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Background. The spectrum of neurologic disease attributable to Mycoplasma pneumoniae in children is incompletely understood in part because of limitations of microbiologic diagnostic methods. Our objective was to characterize the neurologic complications of M. pneumoniae in children using stringent diagnostic criteria. Methods. All children admitted to the Hospital for Sick Children over a 16-year period with acute neurologic manifestations and polymerase chain reaction (PCR)-confirmed M. pneumoniae infection were eligible for inclusion. Cases were categorized as definite, probable, or possible according to strength of evidence implicating M. pneumoniae. Children with underlying noninfectious neurologic conditions or an alternative infectious cause were excluded. Results. A total of 365 children had M. pneumoniae detected in the cerebrospinal fluid (CSF) or respiratory tract by PCR, 42 (11.5%) of whom had neurologic disease attributable to M. pneumoniae. The most common clinical syndromes were encephalitis (52%), acute disseminated encephalomyelitis (12%), transverse myelitis (12%), and cerebellar ataxia (10%). Two distinct disease patterns were observed, one with a prolonged prodrome (=7 days), respiratory manifestations, an immunoglobulin M (IgM) response in peripheral blood, and detection of M. pneumoniae in the respiratory tract, but not the CSF, and one with a brief (<7 days) or no prodrome, less frequent respiratory manifestations and IgM response, and detection of M. pneumoniae in the CSF, but not the respiratory tract. Conclusions. Our findings support the hypothesis of two separate pathogenetic mechanisms for M. pneumoniae- associated neurologic disease, one related to direct infection of the central nervous system and one indirect, likely immunologically mediated. [ABSTRACT FROM AUTHOR]

Background Alternating hemiplegia of childhood and rapid-onset dystonia parkinsonism are two separate movement disorders with different dominant mutations in the same sodium-potassium transporter ATPase subunit gene, ATP1A3. Patient We present a child with topiramate-responsive alternating hemiplegia of childhood who was tested for an ATP1A3 gene mutation. Results Gene sequencing revealed an identical ATP1A3 mutation as in three typical adult-onset rapid-onset dystonia parkinsonism cases but never previously described in an alternating hemiplegia of childhood case. Conclusion The discordance of these phenotypes suggests that there are other undiscovered environmental, genetic, or epigenetic factors influencing the development of alternating hemiplegia of childhood or rapid-onset dystonia parkinsonism. [ABSTRACT FROM AUTHOR]

Background Thoracic outlet syndrome is rare in children but may have serious consequences. Compression of the neurovascular structures at the thoracic outlet by anomalous soft tissues or cervical ribs may cause neurological deficits in the upper limb and venous or arterial insufficiency. Patients The symptoms and signs of this condition are well documented, but we describe two patients with an atypical presentation. We review similar published cases where delay in diagnosis resulted in cerebrovascular catastrophe. Our patients presented with relatively nonspecific central nervous system symptoms and were found to have thoracic outlet compression. Both were treated by surgical decompression of the thoracic outlet, and the symptoms completely resolved with no long-lasting neurological consequences. Conclusions We highlight the importance of these rare cases because of the risk of stroke and discuss the theory behind the pathological process. [ABSTRACT FROM AUTHOR]

Aim: To study neuroradiological features in pediatric patients with corpus callosum abnormalities, using new functional subtyping for the corpus callosum, and to correlate the features with the clinical presentation.Method: We performed a retrospective review of 125 patients with radiologically identified abnormalities of the corpus callosum seen between 1999 and 2012. The study reviewed clinical features, genetic etiology, and chromosomal microarray (CMA) results. We used a new functional classification for callosal abnormalities based on embryological and anatomical correlations with four classes: complete agenesis, anterior agenesis (rostrum, genu, body), posterior agenesis (isthmus, splenium), and complete hypoplasia (thinning). We also studied the presence of extracallosal abnormalities.Results: The new functional callosal subtyping did not reveal significant differences between the various subtypes in association with neurological outcome; however, the presence of cardiac disease was found more frequently in the group with complete agenesis. Thirty-seven per cent (46/125) had identifiable causes: of these, 48% (22/46) had a monogenic disorder, 30% (14/46) had a pathogenic chromosomal copy-number variant detected by CMA or karyotype, and 22% (10/46) had a recognizable clinical syndrome for which no confirmatory genetic test was available (namely Aicardi syndrome/septo-optic dysplasia and Goldenhar syndrome). The diagnostic yield for a significant CMA change was 19%. The presence of Probst bundles was found to be associated with a better neurodevelopmental outcome.Interpretation: The functional classification system alone 'without clinical data' cannot predict the functional outcome. The presence of extracallosal brain abnormalities and an underlying genetic diagnosis predicted a worse neurodevelopmental outcome. This study highlights the importance of CMA testing and cardiac evaluation as part of a routine screen. [ABSTRACT FROM AUTHOR]

Craniocervical arterial dissection is a frequent cause of childhood arterial ischemic stroke requiring prompt diagnosis and treatment. However, there is no universal guideline for diagnostic cerebrovascular imaging in children. We assessed the role of time-of-flight magnetic resonance angiography in diagnosing craniocervical arterial dissection. We included children (1 month to 18 years) with craniocervical arterial dissection and ischemic stroke from January 1998 to June 2007. Institutional protocol required magnetic resonance imaging (MRI)/ magnetic resonance angiography for all ischemic stroke cases and conventional cerebral angiography if magnetic resonance angiography showed any arteriopathy. Among 233 ischemic stroke cases, craniocervical arterial dissection was diagnosed in 13 patients (5.6%; 10 males), with a mean age of 7.5 years. Initial time-of-flight magnetic resonance angiography missed dissection in 8 patients (61.5%) because the neck vessels were not scanned (n = 2), of suboptimal technique (n = 3), and of diagnostic error (n = 3). T1 fat-saturated MRI and contrast-enhanced magnetic resonance angiography were not performed in 12 patients. If suspicion for arterial dissection is high, T1 fat-saturated neck imaging and contrast-enhanced magnetic resonance angiography should be considered to maximize detection. [ABSTRACT FROM AUTHOR]

Background There are very few studies on acute encephalitis with onset during the neonatal period. The objectives of this study were to investigate the etiology and salient clinical features of neonatal encephalitis. Methods Neonates with possible infectious encephalitis (IE) were prospectively enrolled. Inclusion criteria included encephalopathy (altered/fluctuating level of consciousness ≥24 hours) plus ≥2 of: fever/temperature instability; seizure(s); focal neurologic findings; CSF pleocytosis; EEG abnormalities consistent with encephalitis; neuroimaging abnormalities consistent with encephalitis. Neonates with a clear diagnosis of post-perinatal asphyxial encephalopathy or culture proven bacterial meningitis were excluded. Results shown as absolute numbers, proportions or medians [interquartile range] as appropriate. Results Fifty-nine neonates fulfilled the inclusion/exclusion criteria (June 2013–November 2018). Empiric acyclovir was initiated in 49 (83.1%) cases. An infectious etiology was identified in 25 (42.4%): enteroviruses (n = 15), HSV (n = 5), HHV6 (n = 2), parainfluenza 3 (n = 1), influenza A (n = 1), CMV (n = 1). A noninfectious cause was confirmed in 20 (33.9%): missed hypoxic-ischemic encephalopathy (n = 10), genetic/metabolic disorders (n = 7), ischemic/hemorrhagic stroke (n = 3). No specific etiology was identified in 14 (23.7%). Thirteen (52%) neonates with IE either died (n = 7) or suffered neurologic sequelae (n = 6). Deaths were attributable to HSV (n = 4), enteroviruses (n = 2) and HHV6 (n = 1). Neurocognitive sequelae were documented in one case each of enterovirus, HSV2, HHV6, CMV, parainfluenza 3 and influenza A. Differences between neonates with and without IE, respectively, included age in days of symptom onset (7 [6, 10] vs. 1 [0, 3]; P < 0.001), gestational age (37.0 [36.0, 39.0] vs. 38.6 [37.6, 40.0]; P = 0.045), peripheral leukocyte count (10.5 [IQR 5.9, 14.6] vs. 14.3 [IQR 10.7, 21.7]; P = 0.008) and CSF glucose (2.80 [IQR 2.3, 3.2] vs. 3.10 [2.8, 3.8]; P = 0.003). Conclusion Enteroviruses and HSV are the predominant causes of neonatal IE. Outcome of neonatal IE is poor with approximately half dying or suffering neurologic sequelae. Disclosures All authors: No reported disclosures. [ABSTRACT FROM AUTHOR]