DOI : 10.1055/s-00000041

Neuropediatrics

Issue S 1 · Volume 37 · 2006 DOI: 10.1055/s-002-4877


10th International Child Neurology Congress (ICNC)
Montreal, Canada, 11–16, June 2006

Chairman: Michael Shevell, Montreal, Canada
Abstracts (HTML) List of Authors
MP100
Vaz, S.; Chodirker, B.; Seabrook, J.; Prasad, C.; Chudley, A.; Prasad, A.: RISK FACTORS FOR THE DEVELOPMENT OF HOLOPROSENCEPHALY: A MANITOBA-BASED CASE-CONTROL STUDY
MP101
Weng, S. M.; Hsiao, C. C.; Lee, D. C.; Huang, C. T.; Hsu, C. S.; Shen, E. Y.; Chiu, W. T.; Shih, D. T. B.: ISOLATION AND CHARACTERIZATION OF STEM/ PROGENITOR CELLS FROM HUMAN AMNION – POSSIBLE APPLICATION OF NEURAL REPAIR IN THE FUTURE
MP102
Berger, I.; Elpeleg, O.; Ben-Zeev, B.; Saada-Reich, A.; Shalev, R. S.; Nevo, Y.: AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY (AADC) –3 UNUSUAL CASE REPORTS
MP103
Demos, M.; Farrell, K.; Nelson, T.; Chapman, K.; Armstrong, L.: A NOVEL KCNA1 MUTATION CAUSES EPISODIC ATAXIA TYPE 1 WITH PERSISTENT CEREBELLAR DEFICITS
MP104
Moodley, S.; Rothner, A. D.: SEGMENTAL NEUROFIBROMATOSIS (SNF) IN CHILDREN, ADOLESCENTS, AND YOUNG ADULTS (C-A-YA)
MP105
Jansen, A.; De Raedemaeker, M.; De Meirleir, L.; Seneca, S.: DUPLICATION OF MECP2 IN A GIRL WITH RETT SYNDROME VARIANT
MP106
Mahmood, A.; Brereton, N.; Jones, R.; Moser, A.; Raymond, G. V.; Moser, H. W.: LORENZO'S OIL WITH DIET THERAPY DOES NOT AFFECT THE GROWTH OF ASYMPTOMATIC ALD BOYS
MP107
Ruggieri, V.; Yerga, A.; Tringler, N.; De los Santos, C.; Iurescia, A.; Di Palma, L.: SEPTO-OPTIC DYSPLASIA – A CLINICAL SPECTRUM DEFINITION IN 54 CASES
MP108
Arpino, C.; Saccucci, P.; Palmarino, M.; Volzone, A.; D'Argenzio, L.; Galasso, C.; Curatolo, P.: ROLE OF -850 TNF-Á AND PSEN1 IN DOWN SYNDROME-RELATED DEMENTIA
MP109
Arpino, C.; Saccucci, P.; Volzone, A.; Lalli, C.; Rizzo, R.; Gagliano, A.; Rosso, M.; Galasso, C.; Curatolo, P.: NEUROBIOLOGICAL CAUSES OF MILD MENTAL RETARDATION: THE ROLE OF ADENOSINE DEAMINASE POLYMORPHISM
MP110
Biancheri, R.; Zara, F.; Rossi, A.; Bruno, C.; Bordo, L.; Gianotti, S.; Assereto, S.; Stringara, S.; Tortori-Donati, P.; Uziel, G.; van der Knaap, M. S.; Minetti, C.: A NOVEL WHITE MATTER DISORDER WITH CEREBRAL HYPOMYELINATION AND CONGENITAL CATARACT
MP111
Mahajnah, M.; Lev Lev, D.; Blumkin, L.; Watemberg, N.; Lerman-Sagie, T.: ASSOCIATION OF PARIETO-OCCIPITAL POLYMICROGYRIA, CHIARI MALFORMATION TYPE 1 AND SYRINGOMYELIA
MP112
Hwang, P.; Katchan, B.; Mamelak, M.: ALTERNATING HEMIPLEGIA OF CHILDHOOD: RATIONALE FOR THERAPY WITH GAMMA-HYDROXY-BUTYRATE
MP113
Huntsman, R. J.; Seshia, S.; Lowry, N.; Lemire, E.; Harder, S.: PERIPHERAL NERVE INVOLVEMENT IN A CHILD WITH CREE LEUKODYSTROPHY
MP80
De Meirleir, L.; Benatar, A.; Van Hulle, A.; Van Berlaer, G.: ENZYME REPLACEMENT THERAPY IN MPS1
MP81
Simonati, A.; Tessa, A.; Piemonte, F.; Carrera, F.; Santorelli, F. M.: LATE INFANTILE NEURONAL CEROID-LIPOFUSCINOSIS AND ITS VARIANTS
MP82
Eichler, F.; D'Arceuil, H.; Selig, M. K.; Frosch, M.; Powers, J.; de Crespigny, A.: AXONAL ABNORMALITIES IN THE BRAIN OF THE ABCD1 KNOCKOUT MOUSE, AN ANIMAL MODEL OF X-LINKED ADRENOLEUKODYSTROPHY
MP83
Amlie-Lefond, C.; Eells, J.; Wong-Riley, M.; Das, R.; Jett, M.; VerHoeve, J.; Whelan, H.: PHOTOMODULATION OF CYTOCHROME OXIDASE
MP84
Beni, S. M.; Hoffmann, C.; Goshen, E.; Friedman, M.; Ben-Zeev, B.: STROKE-LIKE EPISODES IN RARE NEUROCUTANEOUS SYNDROMES
MP85
Baxter, P.; Rotsaert, M.; Rigby, A. S.; Steele, B. D.; Wright, I.: ACQUIRED MICROCEPHALY: PATTERNS, CAUSES AND EFFECTS
MP86
Bao, X.; Ping, L.; Wang, A.; Pan, H.; Wu, Y.; Xiong, H.; Zhang, Y.; Qin, J.; Wu, X.: THE GENOTYPE AND PHENOTYPE STUDIES OF 40 CHINESE PATIENTS WITH X-ALD
MP87
Takano, T.; Akahori, S.; Takeuchi, Y.: NEURONAL APOPTOSIS AND RESULTANT MICROCEPHALY WITH CORTICAL DYSPLASIA PRODUCED BY CYTOSINE ARABINOSIDE IN MICE
MP88
Liang, J.; Sung, C. C.; Lu, J. F.: NOVEL MUTATIONS IN THE ABCD1 GENE OF TWO TAIWANESE PATIENTS WITH ADRENOLEUKODYSTROPHY
MP89
Zelnik, N.; Mahajnah, M.; Iancu, T. C.; Ziegler, M.: VARIANT LATE INFANTILE NEURONAL CEROID LIPOFUSCINOSIS – A NOVEL C>G MISSENSE MUTATION AT THE CLN8 GENE – THE FIRST CASE OUTSIDE FINLAND OR TURKEY
MP90
Srour, M.; Mazer, B.; Shevell, M.: DIAGNOSING SOTOS SYNDROME IN THE SETTING OF GLOBAL DEVELOPMENTAL DELAY AND MACROCEPHALY
MP91
Riordan, G.; Lambson, L.; Owen, P.: PHENOTYPIC VARIABILITY IN NARP (NEUROGENIC MUSCLE WEAKNESS ATAXIA RETINITIS PIGMENTOSA): CORRELATION WITH LEVELS OF MUTANT MITOCHONDRIAL DNA IN BLOOD
MP92
Tein, I.; Elpeleg, O.; Ben-Zeev, B.; Lerman-Sagie, T.; Gregersen, N.: NOVEL SHORT-CHAIN ACYL-COA DEHYDROGENASE GENE MUTATION (319 C>T) PRESENTS WITH HYPOTONIA, DEVELOPMENTAL DELAY, MULTICORE MYOPATHY AND CLINICAL HETEROGENEITY AND IS CANDIDATE FOUNDER MUTATION IN ASHKENAZI JEWS
MP93
Smulska, N.; Chepiga, L.: TUBEROUS SCLEROSIS IN THE EARLY CHILDHOOD, DIAGNOSTIC CRITERIA, TWO CLINICAL CASES
MP94
Toelle, S. P.; Bartholdi, D.; Riegel, M.; Schinzel, A.; Boltshauser, E.: OHDO SYNDROME IN A BOY WITH TERMINAL DELETION OF 4q AND DUPLICATION OF 10q
MP95
Abdelhalim, N.; El Melegy, E.; Al-Dossary, S.; Abeer, H.; Sarrar, M.; Greally, M.: PEROXISOMAL DISORDERS
MP96
Loizzo, A. L.; Pierre, E.; Bertini, E.; Santorelli, F. M.; Leuzzi, V.; Boespflug-Tanguy, O.; Curatolo, P.: IDENTIFICATION OF THE CRITICAL LOCUS IN A NEW FORM OF LEUCODYSTROPHY WITH PROGRESSIVE ATAXIA, DEAFNESS, AND CARDIOMYOPATHY
MP97
Teleanu, R.; Plesca, D.; Lazar, A.; Moiceanu, M.; Buruiana, F.; Dragomir, D.: SECKEL SYNDROME AND EPILEPSY
MP98
Simonsen, H.; Hougaard, D. M.; Lund, A. M.; Andresen, B. S.; Jensen, U. G.; Skogstrand, K.; Brandt, N. J.; Skovby, F.; Gregersen, N.; Norgaard-Pedersen, B.; Christensen, E.: A DANISH THREE-YEAR PROSPECTIVE TRIAL OF NEWBORN SCREENING FOR INBORN ERRORS OF METABOLISM USING TANDEM MASS SPECTROMETRY
MP99
Vaz, S.; Deshpande, N.; Chodirker, B.; Prasad, C.; Chudley, A.; Prasad, A.: PHENOTYPIC VARIABILITY IN CRANIOFACIAL AND ORGAN SYSTEM DEVELOPMENT IN HOLOPROSENCEPHALY