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4PS2.3 Tick-borne encephalitis (TBE) in children
Plenary sessions 4PS2.3 Tick-borne encephalitis (TBE) in children 2 1 ˇ . Department of M. Pokorn1 *, M. Rozi ˇ cˇ 1 , T. Avˇsicˇ Zupanc Infectious Diseases, University Medical Centre Ljubljana, Slovenia, 2 Institute of Microbiology and Immunology, University of Ljubljana, Slovenia
Background: TBE is an important CNS infection that can have a severe course with permanent sequelae. Aims: To study clinical and laboratory features and outcome in children hospitalized with TBE at our institution. Methods: A retrospective analysis of all children <15 years of age with TBE, hospitalised at our Department from January 1, 2007 to December 31, 2010. TBE was defined by compatible clinical picture, elevated CSF leukocyte count (>5×106 /L) and the presence of IgM and IgG antibodies to TBE virus in acute serum. All patients were assessed also for Borrelia burgdorferi sensu lato infection (serology, blood and CSF culture). Patients were followed at 1, 3 and 6 months post-discharge. Results: In a 4-year period, 47 children with TBE were seen, 26 (55%) were boys. The average age was almost 9 years. There were wide fluctuations in the case numbers with 19 cases in 2009 and 6 cases in 2010. The majority of cases (17; 36%) occurred in July. Fifteen (32%) patients had meningitis, 29 (64%) encephalitis and 2 (4%) encephalomyelitis. The disease course was severe in 5 patients. One child required mechanical ventilation and remained severely handicapped. Nine (19%) children also had evidence of borrelia infection. Two children developed TBE despite having received 2 doses of TBE vaccine in the same year. Conclusion: Although mild in most cases, TBE in children can have a severe course with permanent sequelae. In our patient series, 2 (4%) children contracted TBE after incomplete immunization.
4PS3. Late breaking news session & 40th Croatian Child Neurology Society Symposium 4PS3.1 Mutant GlialCAM causes Megalencephalic Leukoencephalopathy with Subcortical Cysts (MLC), benign familial macrocephaly, and macrocephaly with mental retardation with or without autism 2 1 M.S. van der Knaap1 *, G.C. Scheper1 , R. Estevez . Department ´ of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands, 2 Seccion ´ de Fisiolog´ıa, Departamento de Ciencias Fisiologicas II, University of Barcelona, Spain Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a leukodystrophy characterized by early-onset macrocephaly and delayed onset neurological deterioration. Recessive MLC1 mutations are observed in approximately 75% of the patients. Genetic linkage studies failed to identify another gene. We recently showed that some patients without MLC1 mutations display the classical phenotype; others improve or become normal but retain macrocephaly. In search for another MLC-related gene, we used quantitative proteomic analysis of affinity-purified MLC1 as alternative approach and found that GlialCAM, an IgG-like cell adhesion molecule that is also called HepaCAM, encoded by HEPACAM, is a direct MLC1-binding partner. Analysis of 40 MLC patients without MLC1 mutations revealed multiple different HEPACAM mutations. Ten patients with the classical, deteriorating phenotype had two mutations and 18 patients with the improving phenotype had one. Most parents with a single mutation had macrocephaly, indicating dominant inheritance. In some families with dominant HEPACAM mutations, the clinical picture and MRI normalized, indicating that HEPACAM mutations may cause benign familial macrocephaly. In other families with dominant HEPACAM mutations, patients had macrocephaly
S9 and mental retardation with or without autism. Further experiments demonstrated that GlialCAM and MLC1 colocalize in junctions between astrocytes. Mutant GlialCAM disrupts the localization of MLC1 GlialCAM complexes in astrocytic junctions in a manner reflecting the mode of inheritance. In conclusion, GlialCAM is required for proper localization of MLC1. HEPACAM is the second MLC gene. Dominant HEPACAM mutations can cause transient MLC, benign familial macrocephaly, and macrocephaly, mental retardation with or without autism.
Background: TBE is an important CNS infection that can have a severe course with permanent sequelae. Aims: To study clinical and laboratory features and outcome in children hospitalized with TBE at our institution. Methods: A retrospective analysis of all children <15 years of age with TBE, hospitalised at our Department from January 1, 2007 to December 31, 2010. TBE was defined by compatible clinical picture, elevated CSF leukocyte count (>5×106 /L) and the presence of IgM and IgG antibodies to TBE virus in acute serum. All patients were assessed also for Borrelia burgdorferi sensu lato infection (serology, blood and CSF culture). Patients were followed at 1, 3 and 6 months post-discharge. Results: In a 4-year period, 47 children with TBE were seen, 26 (55%) were boys. The average age was almost 9 years. There were wide fluctuations in the case numbers with 19 cases in 2009 and 6 cases in 2010. The majority of cases (17; 36%) occurred in July. Fifteen (32%) patients had meningitis, 29 (64%) encephalitis and 2 (4%) encephalomyelitis. The disease course was severe in 5 patients. One child required mechanical ventilation and remained severely handicapped. Nine (19%) children also had evidence of borrelia infection. Two children developed TBE despite having received 2 doses of TBE vaccine in the same year. Conclusion: Although mild in most cases, TBE in children can have a severe course with permanent sequelae. In our patient series, 2 (4%) children contracted TBE after incomplete immunization.
4PS3. Late breaking news session & 40th Croatian Child Neurology Society Symposium 4PS3.1 Mutant GlialCAM causes Megalencephalic Leukoencephalopathy with Subcortical Cysts (MLC), benign familial macrocephaly, and macrocephaly with mental retardation with or without autism 2 1 M.S. van der Knaap1 *, G.C. Scheper1 , R. Estevez . Department ´ of Child Neurology, VU University Medical Center, Amsterdam, The Netherlands, 2 Seccion ´ de Fisiolog´ıa, Departamento de Ciencias Fisiologicas II, University of Barcelona, Spain Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a leukodystrophy characterized by early-onset macrocephaly and delayed onset neurological deterioration. Recessive MLC1 mutations are observed in approximately 75% of the patients. Genetic linkage studies failed to identify another gene. We recently showed that some patients without MLC1 mutations display the classical phenotype; others improve or become normal but retain macrocephaly. In search for another MLC-related gene, we used quantitative proteomic analysis of affinity-purified MLC1 as alternative approach and found that GlialCAM, an IgG-like cell adhesion molecule that is also called HepaCAM, encoded by HEPACAM, is a direct MLC1-binding partner. Analysis of 40 MLC patients without MLC1 mutations revealed multiple different HEPACAM mutations. Ten patients with the classical, deteriorating phenotype had two mutations and 18 patients with the improving phenotype had one. Most parents with a single mutation had macrocephaly, indicating dominant inheritance. In some families with dominant HEPACAM mutations, the clinical picture and MRI normalized, indicating that HEPACAM mutations may cause benign familial macrocephaly. In other families with dominant HEPACAM mutations, patients had macrocephaly
S9 and mental retardation with or without autism. Further experiments demonstrated that GlialCAM and MLC1 colocalize in junctions between astrocytes. Mutant GlialCAM disrupts the localization of MLC1 GlialCAM complexes in astrocytic junctions in a manner reflecting the mode of inheritance. In conclusion, GlialCAM is required for proper localization of MLC1. HEPACAM is the second MLC gene. Dominant HEPACAM mutations can cause transient MLC, benign familial macrocephaly, and macrocephaly, mental retardation with or without autism.