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IAO01 Disease course after a first demyelinating attack in children
24 Infection
Abstracts: Oral Presentations, Seventh European Paediatric Neurology Society (EPNS) Congress autoimmune
IAO01 Disease course after a first demyelinating attack in children R. Neuteboom1 *, C. Catsman1 , M. Boon2 , E. Hoogervorst2 , H. Vles2 , R. Gooskens2 , J. Rotteveel2 , H. Stroink2 , B.T. PollThe2 , E. Peeters2 , W.C.G. Overweg-Plandsoen2 , J. De Rijk2 , A. Verrips2 , R. Hintzen1 . 1 Erasmus MC, Rotterdam, 2 Dutch studygroup on Childhood ADEM and MS, the Netherlands Objective: To investigate disease course after a first demyelinating attack of the CNS. Study-design: A retrospective multi centre study in the Netherlands of children (age under 16 years) with a first demyelinating attack. Methods: Clinical data were collected from patient records. Brain MRI’s were re-evaluated. Results: 115 patients were included with a median followup of 23 months. 59 had an initial diagnosis of ADEM and 56 an initial diagnosis of CIS. Progression to CD-MS after an initial ADEM attack was observed in 13 out of 59 children. Progression to CD-MS after a CIS was seen in 23 out of 56 children. A final diagnosis of ADEM was significantly associated with an earlier age of onset, seizures, encephalopathy, a preceding infection and large lesions on MRI. The presence of at least 3 out of 4 Barkhof MRI criteria was significantly predictive of developing CD-MS as was the presence of only well defined lesions and corpus callosum perpendicular lesions (KIDMUS criteria). 21 out of 36 MS patients had a third attack during follow-up. A third attack during follow up was significantly associated with scoring at least 3 out of 4 Barkhof criteria, but not with type of onset. IAO02 Acute cerebellar ataxia Z. Liptai *. Szent Laszlo Hospital for Infectious Diseases, Hungary Acute cerebellar ataxia (ACA) is a coordination disorder of acute onset, usually preceded by an infection. It is the most common para/postinfectious central nervous system illness in children. The disease is benign and self-limiting, but may have sequelae. Authors retrospectively analysed own experiences. From 1998 to 2006 89 episodes of 88 children (41 boys, 47 girls) were seen at Szent Laszlo Hospital. Their average age was 4.2 years. 46 patients had chickenpox, while 42 had an unspecific viral illness or vaccination prior to the onset of ACA. One girl had neuroblastoma. Instability progressed to inability of ambulation in 39 cases. Vomiting (51), somnolence (28), headache (25) and speech disorder (19) were other typical signs. Truncal ataxia was present in all, limb ataxia in 37 cases. Hypotonia was a frequent finding (33). Neuroimaging (13 CT, 5 MRI) was normal, except for 1 girl with diffuse cerebellar hyperintensity on MRI. EEG was performed in 44; diffuse alteration was seen in 13 cases. 75 patients were hospitalized. Coordination returned to normal in an average of 23.3 days, less rapidly in postvaricella cases. The symptomatology and clinical course was similar to those published by others, however, sequelae did not develop. IAO03 Genetic susceptibility to herpes encephalitis in children M. Tardieu *, E. Jouanguy, S.Y. Zhang, S. Plancoulaine, L. Lorenzo, V. Sancho-Shimizu, L. Abel, J.-L. Casanova. Universit´e Paris Sud et Paris Necker, Paris, France To test the hypothesis that host genetic factors play a role in the pathogenesis of HSE, we evaluated clinical and familial features of 85 patients reported with HSE between 1 mo and 16 ye in France since 1985. Thirty-eight (45%) patients presented HSE before 1 year of age and 54 (64%) before 3 years. Fever (>38º5C) was observed in 93% of patients and
seizures in 92% at onset (48% status epilepticus). In CSF, cells count was elevated in 72%, protein in 37% and interferon (IFN)-a in 65%. 51 families could be reached and interviewed for outcome, herpes infection in relatives and family tree. The consanguinity rate was high (14%), 5 first degree relatives of patients suffered of severe and recurrent herpes keratitis. In patients with familial antecedents, the number of cells in CSF tended to be lower and the proportion of patients with undetectable IFN-a in CSF, significantly higher (p < 0.04). A specific search of mutation was carried out by evaluating specifically children whose lymphocytes did not produced IFN-a after different stimulations. This led to the discovery of two different mutations (Casrouge et al Science, 314:308 312, 2006 and Zhang et al in revision). Finally the long term evolution of patients will be presented.
Movement Disorders MDO01 Multiple causes of tonic eye deviations in childhood L. Blumkin1 *, S. Kivity1 , D. Lev2 , T. Lerman-Sagie1 . 1 Pediatric Neurology Unit, 2 Medical Genetics Institute, Wolfson Medical Center, Holon, Israel Abnormal eye movements are common in children and may either be sustained or paroxysmal. Paroxysmal eye movements may present as tonic eye deviation, nystagmus or strabismus. The regulation of eye movements occurs at different levels of the nervous system. Abnormal ocular motility may be a presentation of structural brain or cranial nerve lesions, channelopathies, neurotransmitter disorders, and epileptic events. Conjugate eye-movement tics and simple motor stereotypies are not uncommon and may also present as paroxysmal eye movements in very young children. We report ten patients with paroxysmal tonic eye deviations. The patients underwent an evaluation which included metabolic studies, CSF for neurotransmitters, video-EEG and neuroimaging. Although the presenting phenomenon was similar in these cases, different disorders were diagnosed: Alternating Hemiplegia of Childhood (1), Ohtahara syndrome (1), complex partial seizures (1), drug induced acute dystonia (1), postpump chorea and acute hydrocephalus (1), oculo-motor stereotypies and tics (3), intermittent exotropia (1), and a new syndrome of leukoencephalopathy with paroxysmal tonic upward gaze (1). Clinical improvement was achieved only after the correct diagnosis was made. Conclusion: Tonic eye deviation is a non-specific phenomenon and may be part of different neurological disorders. The use of video-EEG allows determining the nature of the event, and differentiation between epileptic and nonepileptic events. Neuroimaging, metabolic and genetic tests help in elucidating the etiological diagnosis. MDO02 Drug-induced movement disorders D. Craiu1 *, S. Magureanu1 , I. Dobrescu2 . 1 Pediatric Neurology Clinic, 2 Psychiatry for Children and Adolescents Clinic, Carol Davila University of Medicine, Al. Obregia Hospital, c Introduction: Drug-induced movement disorders are very frequent in pediatric, neurological and psychiatric clinical practice. Still, some of them can be avoided if adverse reactions to certain medication are known. Purpose: This paper presents acute and chronic drug-induced movement disorders (postural tremor, chorea, athetosis, acute dystonic reaction, tardive dyskinezia, neuroleptic malignant syndrome, akathisia, parkinsonism, but also tics,
Abstracts: Oral Presentations, Seventh European Paediatric Neurology Society (EPNS) Congress autoimmune
IAO01 Disease course after a first demyelinating attack in children R. Neuteboom1 *, C. Catsman1 , M. Boon2 , E. Hoogervorst2 , H. Vles2 , R. Gooskens2 , J. Rotteveel2 , H. Stroink2 , B.T. PollThe2 , E. Peeters2 , W.C.G. Overweg-Plandsoen2 , J. De Rijk2 , A. Verrips2 , R. Hintzen1 . 1 Erasmus MC, Rotterdam, 2 Dutch studygroup on Childhood ADEM and MS, the Netherlands Objective: To investigate disease course after a first demyelinating attack of the CNS. Study-design: A retrospective multi centre study in the Netherlands of children (age under 16 years) with a first demyelinating attack. Methods: Clinical data were collected from patient records. Brain MRI’s were re-evaluated. Results: 115 patients were included with a median followup of 23 months. 59 had an initial diagnosis of ADEM and 56 an initial diagnosis of CIS. Progression to CD-MS after an initial ADEM attack was observed in 13 out of 59 children. Progression to CD-MS after a CIS was seen in 23 out of 56 children. A final diagnosis of ADEM was significantly associated with an earlier age of onset, seizures, encephalopathy, a preceding infection and large lesions on MRI. The presence of at least 3 out of 4 Barkhof MRI criteria was significantly predictive of developing CD-MS as was the presence of only well defined lesions and corpus callosum perpendicular lesions (KIDMUS criteria). 21 out of 36 MS patients had a third attack during follow-up. A third attack during follow up was significantly associated with scoring at least 3 out of 4 Barkhof criteria, but not with type of onset. IAO02 Acute cerebellar ataxia Z. Liptai *. Szent Laszlo Hospital for Infectious Diseases, Hungary Acute cerebellar ataxia (ACA) is a coordination disorder of acute onset, usually preceded by an infection. It is the most common para/postinfectious central nervous system illness in children. The disease is benign and self-limiting, but may have sequelae. Authors retrospectively analysed own experiences. From 1998 to 2006 89 episodes of 88 children (41 boys, 47 girls) were seen at Szent Laszlo Hospital. Their average age was 4.2 years. 46 patients had chickenpox, while 42 had an unspecific viral illness or vaccination prior to the onset of ACA. One girl had neuroblastoma. Instability progressed to inability of ambulation in 39 cases. Vomiting (51), somnolence (28), headache (25) and speech disorder (19) were other typical signs. Truncal ataxia was present in all, limb ataxia in 37 cases. Hypotonia was a frequent finding (33). Neuroimaging (13 CT, 5 MRI) was normal, except for 1 girl with diffuse cerebellar hyperintensity on MRI. EEG was performed in 44; diffuse alteration was seen in 13 cases. 75 patients were hospitalized. Coordination returned to normal in an average of 23.3 days, less rapidly in postvaricella cases. The symptomatology and clinical course was similar to those published by others, however, sequelae did not develop. IAO03 Genetic susceptibility to herpes encephalitis in children M. Tardieu *, E. Jouanguy, S.Y. Zhang, S. Plancoulaine, L. Lorenzo, V. Sancho-Shimizu, L. Abel, J.-L. Casanova. Universit´e Paris Sud et Paris Necker, Paris, France To test the hypothesis that host genetic factors play a role in the pathogenesis of HSE, we evaluated clinical and familial features of 85 patients reported with HSE between 1 mo and 16 ye in France since 1985. Thirty-eight (45%) patients presented HSE before 1 year of age and 54 (64%) before 3 years. Fever (>38º5C) was observed in 93% of patients and
seizures in 92% at onset (48% status epilepticus). In CSF, cells count was elevated in 72%, protein in 37% and interferon (IFN)-a in 65%. 51 families could be reached and interviewed for outcome, herpes infection in relatives and family tree. The consanguinity rate was high (14%), 5 first degree relatives of patients suffered of severe and recurrent herpes keratitis. In patients with familial antecedents, the number of cells in CSF tended to be lower and the proportion of patients with undetectable IFN-a in CSF, significantly higher (p < 0.04). A specific search of mutation was carried out by evaluating specifically children whose lymphocytes did not produced IFN-a after different stimulations. This led to the discovery of two different mutations (Casrouge et al Science, 314:308 312, 2006 and Zhang et al in revision). Finally the long term evolution of patients will be presented.
Movement Disorders MDO01 Multiple causes of tonic eye deviations in childhood L. Blumkin1 *, S. Kivity1 , D. Lev2 , T. Lerman-Sagie1 . 1 Pediatric Neurology Unit, 2 Medical Genetics Institute, Wolfson Medical Center, Holon, Israel Abnormal eye movements are common in children and may either be sustained or paroxysmal. Paroxysmal eye movements may present as tonic eye deviation, nystagmus or strabismus. The regulation of eye movements occurs at different levels of the nervous system. Abnormal ocular motility may be a presentation of structural brain or cranial nerve lesions, channelopathies, neurotransmitter disorders, and epileptic events. Conjugate eye-movement tics and simple motor stereotypies are not uncommon and may also present as paroxysmal eye movements in very young children. We report ten patients with paroxysmal tonic eye deviations. The patients underwent an evaluation which included metabolic studies, CSF for neurotransmitters, video-EEG and neuroimaging. Although the presenting phenomenon was similar in these cases, different disorders were diagnosed: Alternating Hemiplegia of Childhood (1), Ohtahara syndrome (1), complex partial seizures (1), drug induced acute dystonia (1), postpump chorea and acute hydrocephalus (1), oculo-motor stereotypies and tics (3), intermittent exotropia (1), and a new syndrome of leukoencephalopathy with paroxysmal tonic upward gaze (1). Clinical improvement was achieved only after the correct diagnosis was made. Conclusion: Tonic eye deviation is a non-specific phenomenon and may be part of different neurological disorders. The use of video-EEG allows determining the nature of the event, and differentiation between epileptic and nonepileptic events. Neuroimaging, metabolic and genetic tests help in elucidating the etiological diagnosis. MDO02 Drug-induced movement disorders D. Craiu1 *, S. Magureanu1 , I. Dobrescu2 . 1 Pediatric Neurology Clinic, 2 Psychiatry for Children and Adolescents Clinic, Carol Davila University of Medicine, Al. Obregia Hospital, c Introduction: Drug-induced movement disorders are very frequent in pediatric, neurological and psychiatric clinical practice. Still, some of them can be avoided if adverse reactions to certain medication are known. Purpose: This paper presents acute and chronic drug-induced movement disorders (postural tremor, chorea, athetosis, acute dystonic reaction, tardive dyskinezia, neuroleptic malignant syndrome, akathisia, parkinsonism, but also tics,