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Pseudotumor cerebri also known as idiopathic intracranial hypertension is a relatively uncommon disorder of unknown pathophysiology. Although pseudotumor cerebri occurs in both children and adults, the pseudotumor cerebri literature is heavily dominated by adult studies. The aim of this study is to retrospectively describe the clinical presentation, imaging, treatment, and outcomes of a large pediatric pseudotumor cerebri population over a 23-year period. We also discuss secondary pseudotumor cerebri (44%) as well as the increasingly recognized patient subgroups without headache (13.3%) and without papilledema (7.3%). Female sex, obesity, and initial symptoms were consistent with the literature; however radiographic findings were surprisingly low in this cohort. Headache outcomes at 1 week, 1 month, and 3 months following initial lumbar puncture/treatment and visual function outcomes are reported.

ObjectiveTo characterize disease severity and distribution of disability in pediatric-onset multiple sclerosis (POMS) and to develop an optimized modeling scale for measuring disability, we performed a multicenter retrospective analysis of disability scores in 873 persons with POMS over time and compared this to previously published data in adults with multiple sclerosis (MS).MethodsThis was a retrospective analysis of prospectively collected data collected from 12 centers of the US Network of Pediatric MS Centers. Patients were stratified by the number of years from first symptoms of MS to Expanded Disability Status Scale (EDSS) assessment and an MS severity score (Pediatric Multiple Sclerosis Severity Score [Ped-MSSS]) was calculated per criteria developed by Roxburgh et al. in 2005.ResultsIn total, 873 patients were evaluated. In our cohort, 52%, 19.4%, and 1.5% of all patients at any time point reached an EDSS of 2.0, 3.0, and 6.0. Comparison of our Ped-MSSS scores and previously published adult Multiple Sclerosis Severity Scores (MSSS) showed slower progression of Ped-MSSS with increasing gaps between higher EDSS score and years after diagnosis. Decile scores in our POMS cohort for EDSS of 2.0, 3.0, and 6.0 were 8.00/9.46/9.94, 7.86/9.39/9.91, and 7.32/9.01/9.86 at 2, 5, and 10 years, respectively. Notable predictors of disease progression in both EDSS and Ped-MSSS models were ever having a motor relapse and EDSS at year 1. Symbol Digit Modalities Test (SDMT) scores were inversely correlated with duration of disease activity and cerebral functional score.ConclusionsPersons with POMS exhibit lower EDSS scores compared to persons with adult-onset MS. Use of a Ped-MSSS model may provide an alternative to EDSS scoring in clinical assessment of disease severity and disability accrual.

Aim: We characterize the pediatric postural orthostatic tachycardia syndrome (POTS) population seen at a single tertiary care referral center. Method: Retrospective chart review of all pediatric POTS patients seen in our center between 2015 and 2017. Pediatric POTS was defined as chronic, at least 3 months, symptoms of orthostatic intolerance associated with excessive orthostatic tachycardia as determined by tilt table testing with orthostatic heart rate increment of ≥40 bpm within 5 minutes of head-up tilt or absolute orthostatic heart rate ≥130 bpm for patients 13 years old and younger and ≥120 bpm for those 14 years and older. We looked at demographics, presenting symptoms, comorbidities, examination findings, investigation findings, treatment, and patient reported outcomes. Outcome measures were separated by patient report and group comparisons were made using 2-sample t tests or Mann-Whitney U tests for continuous variables and Fisher exact tests for categorical variables. Results: One hundred thirty-four patients with pediatric onset POTS were identified. The mean age was 15 years. Seventy-nine percent of patients were female and 90% were white. The most common presenting symptoms included dizziness/lightheadedness (88%), syncope (54%), and palpitations (40%). Many patients had significant comorbidities attributable to numerous bodily systems, most commonly headache syndromes (migraine 43%, nonspecific headache 22%, chronic daily headache 14%, and new daily persistent headache 5%) and chronic fatigue (60%). Low vitamin D and insufficient iron stores were commonly seen. The majority of patients improved or had resolution of symptoms following treatment (70%). When separated by outcome, statistically significant differences were found for glucose (patients whose symptoms resolved had higher median glucose), palpitations (patients whose symptoms resolved were less likely to have palpitations), constipation (patients whose symptoms were stable/worsened were more likely to have constipation), and unexplained pain (patients whose symptoms were stable/worsened were more likely to have unexplained pain). Conclusions: Pediatric POTS is a chronic condition with a fairly good prognosis following appropriate treatment. It is associated with numerous comorbidities that necessitate multidisciplinary expert care.

Background: Segmental neurofibromatosis was initially described by Miller and Sparks (1977) as manifestations of neurofibromatosis limited to a dermatomal, localized distribution. Now termed mosaic neurofibromatosis, previous literature described this disease in children and adolescents with individual case reports and small-numbered case series. This study presents a large series of children and adolescents with mosaic neurofibromatosis. Methods: A retrospective chart review of a single institution medical record database was performed on all cases of mosaic neurofibromatosis diagnosed between the years 1998 and 2017. Eligible subjects were determined by 2 criteria: (1) segmental or unilateral expression of one of more signs of NF I according to those outlined in the NIH criteria and (2) were under 18 years of age at the time of diagnosis. Select information extracted include location of clinical features, NF manifestations (neurofibromas, plexiform neurofibromas, café-au-lait spots, freckling, Lisch nodules), presence of a diffuse area of cutaneous hyperpigmentation, and other significant medical conditions. Results: Sixty-eight cases met established criteria. Average age at diagnosis was 8.28 ± 4.47 years. Thirty-seven (54%) were male and 31 (46%) were female. Localization of the dermatologic manifestations is as follows: left side in 28 (41%) cases, right side in 32 (47%) cases, and bilateral in 8 (11%) cases. Café-au-lait lesions appeared in 64 (94%) of cases and 14 (21%) had axillary and inguinal freckling. Conclusions: This study expands our understanding of the disease characteristics seen in children and adolescents with mosaic neurofibromatosis and confirms the need to focus on pigmentary changes in children with mosaic neurofibromatosis.

Author(s): Mar, Soe; Liang, Shannon; Waltz, Michael; Casper, T Charles; Goyal, Manu; Greenberg, Benjamin; Weinstock-Guttman, Bianca; Rodriguez, Moses; Aaen, Gregory; Belman, Anita; Barcellos, Lisa F; Rose, John; Gorman, Mark; Benson, Leslie; Candee, Meghan; Chitnis, Tanjua; Harris, Yolanda; Kahn, Ilana; Roalsted, Shelly; Hart, Janace; Lotze, Timothy; Moodley, Manikum; Ness, Jayne; Rensel, Mary; Rubin, Jennifer; Schreiner, Teri; Tillema, Jan-Mendelt; Waldman, Amy; Krupp, Lauren; Graves, Jennifer S; Waubant, Emmanuelle; U.S. Network of Pediatric Multiple Sclerosis Centers | Abstract: BackgroundThere is limited information about the potential associations of multiple sclerosis (MS) and commonly used household chemicals.MethodsWe performed a case-control study of exposures to common household chemicals during childhood in children with MS and healthy pediatric controls. Exposures to household products were collected from a comprehensive questionnaire (http://www.usnpmsc.org/Documents/EnvironmentalAssessment.pdf) completed by parents at the time of enrollment in the study. Cases included children diagnosed with MS or clinically isolated syndrome with at least two silent T2 bright lesions on MRI, recruited within 4nyears of disease onset from 16 pediatric MS clinics in the USA. Multivariate analyses using logistic regression were adjusted for possible confounders including age, sex, race, ethnicity, mother's highest level of education, and urban versus rural living.ResultsQuestionnaire responses to household chemicals were available for 312 eligible cases (median age 15.7nyears, 63% girls) and 490 healthy controls (median age 15.0, 57% girls). Exposure to rodenticides (odds ratio [OR] 2.10, 95% confidence interval [CI] 1.35-3.26, Pn≤n0.001), weed control agents (OR 1.99, 95% CI 1.36-2.92, Pn≤n0.001) and products for plant/tree disease control (OR 2.72, 95% CI 1.54-4.82, Pn≤n0.001) anytime during childhood were associated with an increased risk for pediatric-onset MS in adjusted and multiple comparisons analyses.ConclusionsOur findings suggest that exposure to specific household chemicals during early childhood is associated with the risk of developing pediatric-onset MS. Future studies are needed to elucidate a causal relationship and the exact agents involved.

Background We previously identified air quality as a risk factor of interest for pediatric multiple sclerosis. The purpose of this study is to more closely examine the association between the six criteria air pollutants and pediatric MS as well as identify specific areas of toxic release using data from the Toxic Release Inventory. Methods Pediatric MS cases (N = 290) and healthy controls (N = 442) were included as part of an ongoing case–control study. We used the National Emissions Inventory system to estimate particulate exposure by county of residence for each participant. Proximity to Toxic Release Inventory (TRI) sites was also assessed using ArcGIS mapping tools. Risk‐Screening Environmental Indicators (RSEI) classified counties at risk to exposure of environmental toxic releases. Results Fine particulate matter (PM 2.5), carbon monoxide (CO), sulfur dioxide (SO 2), and lead air emissions were associated with increased odds for pediatric MS (P < 0.01) for those residing within 20 miles of an MS center. Most study participants (75%) resided within 5 miles of at least one TRI site; however, the mean total pounds of stack air releases was higher for sites near MS cases (81,000 tons) compared to those near healthy controls (35,000 tons, P = 0.002). Average RSEI scores did not differ significantly between cases and controls. Conclusion Out of several air pollutants examined, we show that fine particulate matter and three other criteria pollutants (SO 2, CO, and lead) were statistically associated with higher odds for pediatric MS.

Objective While prior Epstein–Barr virus (EBV) infection has been consistently associated with subsequent risk of developing multiple sclerosis (MS), the association with other common herpesviruses has been more controversial. Our objectives were to determine whether remote infection with EBV and other common herpesviruses affect the susceptibility to pediatric MS and if there are interactions between genetic and demographic factors and viral infections. Methods Cases with pediatric‐onset MS or clinically isolated syndrome within 4 years of disease onset, and controls were recruited from 16 American pediatric MS centers. Logistic regression models adjusted for potential confounders assessed the association between case status and serological evidence for past infection with EBV, cytomegalovirus (CMV), Herpes Simplex viruses‐1 (HSV‐1) and ‐2. We determined the heterogeneity of the effect of viral infection on the risk of having MS according to race, ethnicity and HLA‐DRB1:1501 status. Results A total of 356 pediatric cases and 493 controls were recruited. In multivariable models, EBV‐viral capsid antigen (VCA) seropositivity was associated with increased odds of having MS by 7.4 times (95% CI: 4.5–12.0, P < 0.001). Seropositivity for HSV‐1 was also associated with increased odds of having MS (OR 1.54, 95% CI: 1.06–2.25, P = 0.025) but this increase was seen only in Whites (OR = 2.18, 95% CI 1.35–3.52, P < 0.001) and those negative for HLA‐DRB1*1501 (OR = 1.89, 95% CI 1.17–3.03, P = 0.009). The effect of remote EBV infection on the risk of pediatric MS depended on race and HLA‐DRB1*15:01 status. Interpretation EBV seropositivity is strongly associated with pediatric MS, as is HSV‐1 seropositivity in subjects negative for HLA‐DRB1*15:01. Our report of interactions between select viral exposures, and age, race and DRB1 status suggests a complex effect of environmental and genetic risk factors on MS development.

OBJECTIVE To assess real-world effectiveness of initial treatment with newer compared to injectable disease-modifying therapies (DMTs) on disease activity in pediatric multiple sclerosis (MS) and clinically isolated syndrome (CIS). METHODS This is a cohort study of children with MS/CIS followed at 12 clinics in the US Network of Pediatric MS Centers, who received initial therapy with newer (fingolimod, dimethyl fumarate, teriflunomide, natalizumab, rituximab, ocrelizumab) or injectable (interferon-β, glatiramer acetate) DMTs. Propensity scores (PSs) were computed, including preidentified confounders. Relapse rate while on initial DMT was modeled with negative binomial regression, adjusted for PS-quintile. Time to new/enlarging T2-hyperintense and gadolinium-enhancing lesions on brain magnetic resonance imaging were modeled with midpoint survival analyses, adjusted for PS-quintile. RESULTS A total of 741 children began therapy before 18 years, 197 with newer and 544 with injectable DMTs. Those started on newer DMTs were older (15.2 vs injectable 14.4 years, p = 0.001) and less likely to have a monofocal presentation. In PS-quintile-adjusted analysis, those on newer DMTs had a lower relapse rate than those on injectables (rate ratio = 0.45, 95% confidence interval (CI) = 0.29-0.70, p

Background: Cognitive impairment occurs in approximately one-third of pediatric-onset multiple sclerosis (POMS) patients. The Symbol Digit Modalities Test (SDMT), a widely used cognitive screen in adults, has yet to be incorporated early into the standard care of POMS. Objective: To screen for cognitive impairment early in the course of POMS and analyze predictive factors. Methods: Of the 955 POMS or clinically isolated syndrome (CIS) patients prospectively assessed from March 2014 to July 2018, 500 POMS and 116 CIS patients met inclusion criteria (disease onset before the age of 18, one or more SDMTs, and 8 years or older at the time of testing). Those with relapse were analyzed separately from those who were relapse-free. Results: At initial assessment, the mean (interquartile range (IQR)) age at symptom onset was 13.5 years (12.0, 15.9) and the mean (±SD) disease duration was 3.0 ± 2.9 years. Impaired processing speed occurred in 23.4% of POMS and in 16.4% of CIS. On serial testing ( n = 383, mean follow-up: 1.8 years), 14.1% had clinically meaningful decline predicted by older age of multiple sclerosis (MS) onset and male gender. Disease relapse or steroid use led to transient worsening on the SDMT. Conclusion: Early in the disease, some POMS and CIS patients are at risk for cognitive impairment and subsequent decline.

Pediatric-onset multiple sclerosis (POMS), once thought to be rare, is now being diagnosed in increasing numbers in children. Despite improvements to diagnostic criteria, the diagnosis and management of POMS remains challenging. The aim of this study is to retrospectively describe a growing POMS patient population seen at a single center over a 13 year period. Epidemiologic, clinical, neuroimaging, laboratory features and therapeutic management and outcome data were collected and analyzed. These data support associations between MS and environmental triggers such as obesity and vitamin D deficiency. Presenting symptoms, magnetic resonance imaging and laboratory findings were consistent with the existing literature; however, the prevalence of cortical lesions and abnormal saccadic pursuit is higher than other reports. Data also demonstrate a shift in practice from first- to second-line therapies over the observed period.

With the recognition that pediatric-onset multiple sclerosis (POMS) is characterized by more prominent disease activity, earlier age at onset of disability milestones, and more prominent cognitive impairment compared with physical disability earlier in the disease course compared with adult-onset multiple sclerosis (AOMS), there has been increasing interest in identifying optimal and safe treatment approaches to achieve better disease control in this group. Injectable therapies have been traditionally used as first line in this population, although not formally approved. This review focuses on current treatment and monitoring approaches in POMS. In the past few years, and despite the paucity of FDA-approved medications for use in POMS, an increasing trend toward using newer disease-modifying therapies (DMTs) in this group is observed. However, escalation (as opposed to induction) remains the most frequent approach, and many children continue to be untreated before age 18, particularly before age 12. The only FDA- and EMA-approved disease-modifying therapy in POMS is fingolimod; however, dimethyl fumarate, teriflunomide, natalizumab, ocrelizumab, and alemtuzumab either have been evaluated in observational studies or are being currently investigated in formal randomized controlled trials for use in POMS and appear to be safe in this group. Autologous hematopoietic stem cell transplantation has also been evaluated in a small series. Clinical outcome measures and MS biomarkers have been poorly studied in POMS; however, the use of composite functional scores, neurofilament light chain, optical coherence tomography, and imaging findings is being increasingly investigated to improve early diagnosis and efficient monitoring of POMS. Off-label use of newer DMTs in POMS is increasing, and based on retrospective data, and phase 2 trials, this approach appears to be safe in children. Results from ongoing trials will help clarify the safety and efficacy of these therapies in the future. Fingolimod is the only FDA-approved medication for use in POMS. Outcome measures and biomarkers used in AOMS are being studied in POMS and are greatly needed to quantify treatment response in this group.

Multiple sclerosis (MS) is an autoimmune disease with high prevalence among populations of northern European ancestry. Past studies have shown that exposure to ultraviolet radiation could explain the difference in MS prevalence across the globe. In this study, we investigate whether the difference in MS prevalence could be explained by European genetic risk factors. We characterized the ancestry of MS-associated alleles using RFMix, a conditional random field parameterized by random forests, to estimate their local ancestry in the largest assembled admixed population to date, with 3,692 African Americans, 4,915 Asian Americans, and 3,777 Hispanics. The majority of MS-associated human leukocyte antigen (HLA) alleles, including the prominent HLA-DRB1*15:01 risk allele, exhibited cosmopolitan ancestry. Ancestry-specific MS-associated HLA alleles were also identified. Analysis of the HLA-DRB1*15:01 risk allele in African Americans revealed that alleles on the European haplotype conferred three times the disease risk compared to those on the African haplotype. Furthermore, we found evidence that the European and African HLA-DRB1*15:01 alleles exhibit single nucleotide polymorphism (SNP) differences in regions encoding the HLA-DRB1 antigen-binding heterodimer. Additional evidence for increased risk of MS conferred by the European haplotype were found for HLA-B*07:02 and HLA-A*03:01 in African Americans. Most of the 200 non-HLA MS SNPs previously established in European populations were not significantly associated with MS in admixed populations, nor were they ancestrally more European in cases compared to controls. Lastly, a genome-wide search of association between European ancestry and MS revealed a region of interest close to the ZNF596 gene on chromosome 8 in Hispanics; cases had a significantly higher proportion of European ancestry compared to controls. In conclusion, our study established that the genetic ancestry of MS-associated alleles is complex and implicated that difference in MS prevalence could be explained by the ancestry of MS-associated alleles., Author summary Multiple sclerosis (MS) is an autoimmune disease that is mostly found in populations with northern European ancestry. Our study investigates whether there is evidence that the difference in MS prevalence around the globe could be explained by European MS genetic risk factors in African Americans, Hispanics, or Asian Americans. Our work first established that most alleles associated with MS are not necessarily European, but are in fact, cosmopolitan. However, we also observed in African Americans that European HLA-DRB1*15:01 conferred three times the odds of MS compared to the African allele. The allele HLA-DRB1*15:01 has been shown to be a major genetic risk factor in Europeans and other admixed populations. In addition, we observed genetic variations between European and African HLA-DRB1*15:01 alleles that, based on location, could influence the function of antigen-binding proteins involved in MS. Consequently, it is plausible that ancestry could explain the risk or protective effects of other MS-associated alleles. Additionally, our study found on chromosome 8 in Hispanics a region where MS cases have more European ancestry than controls, implicating there may be new MS risk alleles to be discovered in Hispanics. In conclusion, our study found evidence that the difference in MS prevalence could be explained by European ancestry and established that the ancestry of MS genetic risk factors is complex.

Onset of multiple sclerosis (MS) in the very young (

The authors review the literature on massive soft tissue neurofibroma. The methods included a review of 71 reports (PubMed search 1929-2012) with a total of 91 massive soft tissue neurofibroma patients and illustration of clinical and radiological progression of massive soft tissue neurofibroma on a patient with neurofibromatosis type 1. The mean age at initial examination was 21 years. Tumor onset was mostly in childhood years. The commonest affected body segment was the lower extremity (46%), followed by head/neck (30%). Surgical management was pursued in the majority of cases (79%). Bleeding was a common complication (25%). Recurrence was described in 12%; multiple resections cases were described. Malignant transformation occurred in 5%. Although massive soft tissue neurofibroma may be present early in life, massive tumor overgrowth may take years. Predicting disease progression and/or benefit of surgical intervention early in the disease course is challenging. Recurrence and malignant transformation are possible. Massive soft tissue neurofibroma does not respond to chemotherapy or radiotherapy and is associated with life-threatening surgical complications.

Multiple sclerosis (MS) is a presumed autoimmune disease caused by genetic and environmental factors. It is hypothesized that environmental exposures (such as air and water quality) trigger the innate immune response thereby activating a pro-inflammatory cascade.To examine potential environmental factors in pediatric MS using geographic information systems (GIS).Pediatric MS cases and healthy controls were identified as part of an ongoing multicenter case-control study. Subjects' geographic locations were mapped by county centroid to compare to an Environmental Quality Index (EQI). The EQI examines 5 individual environmental components (air, land, water, social, built factors). A composite EQI score and individual scores were compared between cases and controls, stratified by median proximity to enrollment centers (residence20 or ≥20 miles from the recruiting center), using logistic regression.Of the 287 MS cases and 445 controls, 46% and 49% respectively live in areas where the total EQI is the highest (worst environmental quality). Total EQI was not significantly associated with the odds for MS (p = 0.9020 miles from center; p = 0.43 ≥ 20 miles); however, worsening air quality significantly impacted the odds for MS in those living near a referral center (OR = 2.83; 95%CI 1.5, 5.4) and those who reside ≥ 20 miles from a referral center (OR = 1.61; 95%CI 1.2, 2.3).Among environmental factors, air quality may contribute to the odds of developing MS in a pediatric population. Future studies will examine specific air constituents and other location-based air exposures and explore potential mechanisms for immune activation by these exposures.

Mowat-Wilson syndrome is a recently delineated multiple congenital anomaly syndrome characterized by a distinctive facial appearance in association with intellectual disability, microcephaly, agenesis of the corpus callosum, seizures, congenital heart disease, Hirschsprung disease, short stature, and genitourinary anomalies. We report a 2-year-10-month-old white female with this syndrome caused by mutations in the ZEB2 gene, and in addition a duplication of the 22q11.23, a previously undocumented occurrence.

Pediatric syncope is one of the most common neurological problems in the pediatric population in both the office setting and in the emergency department. The abrupt brief loss of consciousness is usually dramatic and alarming to patients, family, onlookers, and providers. The differential diagnosis of syncope is wide but most cases are benign. A comprehensive but focused history and a thorough clinical examination are usually the cornerstones in the diagnosis of high-risk patients. It should be noted that the evaluation of syncope in children is costly and testing provides a low diagnostic yield. This chapter reviews the various types of syncope and provides a succinct clinical approach to the diagnosis, investigation, and management of syncope in children.

Cerebral vasculopathy is an important but underrecognized complication of neurofibromatosis type 1. Over a 10-year period, we retrospectively assessed the prevalence, clinical manifestations, management, and outcome of cerebral vasculopathy in children with neurofibromatosis type 1. Magnetic resonance imaging (MRI) of the brain was performed on 78% of the patients (312/398) of which 46% (143/312) had magnetic resonance angiography of the intracranial arteries; 4.8% (15/312) had cerebral vasculopathy. Approximately half were asymptomatic at presentation; none had neurologic deficits. Cerebral vasculopathy included moyamoya changes (7) and stenosis/occlusion of major intracranial arteries (8). On follow-up (mean 4 years), 2 patients developed radiologic progression; 1 was treated with aspirin alone, whereas another underwent revascularization surgery. Although cerebral vasculopathy in neurofibromatosis type 1 may be asymptomatic at presentation, there may be radiologic and clinical progression leading to morbidity and mortality. Magnetic resonance angiography should be considered with brain MRI for early detection and timely intervention of cerebral vasculopathy.

Hirayama disease has been mainly reported from Asia; only a few cases are from the Western hemisphere, particularly North America. This is a retrospective chart review of patients < 18 years, diagnosed with Hirayama disease from a single center over 10 years. We diagnosed 6 children (4 boys), 15.1 ± 1.2 years of age. Symptom onset was 3 months to 3 years before presentation. All had unilateral or bilateral asymmetric distal upper extremity weakness without objective sensory loss. Oblique amyotrophy and cold paresis were noted in 5. On electromyography, acute-on-chronic denervation was most frequently noted in cervical-8 (C8) and thoracic-1 (T1) myotomes followed by cervical-7 (C7) myotome in both upper limbs, sparing C5–C6 myotomes. Cervical magnetic resonance imaging (MRI) was abnormal in 3. Symptoms progressed over a mean of 16.5 months. Treatment consisted of placement of cervical collar. Heightened awareness of this entity among pediatric neurologists in North America will lead to early diagnosis and intervention, avoiding unnecessary investigations.

Of patients admitted to hospital with sinusitis, about 3% have an intracranial complication. We describe the clinical features, laboratory data, imaging findings, and outcomes of pediatric patients with intracranial complications of sinusitis.A retrospective chart review of all pediatric patients21 years of age admitted for intracranial complications of sinusitis to a tertiary hospital over a 10-year period.A total of 13 patients with a mean age of 13.3 ± 3.7 years presented with headache (92%), fever (85%), nausea/vomiting (62%), sinus tenderness (31%), and lethargy (23%). Physical examination findings included Pott puffy tumor (46%), orbital cellulitis (46%), altered level of consciousness (46%), new-onset seizure (31%), hemiparesis (23%), nuchal rigidity (23%), visual disturbance (23%), and slurred speech (15%). Computed tomography and magnetic resonance imaging demonstrated 16 instances of epidural and subdural empyema, and 1 brain abscess. One child had sagittal sinus thrombosis.Our findings suggest that acute sinusitis in combination with severe intractable headache, varying degrees of altered level of consciousness, focal neurologic deficits, and/or signs of meningeal irritation should raise clinical suspicion for potential intracranial complications of sinusitis. These signs and symptoms should prompt early and aggressive evaluation and management, including neuroimaging studies, neurologic and otolaryngologic consultations, and intravenous antibiotics.

The authors describe the demographics, clinical presentation, investigation, treatment, and outcomes of pediatric patients with Guillain-Barré syndrome. They identified 35 pediatric patients with Guillain-Barré syndrome presenting to a tertiary academic center over a 20-year period. The most common presenting symptoms were paresthesias (54%), weakness (49%), and myalgias (49%). Sensation was affected in 54% of patients, and hyporeflexia or areflexia was present in 94% of patients. Cranial nerve dysfunction (46%) and autonomic involvement (eg, changes in blood pressure, pulse, bowel/bladder control, or priapism; 46%) were also common. Autonomic dysfunction, cranial nerve involvement, and albuminocytological dissociation were significantly associated with a decreased time to nadir, the point when symptoms peaked (P = .015, .007, and .005, respectively). Although not statistically significant, treatment with plasmapheresis had a better success rate than intravenous immunoglobulin. The authors’ results will help to further delineate the clinical picture of Guillain-Barré syndrome in children and refine treatment strategies.

The infectious or acquired motor neuronopathies are a heterogeneous group of disorders in which motor neuron degeneration or dysfunction produces the predominant manifestation of weakness while the sensory system is clinically spared. The most common disorders seen in children include acute poliomyelitis, vaccine associated poliomyelitis, asthma associated poliomyelitis syndrome (Hopkins syndrome), rabies, and tetanus. Viruses other than the poliovirus rarely cause the poliomyelitis syndrome including other enteroviruses (coxsackie, echo viruses), herpes virus family, adenovirus, HIV, and West Nile virus. Virologic and serologic techniques are necessary to isolate, identify, and differentiate these viruses. The pathogenesis of most acquired motor neuron disorders is poorly understood and the treatment is mainly symptomatic and supportive. This chapter is enhanced by clinical vignettes that describe the salient historical and clinical presentations and laboratory findings of the prototype disorders leading to motor neuronopathies.

A 7-year-old previously healthy right-handed boy presented to the pediatric neurology clinic with right arm and shoulder pain of 4 months duration. The pain was severe in nature, could last for an hour, at times woke him up from sleep, and was partially relieved with acetaminophen and ibuprofen. About 4 weeks prior to presentation, his parents noticed that his right upper arm was thinner than the left. The patient denied any sensory loss or weakness of the right arm or other limbs. There was no history of recent trauma or immunizations. His birth and developmental history were unremarkable and there was no family history of neuromuscular disorders. On clinical examination, his higher mental function and cranial nerves were normal. Motor system examination revealed atrophy of the right upper arm. There was no shoulder drooping, scapular winging, wasting of the forearm and hand, or fasciculations of the muscles. There was no local tenderness, redness, or swelling and range of motion of the shoulder joint was …

The authors report an 8-year-old girl with refractory status epilepticus due to hypertensive encephalopathy, secondary to end-stage renal disease. Brain magnetic resonance imaging (MRI) in the acute phase showed striking hyperintensities in the brain stem and medial thalamus along with subtle cortical lesions. After successful control of hypertensive crisis and status epilepticus, the patient recovered to her baseline. Near total resolution of the lesions was noted on follow-up imaging performed 9 days later. Predominant brainstem involvement as a feature of posterior reversible encephalopathy syndrome due to hypertensive crisis is extremely rare in children and has not been well documented.

No abstract available.

A term male newborn was admitted to the neonatal intensive care unit for respiratory distress and feeding difficulty. His 19-year-old mother was apparently healthy. The baby had generalized hypotonia, weakness, a weak cry, and a …

Three children with the clinical features of the Schwartz-Jampel syndrome are presented, two with classical features and the third with physical and radiological features resembling those found in the Schwartz-Jampel syndrome but myotonia could not be elicited either clinically or electrophysiologically. Various arguments are put forward for the absence of myotonic phenomena in the latter child.

Twenty-five full term severely asphyxiated newborn babies with cerebral oedema were divided into 2 groups and treated on a randomised basis with either Mannitol or no Mannitol. We report our findings and conclude that Mannitol is of no benefit in the management of cerebral oedema in severely asphyxiated term infants.

Objective: The purpose of our study was to determine if there was an association between Neurofibromatosis Type 1 (NF1) and syringomyelia. Background Syringomyelia is a fluid-filled cavity originating in spinal cord tissue or in the central canal. Syringomyelia occurs in 50 to 76% of patients with Arnold Chiari Malformation (ACM) type 1. There are rare case reports of patients with NF1 with syringomyelia associated with ACM type 1. Design/Methods: Retrospective chart review of all patients ≤ 18 years seen at the Cleveland Clinic with NF1 and had Magnetic Resonance Imaging (MRI) of the spine over a 10 year period (2000-2010). Results: Of 396 children with NF1, 6 had syringomyelia (3 males, mean age 11 years). The presenting symptoms were headache (n=3) and neck and back pain (n=3). Clinically there were no neurodeficits related to the syringomyelia with none having scoliosis. MRI of the spine showed syringomyelia exclusively in the cervical cord in 4 patients and both cervical and thoracic cord involvement in 2 patients. None had intramedullary tumor or abnormal contrast enhancement. Other spine MRI findings were: ACM type 1 (n=3), paraspinal neurofibromas (n=2), and diffuse foraminal neurofibromas (n=1). Brain MRI revealed: optic glioma in 3, brainstem glioma in 1 and astrocytoma of the septum pellucidum in 1. On follow-up (mean 4.2 years) there was no clinical or radiological progression of the syringomyelia. One patient developed a brainstem glioma. Conclusions: To our knowledge, this is the largest case series showing the association of syringomyelia in children with NF1. Syringomyelia was commonly associated with ACM type 1 (n=3, 50%) but also occurred without ACM in patients with NF1. As syringomyelia can expand over time close follow-up is recommended. We believe syringomyelia may be an associated lesion in patients with NF1and merits further studies. Disclosure: Dr. Ghosh has nothing to disclose. Dr. Rothner has received personal compensation for activities with AstraZeneca and M.A.P. gsk as a consultant. Dr. Rothner has received research support from GlaxoSmithkline, Merck, and AstraZeneca. Dr. Moodley has nothing to disclose.

A comparison of cranial ultrasonography, CK-BB and neurological assessment was undertaken in 30 (16 severely, 14 moderately) asphyxiated newborns. In the 16 severely asphyxiated newborns, cranial ultrasonography proved to be of value when changes of 'cerebral oedema' persisted for longer than 48 hrs. Although the mean creatine-kinase (CK-BB) activity at 12-33 hrs after birth was higher compared with that in controls of the same age, the numbers were too small in the different age categories for statistical analysis. The 81.25% specificity of ultrasound as compared with 76.47% of CK-BB suggests that the former investigation is a better indicator of cerebral injury. Phenobarbitone administered as an anticonvulsant in eight patients did not influence the CK-BB levels and the outcome in these babies. The persistence of neurological signs for more than 2 weeks predicted a poor outcome. Sixty-two per cent of the severely asphyxiated babies were light-for-dates, indicating that a chronic condition may have contributed to the poor overall prognosis in these neonates. From a combination of persisting abnormal appearances on cranial ultrasonography, elevated CK-BB activity and neurological impairment, death or significant neurological damage in nearly 90% of the severely asphyxiated babies could be predicted.

Rett syndrome is a fairly recently recognized neurodevelopmental disorder of unknown aetiology that affects exclusively girls in whom early development is apparently normal but by the age of 6-18 months autistic behaviour and dementia, apraxia of gait, stereotypic repetitive hand movements, seizures and deceleration of head growth occur. Except for one Brazilian case, all previous reported cases have been from the northern hemisphere. We report three children (two Indian and one African) with the clinical features of Rett syndrome and believe these to be the first documented cases in Indian and African children in the southern hemisphere. More widespread knowledge of this syndrome is required, especially in developing countries, in order to prevent unnecessary and costly investigations, and to help families deal effectively with this important syndrome.

To the Editor.— The paper by Dr Vanucci1 (Pediatrics. June 1990) addresses an important issue in neonatal medicine [See table in the PDF file] namely the management of hypoxic-ischemic encephalopathy (HIE). The review is comprehensive and lucid, and the section on "new management strategies" comes at a time when considerable interest has been directed toward this form of therapy. HIE remains a major problem in developing countries where the incidence may be as high as 4% to 6% compared with about 0.2% to 0.9% in the developed world.1-3