Pearls & Oy-sters: MOG-AD Meningoencephalitis With Holocord Gray Matter Predominant Myelitis.

Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) has been implicated in a wide range of CNS encephalitis and myelitis presentations. We present a previously healthy 16-year-old girl who presented with acute onset headaches that rapidly progressed to encephalopathy, flaccid paraparesis, lower extremity hyperreflexia, and urinary retention. Serial MRI brain and total spine imaging demonstrated evolving diffuse supratentorial leptomeningeal enhancement and holocord gray matter restricted T2 bright lesion without enhancement. CSF was markedly inflammatory with MOG antibody positive >1:10,000. The patient improved after empiric steroids, plasma exchange, and IVIG.

Co-occurrence of subcutaneous myxopapillary ependymoma, dermal sinus tract, and filum terminale lipoma: a review of the pathobiology of caudal spinal cord development and spinal cord tethering. Illustrative case.

BACKGROUND: Myxopapillary ependymoma (MPE) is typically benign and found in the conus medullaris and/or filum terminale, although rare cases of subcutaneous and extra-axial MPE have been reported. The co-occurrence of MPE, tethered cord syndrome (TCS) with lipoma of the filum terminale, and a dermal sinus tract is extremely rare, with only 6 reported cases in the literature. Here, the authors present the first case, to their knowledge, of an extra-axial, subcutaneous MPE co-presenting with TCS, lipoma of the filum terminale, and a dermal sinus tract and discuss the underlying pathobiology. OBSERVATIONS: A 14-month-old male who presented for evaluation of a dermal sinus tract underwent magnetic resonance imaging, which revealed a tethered cord with associated lipoma. At 14 months, the patient underwent spinal cord detethering with resection of his sacral dimple and sinus tract. Histopathological evaluation revealed an incidentally found MPE within the dermal sinus tract. LESSONS: The authors review the underlying biology of MPEs, tethered cord syndrome, and dermal sinus tracts, and explore possible points of convergence within the developmental pathways that may result in this unique concomitant presentation. Additionally, they suggest that extra-axial MPE may be underappreciated and underdiagnosed; this case suggests that extra-axial MPE may be only effectively diagnosed with histological studies.

Cystic dissemination of choroid plexus papilloma: illustrative cases.

BACKGROUND: Choroid plexus papillomas are benign tumors of the choroid plexus. Although typically focal, they can metastasize. Rarely, patients may present with numerous cystic lesions throughout the craniospinal axis. OBSERVATIONS: The authors present three cases of pathologically confirmed fourth ventricular World Health Organization (WHO) grade 1 choroid plexus papillomas presenting with numerous cystic lesions throughout the craniospinal axis. Two cases were treated with only resection of the fourth ventricular mass; one was treated with a partial cyst fenestration. During follow-up, there was only mild interval growth of the cystic lesions over time, and all patients remained asymptomatic from their cystic lesions. The authors summarize five additional cases of cystic dissemination in the published literature and discuss hypotheses for the pathophysiology of this rare presentation. LESSONS: Choroid plexus papillomas may present with numerous, widely disseminated cystic lesions within the craniospinal axis. Thus, the authors recommend preoperative and routine imaging of the entire neuroaxis in patients with choroid plexus tumors, regardless of WHO grade. Although the role of adjuvant therapy and cyst fenestration in the treatment of these lesions remains unclear, watchful waiting may be indicated, especially in asymptomatic patients, because the lesions often demonstrate slow, if any, growth over time.

Magnetic resonance imaging adds prognostic value to EEG after pediatric cardiac arrest.

AIM: To investigate how combined electrographic and radiologic data inform outcomes in children after cardiac arrest. METHODS: Retrospective observational study of children admitted to the pediatric intensive care unit (PICU) of a tertiary children's hospital with diagnosis of cardiac arrest from 2009 to 2016. The first 20 min of electroencephalogram (EEG) background was blindly scored. Presence and location of magnetic resonance imaging (MRI) diffusion-weighted image (DWI) abnormalities were correlated with T2-weighted signal. Outcomes were categorized using Pediatric Cerebral Performance Category (PCPC) scores at hospital discharge, with "poor outcome" reflecting a PCPC score of 4-6. Logistic regression models examined the association of EEG and MRI variables with outcome. RESULTS: 41 children met inclusion criteria and had both post-arrest EEG monitoring within 72 hours after ROSC and brain MRI performed within 8 days. Among the 19 children with poor outcome, 10 children did not survive to discharge. Severely abnormal EEG background (p < 0.0001) and any diffusion restriction (p < 0.0001) were associated with poor outcome. The area under the ROC curve (AUC) for identifying outcome based on EEG background alone was 0.86, which improved to 0.94 with combined EEG and MRI data (p = 0.02). CONCLUSION: Diffusion abnormalities on MRI within 8 days after ROSC add to the prognostic value of EEG background in children surviving cardiac arrest.

Genetic and histopathological associations with outcome in pediatric pilocytic astrocytoma.

OBJECTIVE: Pilocytic astrocytomas (PAs) have a generally favorable prognosis; however, progression or recurrence after resection is possible. The prognostic value of histopathological qualifiers (defined below) or BRAF alterations is not well understood. The aim of this study was to identify the prognostic value of genetic and histopathological features of pediatric PAs. METHODS: Patients treated for a WHO grade I PA at a single institution were analyzed for histopathological and genetic features and outcomes. "Histopathological qualifier" refers to designations such as "WHO grade I PA with increased proliferative index." BRAF alterations include gene fusions and point mutations. Patients with neurofibromatosis type 1 were excluded. RESULTS: A total of 222 patients were analyzed (51% female, mean age 9.6 years). Tumors were located in the cerebellum/fourth ventricle (51%), optic pathway/hypothalamus (15%), brainstem (12%), and cerebral cortex (11%). BRAF alterations were screened for in 77 patients and identified in 56 (73%). Histopathological qualifiers were present in 27 patients (14%). Resection was performed in 197 patients (89%), 41 (21%) of whom displayed tumor progression or recurrence after resection. Tumor progression or recurrence was not associated with histopathologic qualifiers (p = 0.36) or BRAF alterations (p = 0.77). Ki-67 proliferative indices were not predictive of progression or recurrence (p = 0.94). BRAF alterations, specifically KIAA1549 fusions, were associated with cerebellar/fourth ventricular tumor location (p < 0.0001) and younger patient age (p = 0.03). Patients in whom gross-total resection was achieved had lower rates of progression and recurrence (p < 0.0001). CONCLUSIONS: Histopathological features/qualifiers and BRAF alterations were not associated with tumor recurrence/progression in pediatric PAs. The extent of resection was the only factor analyzed that predicted outcome.

Benefits of newborn screening and hematopoietic cell transplant in infantile Krabbe disease.

Infantile Krabbe disease (IKD) can be treated with hematopoietic cell transplantation (HCT) if done during the first weeks of life before symptoms develop. To facilitate this, newborn screening (NBS) has been instituted in 8 US states. An application to add IKD to the recommended NBS panel is currently under review. In this report, the outcomes of newborns with IKD diagnosed through NBS and treated with HCT are presented. The unique challenges associated with NBS for this disease are discussed, including opportunities for earlier diagnosis and streamlining treatment referrals. This is a retrospective review of six infants with IKD detected by NBS who were referred for HCT. The timing from diagnosis to HCT was examined, and both HCT and neurodevelopmental outcomes are described. Neurologic testing before HCT revealed evidence of active IKD in all infants. All underwent HCT between 24 and 40 days of age, were successfully engrafted, and are alive 30 to 58 months later (median, 47.5 months). All are gaining developmental milestones albeit at a slower pace than unaffected age-matched peers. Gross motor function is most notably affected. NBS for these patients enabled early access to HCT, the only currently available treatment of infants with IKD. All children are alive and have derived developmental and neurologic benefits from timely HCT. Long-term follow up is ongoing. Optimization of HCT and further development of emerging therapies, all of which must be delivered early in life, are expected to further improve outcomes of infants with IKD.

The Forgotten Phacomatoses: A Neuroimaging Review of Rare Neurocutaneous Disorders.

Phakomatoses, or neurocutaneous syndromes, are a heterogeneous group of rare genetic disorders that predominantly affect structures arising from the embryonic ectoderm, namely the skin, eye globe, retina, tooth enamel, and central nervous system. Other organs are also involved in some syndromes, mainly cardiovascular, pulmonary, renal, and musculoskeletal systems. Currently, more than sixty distinct entities belonging to this category have been described in the literature. Common phakomatoses include conditions like Neurofibromatosis and Tuberous sclerosis. Several review papers have focused on various aspects of these common conditions, including clinical presentation, genetic and molecular basis, and neuroimaging features. In this review, we focus on rare neurocutaneous syndromes: Melanophakomatoses (Ie, Neurocutaneous Melanosis, and Incontinentia Pigmenti), Vascular Phakomatoses (Ie, Ataxia Telangiectasia and PHACE Syndrome), and other conditions such as Cowden Syndrome, Basal Nevus Syndrome, Schwannomatosis, Progressive Facial Hemiatrophy, Gomez-Lopez-Hernandez Syndrome, Wyburn-Mason Syndrome, CHILD Syndrome, and Proteus Syndrome. We also review the neuroradiologic manifestations of these conditions as a guide for neurologists and neuroradiologists in their daily practice.

Diagnosis and Management of pituitary disease with focus on the role of Magnetic Resonance Imaging.

Magnetic resonance (MR) imaging is an essential tool in the diagnosis and management of pituitary diseases, indispensable for making correct treatment decisions. Successful management and follow-up of pituitary pathology requires an understanding of the MR appearance of normal and abnormal structures in the sellar region. This review will describe the MR appearance of the normal and abnormal pituitary gland and proposes an algorithm for the management strategy of some of the most common abnormalities in or around the sella.

Effect of Reader and Patient Parameters on the Performance of Last-Image-Hold for Fluoroscopic Grading of Vesicoureteric Reflux.

OBJECTIVE. The purpose of this study is to determine the effect of different reader and patient parameters on the degree of agreement and the rate of misclassification of vesicoureteric reflux grading on last-image-hold frames in relation to spot-exposed frames from voiding cystourethrography (VCUG) as well as to determine the nature of reflux misclassification on last-image-hold frames. MATERIALS AND METHODS. Blinded readers conducted a retrospective evaluation of last-image-hold and spot-exposed frames of the renal fossae from 191 sequential VCUG examinations performed during a five-year period. Kappa tests were used to determine the agreement between reflux gradings and to assess the impact of reader and patient parameters. Pearson product-moment correlations were used to evaluate the effect of patient parameters on reader level of certainty regarding reflux grading. RESULTS. We measured almost perfect overall agreement for more experienced readers and substantial overall agreement for less experienced readers. Point estimates of overall misclassification were less than 2% for more experienced readers and less than 4% for less experienced readers. The readers' level of certainty about reflux grading had a positive impact on agreement values and misclassification rates. Experienced readers' most common misclassification was assigning reflux a grade of 3 on a spot-exposed frame and a grade of 2 on an equivalent last-image-hold frame. Inexperienced readers' most common misclassification involved missing reflux altogether. CONCLUSION. Instances of grade 2 reflux on last-image-hold frames may warrant supplemental evaluation with spot-exposed frames. Otherwise, a reader's level of certainty regarding reflux grading on a last-image-hold frame may help determine whether a supplemental spot-exposed frame would be beneficial.

Current Challenges in the Use of Computed Tomography and MR Imaging in Suspected Cervical Spine Trauma.

There is controversy regarding the optimal imaging strategy in adult blunt trauma patients for suspected cervical spine trauma. Some investigators recommend negative computed tomography (CT) alone to clear the cervical spine in adult blunt trauma patients, while others insist that MR imaging is necessary, especially among obtunded adult blunt trauma patients. CT is an excellent imaging modality for bony cervical spine injury; however, there is a nonzero rate of clinically significant cervical spine injuries missed on CT. MR imaging has high sensitivity for soft tissue cervical spine injuries, but low specificity for the rare isolated unstable ligamentous cervical spine injury.