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Aim: To study long-term sequelae in children with Guillain-Barré syndrome (GBS)., Method: This was a prospective observational study with children from two French tertiary centres. Data were from clinical and several standardized scales or questionnaires., Results: Fifty-one patients were included with a median follow-up of 6 years 4 months (range 3-20 years) after the acute phase. The sequelae rate was 67% (95% confidence interval [CI] 53-78) and did not vary with time. Most children had minor sequelae (Guillain-Barré Syndrome Disability Score [GBSDS] = 1); only one was unable to run (GBSDS = 2). The most frequent complaints were paraesthesia (43%), pain (35%), and fatigue (31%). The neurological examination was abnormal in 18% of children, autonomy was compromised in 14%, and symptoms of depression occurred in 34%. The factors associated with late-onset sequelae were correlated with severity during the initial phase (i.e. initial GBSDS >4, odds ratio 6.6, 95% CI 1.8-33; p = 0.009). The predictive factors of more severe late-onset conditions were initial severity (p = 0.002) and sex (female patients; p = 0.01)., Interpretation: Two-thirds of children with GBS had late-onset sequelae following an episode, often minor, but sometimes with continuing effects on their everyday lives. Particularly affected were those who had severe GBS during the acute phase and who lost the ability to walk., What This Paper Adds: Two-thirds of children with Guillain-Barré syndrome (GBS) had persistent sequelae. Sequelae were often minor, but daily repercussions of them were sometimes serious. Sequelae were significantly associated with severe GBS during the acute phase., (© 2023 The Authors. Developmental Medicine & Child Neurology published by John Wiley & Sons Ltd on behalf of Mac Keith Press.)

Aim: To study long-term clinical and cognitive outcomes of patients with anti-N-methyl-d-aspartate receptor encephalitis (NMDAR-E), an acute autoimmune neurological disease with severe acute presentations., Method: In this French multicentre retrospective observational cohort study, patients no older than 18 years with a follow-up of at least 2 years were included. Data from clinical and cognitive assessments were collected., Results: Eighty-one patients were included (57 females, 24 males; median age 10 years 7 months [range 1-18 years], median follow-up 40 months [range 25-53 months]). At last follow-up, 35 patients (45%) had cognitive impairment, 48 (70%) had academic difficulties, and 65 (92%) needed rehabilitation. Seventy-one patients (88%) had a modified Rankin Scale score of no more than 2. A higher number of symptoms at diagnosis was associated with cognitive impairment (p = 0.01), while an abnormal electroencephalogram at diagnosis increased the risk of academic difficulties (p = 0.03)., Interpretation: Although most children with NMDAR-E seemed to recover from motor disabilities, more than 45% had cognitive and academic difficulties. The initial severity of symptoms seems to have an impact on cognition and academic performances., What This Paper Adds: Forty-five per cent of patients had cognitive impairment at ≥2 years diagnosis of anti-N-methyl-d-aspartate receptor encephalitis (NMDAR-E). Seventy per cent of patients had academic difficulties at ≥2 years diagnosis of NMDAR-E. Ninety-two per cent of patients needed rehabilitative care at ≥2 years diagnosis of NMDAR-E. A high number of symptoms at diagnosis were associated with cognitive impairment., (© 2022 Mac Keith Press.)

Objective: Because of its heterogeneity in clinical presentation and course, predicting autoimmune encephalitis (AIE) evolution remains challenging. Hence, our aim was to explore the correlation of several biomarkers with the clinical course of disease., Methods: Thirty-seven cases of AIE were selected retrospectively and divided into active ( N  = 9), improved ( N  = 12) and remission ( N  = 16) AIE according to their disease evolution. Nine proteins were tested in both serum and cerebrospinal fluid (CSF) at diagnosis (T0) and during the follow-up (T1), in particular activated MMP-9 (MMP-9A) and YKL-40 (or chitinase 3-like 1)., Results: From diagnosis to revaluation, AIE remission was associated with decreased YKL-40 and MMP-9A levels in the CSF, and with decreased NfL and NfH levels in the serum. The changes in YKL-40 concentrations in the CSF were associated with (1) still active AIE when increasing >10% ( P- value = 0.0093); (2) partial improvement or remission when the changes were between +9% and -20% ( P- value = 0.0173); and remission with a reduction > -20% (P- value = 0.0072; overall difference between the three groups: P- value = 0.0088). At T1, the CSF YKL-40 levels were significantly decreased between active and improved as well as improved and remission AIE groups but with no calculable threshold because of patient heterogeneity., Conclusion: The concentration of YKL-40, a cytokine-like proinflammatory protein produced by glial cells, is correlated in the CSF with the clinical course of AIE. Its introduction as a biomarker may assist in following disease activity and in evaluating therapeutic response., Competing Interests: The authors declare no conflict of interest., (© 2023 The Authors. Clinical & Translational Immunology published by John Wiley & Sons Australia, Ltd on behalf of Australian and New Zealand Society for Immunology, Inc.)

Introduction: Guillain-Barré syndrome (GBS) is an acute post-infectious inflammatory polyneuropathy of ubiquitous distribution. Cytomegalovirus (CMV) is the virus that is most frequently involved. All ages are affected but rare pediatric cases seem to show some distinctive features in terms of specificity and severity. Specific antibodies that target the peripheral nervous system have been identified in several forms of GBS in adults, such as anti-GM2 ganglioside antibodies in post-CMV GBS, which in most instances present as demyelinating polyneuropathies, with a more favorable progression and fewer complications., Materials and Methods: This is a retrospective report on two cases of post-CMV GBS with a demyelinating disorder and positive for anti-GM2 IgM. The review of the literature examines five other cases of children with post-CMV GBS with anti-GM2 IgM., Results: In terms of progression, our two cases of post-CMV GBS with a demyelinating disorder and anti-GM2 IgM are similar to the five other cases described in the literature. The CMV infection was asymptomatic or paucisymptomatic and involved girls (6/7), often presenting severe motor forms with frequent loss of the ability to walk (4/6), facial involvement (⅗), little respiratory involvement (⅙), and favorable progression with adapted treatment., Conclusion: Post-CMV GBS with anti-GM2 IgM is a specific clinical spectrum that seems to affect children as it affects adults with a predominance among females, demyelination, and severe motor involvement, but a good prognosis. On the other hand, unlike adults, the use of assisted ventilation does not seem to be more frequent., Competing Interests: None declared., (Thieme. All rights reserved.)

Antiglutamic acid decarboxylase (GAD65) encephalitis is rare and few pediatric cases have been reported, with variable clinical presentations. A 14-year-old female adolescent was managed in our department. She had been treated for several months for drug-resistant temporal lobe epilepsy and gradually presented major anterograde amnesia with confusion. Upon her arrival at the University Hospital Centre, she showed a classical form of stiff person syndrome. The brain magnetic resonance imaging showed bitemporal hyperintensities and hypertrophy of the amygdala. The blood and cerebrospinal fluid were positive for GAD65 antibodies. At 2 years of immunosuppressive treatment and rehabilitation, the course showed partial improvement of the memory and neuropsychiatric impairment, and epilepsy that continued to be active. GAD65 antibodies are associated with various neurological syndromes, and this presentation combining limbic encephalitis and stiff person syndrome is the first pediatric form published to date; there are also few cases described in adults., Competing Interests: None., (Thieme. All rights reserved.)

Background and Objective: PRRT2 variants have been reported in a few cases of patients with hemiplegic migraine. To clarify the role of PRRT2 in familial hemiplegic migraine, we studied this gene in a large cohort of affected probands., Methods: PRRT2 was analyzed in 860 probands with hemiplegic migraine, and PRRT2 variations were identified in 30 probands. Genotyping of relatives identified a total of 49 persons with variations whose clinical manifestations were detailed., Results: PRRT2 variations were found in 12 of 163 probands who previously tested negative for CACNA1A , ATP1A2 , and SCN1A variations and in 18 of 697 consecutive probands screened simultaneously on the 4 genes. In this second group, pathogenic variants were found in 105 individuals, mostly in ATP1A2 (42%), followed by CACNA1A (26%), PRRT2 ( 17%), and SCN1A (15%). The PRRT2 variations included 7 distinct variants, 5 of which have already been described in persons with paroxysmal kinesigenic dyskinesia and 2 new variants. Eight probands had a deletion of the whole PRRT2 gene. Among the 49 patients with variations in PRRT2 , 26 had pure hemiplegic migraine and 16 had hemiplegic migraine associated with another manifestation: epilepsy (8), learning disabilities (5), hypersomnia (4), or abnormal movement (3). Three patients had epilepsy without migraine: 2 had paroxysmal kinesigenic dyskinesia without migraine, and 1 was asymptomatic., Discussion: PRRT2 should be regarded as the fourth autosomal dominant gene for hemiplegic migraine and screened in any affected patient, together with the 3 other main genes. Further studies are needed to understand how the same loss-of-function PRRT2 variations can lead to a wide range of neurologic phenotypes, including paroxysmal movement disorder, epilepsy, learning disabilities, sleep disorder, and hemiplegic migraine., (© 2021 American Academy of Neurology.)

Seventeen-day-old twins were hospitalized for neonatal herpes simplex virus 1 (HSV-1) with central nervous system disease and internal capsule and thalamic lesions on magnetic resonance imaging (MRI). They were treated with the usual intravenous (IV) treatment and oral therapy for 6 months. The clinical course was good in both children with negative HSV polymerase chain reaction on completion of IV therapy. The neurological condition recurred in one child with new radiological lesions at 7 months of age, 2 weeks after discontinuation of oral treatment. Cerebral lesions highlighted on the MRI scan are specific to the neonatal period and impact long-term prognosis. The likely genetic predisposition in this case is interesting and requires further investigation. In addition, this case raises questions about the duration of oral acyclovir suppressive therapy., Competing Interests: None declared., (Georg Thieme Verlag KG Stuttgart · New York.)

Introduction: Guillain-Barré syndrome (GBS) is an inflammatory polyradiculoneuritis. Our aim in this study was to describe the clinical characteristics and the long-term sequelae of GBS in a French pediatric population., Methods: In this multicenter, retrospective study we evaluated clinical signs, radiological examinations, laboratory tests, treatments, and outcomes., Results: One hundred ten children were included in this investigation. These children presented with walking difficulties, muscle weakness, and cranial nerve impairment. Electrodiagnostic testing revealed 70% with acute inflammatory demyelinating polyradiculoneuropathy (AIDP) and 16% with acute motor axonal neuropathy (AMAN). One hundred children received immunoglobulins. At follow-up, 77% were cured, whereas 9% had sequelae, associated with an axonal form (P < .01) and a short interval between symptom onset and hospitalization (P < .01). The need for intubation was correlated with peripheral facial paralysis (P < .01) and dysautonomia (P < .01)., Discussion: Although AIDP and AMAN present in a similar way, the axonal form is associated with a worse outcome., (© 2019 Wiley Periodicals, Inc.)

Head injury is the most common cause of child traumatology. However, there exist no treatment guidelines in children having intracranial lesions due to minor or moderate head trauma. There is little knowledge about monitoring, clinical exacerbation risk factors, or optimal duration of hospitalization. The aim of this retrospective study is to find predictive factors in the clinical course of non-severe head trauma in children, and thus to determine an optimal management strategy. Poor clinical progress was observed in only 4 out of 113 children. When there are no clinical signs and no eating disorders, an earlier discharge is entirely appropriate. Nevertheless, persistent clinical symptoms including headache, vomiting, and late onset seizure, especially in conjunction with hemodynamic disorders such as bradycardia, present a risk of emergency neurosurgery or neurological deterioration. Special attention should be paid to extradural hematoma (EDH) of more than 10 mm, which can have the most severe consequences. Clinical aggravation does not necessarily correlate with a change in follow-up imaging. Conversely, an apparent increase in the brain lesion on the scan is not consistently linked to a pejorative outcome., Competing Interests: The authors declare that they have no conflicts of interest in relation to this article., (Georg Thieme Verlag KG Stuttgart · New York.)

Opso-myoclonus syndrome (OMS) is a very rare and severe condition. Ataxia, opsoclonus, myoclonus and/or behavioral and sleeping disturbances define that autoimmune disorder syndrome which is paraneoplastic or triggered by an infection. Here, we report a 3 year-old immunocompetent boy who developed an atypical OMS which was later complicated by an acute transverse myelitis. Screening for neuroblastoma was negative and extensive infectious screening revealed an active HHV-6 infection confirmed by blood and cerebrospinal fluid PCR. A parainfectious disease was suggested and immunosuppressive treatment was initiated. After 2 years of follow-up, the patient has a left leg paresia needing a splint and is otherwise normal. Transverse myelitis can be associated with parainfectious OMS and earlier immunosuppressive treatment in these cases may be useful especially in young and immunocompetent children., (Copyright © 2018 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.)

Objectives: To identify prognostic factors associated with poor visual recovery and chronic relapsing diseases, for example, multiple sclerosis (MS), in children with optic neuritis (ON) at onset., Methods: This multicentre retrospective study included 102 children with a first ON episode between 1990 and 2012. The primary criterion was poor visual recovery determined by visual acuity, and the secondary was relapses following ON., Results: Median age was 11 years, 66% were girls and mean follow-up was 24 months. 58% of children were diagnosed with idiopathic isolated ON, 22% had MS, 5% had Devic's neuromyelitis optica and 6% chronic relapsing inflammatory ON. Complete visual acuity recovery rate was 57% (95% CI=[46%-69%]) at 6 months and 71% (95% CI=[60%-81%]) at 1 and 2 years but was lower in MS (p<0.01), with recovery rate of only 27% (95% CI=[12%-54%]) at 1 year. Age ≥10 years, optic disc pallor at funduscopy and MS were the principal factors associated with poor visual recovery. Age ≥10 years, abnormal brain MRI at onset and oligoclonal banding were significantly associated with MS (p<0.01)., Conclusion: Age ≥10, optic disc pallor and MS were associated with poor recovery. Better identification of these patients may help to adapt treatment and lead to a prospective treatment study., Competing Interests: Competing interests: This work is a part of medical thesis of the second author, MM., (© Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.)

Objectives: To describe the clinical course, neuroimaging findings and functional outcome of idiopathic spinal cord infarction (SCI) in adolescents., Methods: Retrospective and descriptive analyses of seven patients with idiopathic SCI and 50 additional cases from the literature were included. Data collected concerned clinical presentation, MRI findings, initial diagnosis, treatments and functional outcome at the last medical visit., Results: Mean age at presentation was 13.2years (range 13-15). All patients presented a sudden and painful acute myelopathy with <24h time to maximal symptoms manifestation. A suspected trigger related to a minor effort was reported in 3/7 cases. Six patients presented with paraplegia, one with paraparesis. All had bladder dysfunction needing catheterization. Three patients had an initial misdiagnosis. Initial MRI was considered as normal in 2 cases. In the 5 other cases, T2-weighted-MR images showed hyperintensity within the thoracolumbar spinal cord, affecting mostly the anterior spinal artery territory. Evidence for associated spinal growth dystrophy were present in 6/7 cases. Mean follow-up time was 27.4months (range 3-46): 2 patients recovered autonomous ambulation, 4 patients regained walking ability with aids and one child (the shortest follow-up) remained wheelchair-dependent. A neurogenic bladder was still reported in 6/7 children at the last visit. Complementary analyses with literature cases were consistent with the findings obtained in our cohort., Conclusion: Idiopathic SCI typically occurs in adolescence with a rapid onset and painful acute myelopathy. The MRI shows a T2-hyperintense signal within the spinal cord and provides evidence for an ischemic mechanism. Etiology remains unclear in most cases even though some specific risk factors for this age must play an important role in the pathogenesis, such as mechanical constraints on the immature spine., (Copyright © 2017 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.)

Reversible cerebral vasoconstriction syndrome (RCVS) is characterized by thunderclap headaches with diffuse segmental constriction of cerebral arteries that resolves spontaneously within 3 months. We report on a case of a 13-year-old boy presenting with acute severe headaches, triggered by physical exertion. His past medical history was uneventful. Moderate headache persisted between exacerbations for 4 weeks. He secondarily presented with signs of intracranial hypertension. Brain magnetic resonance angiography (MRA) revealed multifocal narrowing of the cerebral arteries. A glucocorticoid treatment was started based on the hypothesis of primary angiitis of the CNS. The symptoms rapidly improved, and repeat angiography at 3 months showed no vasoconstriction. Although pediatric cases are rare, RCVS should be considered in a child complaining of severe headache, especially after the use of vasoactive drugs or after Valsalva manoeuvres. RCVS is attributed to a transient, reversible dysregulation of cerebral vascular tone, which leads to multifocal arterial constriction and dilation. Physical examination, laboratory values, and initial cranial computed tomography are unremarkable, except when RCVS is associated with complications. Thunderclap headaches tend to resolve and then recur over a 1- to 4-week period, often with a milder baseline headache persisting between acute exacerbations. Angiography shows segmental narrowing and dilatation of one or more arteries, like a string of beads. Despite the absence of a proven treatment, important steps should be taken during the acute phase: removal of precipitants such as vasoactive substances, giving the patient rest, lowering blood pressure, and controlling seizures. Drugs targeted at vasospasms, such as calcium channel inhibitors, can be considered when cerebral vasoconstriction has been assessed. In most patients, the RCVS symptoms resolve spontaneously within days or weeks. Ischemic and hemorrhagic stroke are the major complications of the syndrome. A diagnosis of RCVS can only be confirmed when the reversibility of the vasoconstriction is assessed., (Copyright © 2016 Elsevier Masson SAS. All rights reserved.)

Steroids as a foremost therapy are widely used in pediatric optic neuritis (ON). Yet, this treatment is not standardized to date. Some children show a resistance to the classic treatment by steroids. Although plasma exchange (PE) and immunoadsorption (IA) techniques are increasingly being adopted and lead to good results in resistant cases in adult patients, very few studies have shown interest in treating ON when steroids have failed. In this study, we report four observations of children, two of whom are treated by PE and two by IA techniques, describing the treatment protocols together with the side effects observed., (Georg Thieme Verlag KG Stuttgart · New York.)

In Western populations, especially in France, most severe influenza cases are observed in adults. Some cases are also recorded in children, especially influenza-associated encephalitis. This is contrary to what occurs in Japan where influenza-associated encephalitis is frequent and severe in children. We describe three cases of influenza-associated encephalitis in children who were hospitalized in the pediatric intensive care unit (PICU) during the winter of 2012-2013. The patients did not necessarily show the usual symptoms of influenza and were admitted to the PICU because of their severe neurological symptoms. Two children showed multiple-organ failure, as in the cases reported in Japan. The outcomes ranged from small residual signs to death. These cases remind us that the severe influenza complications that are common in Japan are also seen in France., (Copyright © 2014 Elsevier Masson SAS. All rights reserved.)

Background: Stroke in childhood is less common than stroke in adults, but recent study estimate incidences up to 13/100,000. Mortality is decreasing but morbidity remains very high, with variable effects for two thirds of patients. Recent guidelines for optimal treatment in childhood stroke recommend advise against the use of thrombolysis, except for specific research protocols. There is no recommendation about intra-arterial thrombolysis or mechanical embolectomy. Various investigators have published cases of mechanical embolectomy in adult stroke, and a few cases of children are also reported., Patient: We report a case of mechanical embolectomy 6 hours after a basilar artery occlusion in a healthy 7-year-old child., Result: He presented a successful medical outcome and had made a complete recovery., Conclusion: This patient and the 10 published pediatric cases suggest mechanical embolectomy can be successfully used to treat basilar artery occlusion in children with coordination of neurology and interventional radiology services., (Copyright © 2013 Elsevier Inc. All rights reserved.)

Aim: Because meningitis symptoms are not very specific under the age of 18 months, lumbar puncture (LP) was widely recommended in children presenting a febrile seizure (FS). Recent retrospective studies have challenged this age criterion. In 2011, the American Academy of Pediatrics updated its guidelines for the first episode of simple FS: LP is indicated if signs suggestive of meningitis are present and remains "an option" in case of prior antibiotic treatment or between the age of 6 and 12 months if the child is not properly vaccinated against Haemophilus and Streptococcus pneumoniae. Because the meningitis epidemiology and the vaccination coverage are different, the objective of this study was to evaluate whether these new guidelines were applicable in France., Patients and Methods: Between 2009 and 2010, we conducted a retrospective single-center study including 157 children aged less than 18 months admitted to the pediatric emergency department (Children's Hospital, Toulouse, France) for their first febrile seizure. The data collected were: type of seizure, knowledge of prior antibiotic treatment, neurological status, signs of central nervous system infection, and biological results (LP, blood cultures)., Results: Lumbar puncture was performed in 40% of cases (n=63). The diagnosis of meningitis/encephalitis was selected in eight cases: three cases of viral meningitis, three bacterial meningitis (Streptococcus pneumoniae), and two non-herpetic viral encephalitis. The incidence of bacterial meningitis in our study was 1.9%. The risk of serious infection, bacterial meningitis or encephalitis, was increased when there was a complex FS (14% versus 0% with a simple FS, P=0.06). The presence of other suggestive clinical symptoms was strongly associated with a risk of bacterial meningitis/encephalitis (36% in case of clinical orientation versus 0% in the absence of such signs, P<0.001)., Discussion: All severe clinical presentations were associated with complex FS (prolonged, focal, and/or repeated seizures) and the presence of other suggestive clinical signs (impaired consciousness lasting longer than 1h after the seizure, septic aspect, behavior disorders, hypotonia, bulging fontanel, neck stiffness, petechial purpura). The risk of bacterial meningitis or encephalitis associated with a simple FS and followed by a strictly normal clinical examination is extremely low., Conclusion: After a simple febrile seizure without any other suggestive signs of meningitis, systematic lumbar puncture is not necessary even in children younger than 18 months. LP remains absolutely indicated if clinical symptoms concentrate on central nervous system infection and should be discussed in case of complex seizures, prior antibiotic treatment, or incomplete vaccination., (Copyright © 2013. Published by Elsevier SAS.)

Background: Friedreich ataxia (FA) is the most frequent type of autosomal recessive cerebellar ataxia, occurring at a mean age of 16 years. Nearly 98% of patients with FA present with homozygous GAA expansions in the FXN gene. The remaining patients are compound heterozygous for an expansion and a point mutation. Patients who are compound heterozygous for an exonic deletion and an expansion are exquisitely rare., Objectives: To describe 6 patients affected with FA due to an exonic deletion mutation (FAexdel) and to compare these 6 patients with FAexdel with 46 patients consecutively diagnosed with typical FA due to homozygous GAA expansion and whose small expansions were within the same range as that of the expansions of the patients with FAexdel., Design: Description of a series., Setting: Academic research., Patients: Six patients with FAexdel and 46 patients with typical FA., Intervention: FXN gene analysis, including assessments of GAA expansion and exon sequencing and determination of exonic copy numbers using multiplex ligation-dependent probe amplification., Results: We identified 6 patients with FA who presented with the combination of 1 GAA expansion and 1 FXN exonic deletion. The mean (SD) age at onset of the disease was earlier for patients with FAexdel (7 [4] years [range, 3-12 years]) than for patients with typical FA (15 [5] years [range, 6-30 years]) (P = .001), and the median time to confinement to wheelchair was shorter for patients with FAexdel (20 years) than for patients with typical FA (28 years) (P = .002). There was no difference between the mean (SD) size of the expansion for the patients with FAexdel (780 [256] GAA triplet repeat sequences [range, 340-1070 GAA triplet repeat sequences]) and the mean (SD) size of the short expansion for the patients with typical FA (634 [163] GAA triplet repeat sequences [range, 367-1000 GAA triplet repeat sequences]) (P = .10). The mean disease duration before becoming wheelchair bound was shorter for patients with FAexdel (9 years) than for patients with typical FA (13 years), and the incidence of cardiomyopathy was higher for patients with FAexdel (84%) than for patients with typical FA (68%). However, these differences were not significant, probably owing to the small size of the FAexdel group. The other extraneurological signs, such as scoliosis or diabetes mellitus, were particularly frequently observed in the FAexdel group. One patient presented at 9 years of age with severe angina and marked cardiomyopathy that confined her to a wheelchair. Three patients had disabling autonomic disturbances. It appears that exonic deletion significantly contributes to the clinical picture of patients with FA., Conclusions: Friedreich ataxia due to an exonic deletion mutation corresponds to an early onset and severe variant of FA. FXN should be investigated for exonic deletion in patients with early-onset FA in which only 1 GAA expansion without a point mutation is found. Patients with FAexdel have to be carefully observed using cardiological, orthopaedic, endocrinological, gastroenterological, and ophthalmological data. Friedreich ataxia due to an exonic deletion mutation should be suspected in young patients presenting with severe scoliosis.

We describe the case of a 10-year-old child with the acute motor axonal neuropathy (AMAN) form of Guillain-Barré syndrome (GBS) with preserved tendon reflexes, 6 days after a bout of gastroenteritis. The child quickly showed weakness of the distal muscles of his four limbs, with preserved tendon reflexes and a raised CSF protein concentration with no cells. Nerve conduction studies showing motor axonal degeneration confirmed the diagnosis of GBS in spite of preserved tendon reflexes. The serum was positive for IgG antibodies to gangliosides GM1 and GD1b. The child received intravenous immunoglobulins, which resulted in a favorable progression. This case proves that GBS with normal tendon reflexes exists. The other cases of SGB with preserved tendon reflexes already described in the literature were the AMANs form with antibodies to gangliosides in the serum and only adults were affected., (Copyright © 2011. Published by Elsevier SAS.)

Objective: To test the hypothesis that predisposition to childhood herpes simplex virus (HSV) type 1 encephalitis (HSE) may be determined in part by human genetic factors., Study Design: A genetic epidemiologic survey of childhood HSE (onset at age 3 months to 15 years) over a 20-year period (1985-2004) was conducted throughout France (comprising 29 university hospital neuropediatric centers). A total of 85 children fulfilled the diagnostic criteria for inclusion. Family and personal histories were obtained by face-to-face interview for 51 patients., Results: No familial cases of HSE were identified in our survey; however, a high proportion (20%) of the children interviewed had a relevant family history: parental consanguinity (12% of patients), early-onset herpetic keratitis in a first-degree relative (6%), or both (2%). The narrow window of high susceptibility to HSE before age 3 years (62% of patients) further indicates that predisposition to HSE is tightly age-dependent., Conclusions: This survey suggests that childhood HSE, although sporadic, may result from Mendelian predisposition (from autosomal recessive susceptibility in particular), at least in some children. There likely is incomplete penetrance, however, which may reflect, at least in part, the impact of age at the time of HSV-1 infection., (Copyright (c) 2010 Mosby, Inc. All rights reserved.)

We describe a rare case of Influenza B-associated encephalopathy with hemorrhagic lesions of the corpus callosum. A 12-year-old Caucasian girl presented a 24-h fever followed by partial seizure, secondarily generalized, and disturbance of consciousness. Magnetic resonance imaging on Day 2 of her illness showed two hemorrhagic lesions of the corpus callosum. The Influenza B virus was found on nasopharyngeal swab. Neurologic signs had completely recovered by Day 3. A review of the literature identified a few similar cases; the common features include a relatively older age and prompt and complete recovery from clinical symptoms. This is the first report to describe hemorrhagic lesions of the corpus callosum in influenza., (Copyright 2010 Elsevier Masson SAS. All rights reserved.)

Dravet syndrome (DS) is a genetically determined epileptic encephalopathy mainly caused by de novo mutations in the SCN1A gene. Since 2003, we have performed molecular analyses in a large series of patients with DS, 27% of whom were negative for mutations or rearrangements in SCN1A. In order to identify new genes responsible for the disorder in the SCN1A-negative patients, 41 probands were screened for micro-rearrangements with Illumina high-density SNP microarrays. A hemizygous deletion on chromosome Xq22.1, encompassing the PCDH19 gene, was found in one male patient. To confirm that PCDH19 is responsible for a Dravet-like syndrome, we sequenced its coding region in 73 additional SCN1A-negative patients. Nine different point mutations (four missense and five truncating mutations) were identified in 11 unrelated female patients. In addition, we demonstrated that the fibroblasts of our male patient were mosaic for the PCDH19 deletion. Patients with PCDH19 and SCN1A mutations had very similar clinical features including the association of early febrile and afebrile seizures, seizures occurring in clusters, developmental and language delays, behavioural disturbances, and cognitive regression. There were, however, slight but constant differences in the evolution of the patients, including fewer polymorphic seizures (in particular rare myoclonic jerks and atypical absences) in those with PCDH19 mutations. These results suggest that PCDH19 plays a major role in epileptic encephalopathies, with a clinical spectrum overlapping that of DS. This disorder mainly affects females. The identification of an affected mosaic male strongly supports the hypothesis that cellular interference is the pathogenic mechanism., Competing Interests: The authors have declared that no competing interests exist.

Developmental dyslexia is a heterogeneous syndrome with a phonological core deficit and frequent association with other developmental disorders. Controversies exist about the influence of motor difficulties frequently encountered in dyslexia. According to different theoretical approaches, these motor impairments would reflect either a frequent co-morbid entity or a cerebellar dysfunction that could constitute the causal factor of reading disabilities. The principal aim of this study was to determine the frequency of motor impairments in a population of children with phonological dyslexia and specify possible links with attention deficit. We analysed retrospectively motor and attention abilities of 58 children with phonological dyslexia. An important sub-group of children with dyslexia (40-57% depending on the severity of motor difficulties) presented a motor impairment affecting co-ordination, balance and manual dexterity suggesting a cerebellar dysfunction. There was a significant association between attention deficit and motor impairments, with a specific impact on balance and co-ordination deficits. The comparison of performance in four groups defined according to the presence versus absence of attention deficit and motor impairment, respectively, were not in favour of a unequivocal causal link between reading disabilities and motor or attention disorders.

Unlabelled: We report a case of an accidental intoxication in a 20-month-old boy resulting from the ingestion of a rodenticide containing alpha-chloralose., Case Report: Three hours after initial admission to the pediatric emergency department for wheezing bronchitis, this patient was readmitted with a clinical presentation of respiratory insufficiency, a Glasgow coma score of 9 alternating with agitation, areflexia and unilateral mydriasis. Parental interview revealed he had episodes of shaking in the afternoon. Chest x-ray showed thoracic distension. Blood investigations, electrocardiogram, cardiac echography, brain CT scan and CSF were normal. Electroencephalography registered slow delta waves 2-3 cycles/min and an aspect of degraded waves and spikes. The patient was transferred to the intensive care unit where he fully recovered within 48 hours. A second parental interview and clinical presentation confirmed an intoxication with a rodenticide containing alpha-chloralose. The late clinical orientation did not allow us to perform a urinanalysis., Discussion: Clinical association of coma, spontaneous or triggered myoclonias and bronchial hypersecretion are indicative of chloralose intoxication. Presence of specific abnormalities on electroencephalogram and a positive Fujiwara-Ross reaction in an urine sample are additional elements for the diagnosis. The prognosis is usually good after early management which combines gastric lavage, activated charcoal, sedation with benzodiazepines, tracheal intubation and artificial ventilation if required. Severe clinical cases described in voluntary intoxications in adults and teenagers occur very rarely in toddlers.