's cave appeared widened posteriorly and often was close to or merged with the internal auditory canal. Other abnormalities in the pontine cranial nerves included CN8 deficiency in the majority of children and variable CN6 deficiency. This constellation of findings was most often discovered in children having MR evaluation for sensorineural hearing loss and the majority of patients had preserved facial nerve function. In patients with available genetic testing, no pathogenic variants were observed. Interestingly, in 13 children with available birth history, 9 were notable for maternal or gestational diabetes (69%), suggesting a possible early intrauterine insult to the developing nerves.ABBREVIATIONS: CN= cranial nerve; OAVS= Oculo-Auriculo-Vertebral Spectrum; IAC= Internal Auditory Canal; PTCD= Pontine Tegmental Cap Dysplasia; EMR= Electronic Medical Record; SNHL= sensorineural hearing loss.

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We report on the conventional and diffusion tensor imaging (DTI) findings of a 2-year-old child with clinical presentation of Joubert's Syndrome (JS) and brainstem structural abnormalities as depicted by neuroimaging.Conventional magnetic resonance imaging (MRI) showed a "molar tooth" configuration of the brainstem. A band-like formation coursing in an apparent axial plane anterior to the interpeduncular fossa was noted and appeared to partially cover the interpeduncular fossa.DTI maps and three-dimensional (3D) tractography demonstrated a prominent red-encoded white matter bundle anterior to the midbrain. Probable aberrant course of the bilateral corticospinal tracts (CST) was also depicted. Absence of the decussation of the superior cerebellar peduncles and elongated thickened, horizontal superior cerebellar peduncle (SCP) reflecting the molar tooth sign were also shown.Our report and the review of the published cases suggest that DTI and tractography may be very helpful to differentiate between interpeduncular heterotopias and similarly located white matter bundles corroborating the underlying etiology of axonal guidance disorders in the complex group of ciliopathies including JS. Our case represents an important additional puzzle piece to explore the variability of these ciliopathies.

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UNLABELLED: Liver transplantation treats the hepatic affectation of UCDs; however, irreversible neurologic damage pretransplant is difficult to assess providing transplant teams with ethical dilemmas for liver transplantation. The purpose of our study was to determine whether pretransplant neuroimaging can predict developmental outcomes post-liver-transplant in children with UCDs. METHODS: Patients undergoing liver transplantation for UCDs at Cincinnati Children's Hospital Medical Center between 2002 and 2012 were identified. Neurologic assessments prior to and after transplantation were categorized into mild, moderate, or severe disability. Neuroimaging data were categorized into mild, moderate, or severe by a single pediatric neuroradiologist. RESULTS: Fifteen patients were identified of whom eight had neuroimaging prior to transplantation. Of the eight patients that had neuroimaging, four were categorized as severe, one moderate, and three no-to-mild delay. All four patients whose imaging was severe were found to have moderate-to-severe neurologic delay. Of the three patients with no-to-mild changes on neuroimaging two of three were found to have no-to-mild delay on developmental assessments after transplantation. CONCLUSION: Neuroimaging may be a helpful tool in determining developmental prognosis and outcomes post-liver-transplantation for UCDs. Further studies maybe needed to validate our preliminary findings.

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Magnetic resonance imaging (MRI) studies of the brain in pediatric patients frequently show abnormal white matter lesions, which may be concerning for demyelinating disease. This study aimed to determine the proportion of pediatric patients who have MRI lesions concerning for demyelinating disease at presentation and ultimately are diagnosed with a primary central nervous system demyelinating disease. A retrospective chart review was performed on MRI reports of patients who underwent imaging evaluation at a single tertiary pediatric hospital. Of 299 patients identified, 192 presented with acute neurologic complaints. In this group, ≥ 5 discrete lesions, African American race, and having brain stem, thalamic, cerebellar, or optic nerve lesions was associated with the patient being diagnosed with a disease that required further treatment. The other 107 patients underwent MRI for other indications. Among these subjects, having lesions within the corpus callosum or cerebellum was associated with being diagnosed with a disease requiring further treatment.

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UNLABELLED: OBJECT.: The authors conducted a study to correlate histopathological features, MRI findings, and postsurgical outcomes in children with cortical dysplasia (CD) by performing a novel resection site-specific evaluation. METHODS: The study cohort comprised 43 children with intractable epilepsy and CD. The MR image review was blinded to pathology but with knowledge of the resection location. An MRI score (range 0-7) was calculated for each resection region based on the number of imaging features of CD and was classified as "lesional" or "nonlesional" according to all imaging features. Outcome was determined using the International League Against Epilepsy (ILAE) scale. The determination of pathological CD type was based on the ILAE 2011 consensus classification system, and the cortical gliosis pattern was assessed on GFAP staining. RESULTS: There were 89 resection regions (50 ILAE Type I, 29 Type IIa, and 10 Type IIb). Eleven (25.6%) of 43 children had more than one type of CD. The authors observed MRI abnormalities in 63% of patients, characteristic enough to direct resection (lesional) in 42%. Most MRI features, MRI score ≥ 3, and lesional abnormalities were more common in patients with Type II CD. Increased cortical signal was more common in those with Type IIb (70%) rather than Type IIa (17.2%) CD (p = 0.004). A good outcome was demonstrated in 39% of children with Type I CD and 72% of those with Type II CD (61% in Type IIa and 100% in Type IIb) (p = 0.03). A lesional MRI abnormality and an MRI score greater than 3 correlated with good outcome in 78% and 90% of patients, respectively (p < 0.03). Diffuse cortical gliosis was more prevalent in Type II CD and in resection regions exhibiting MRI abnormalities. Complete surgical exclusion of the MRI abnormality was associated with a better postoperative outcome. CONCLUSIONS: This study provides a detailed correlation of MRI findings, neuropathological features, and outcomes in children with intractable epilepsy by using a novel resection site-specific evaluation. Because 25% of the patients had multiple CD subtypes, a regional analysis approach was mandated. Those children with lesional MRI abnormalities, Type II CD, and surgical exclusion of the MRI abnormality had better outcomes. Type II CD is more detectable by MRI than other types, partly because of the greater extent of associated gliosis in Type II. Although MRI findings were correlated with the pathological CD type and outcome in this study, the majority of patients (58%) did not have MRI findings that could direct surgical therapy, underscoring the need for improved MRI techniques for detection and for the continued use of multimodal evaluation methods in patient selection.

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