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  • Atypical forms  (1)
  • Drug induced movement disorder  (1)
  • 1
    Digitale Medien
    Digitale Medien
    Springer
    Neurological sciences 17 (1996), S. 157-159 
    ISSN: 1590-3478
    Schlagwort(e): Transient paroxysmal dystonia ; Cisapride ; Drug induced movement disorder ; Infancy
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Beschreibung / Inhaltsverzeichnis: Sommario Presentiamo il caso di una bambina di 5 mesi, trattata sin dalla nascita con cisapride per la prevenzione di reflusso gastroesofageo, in quanto affetta da atresia congenita dell'esofago corretta chirurgicamente in 1° giornata di vita. Dal 3° mese la bambina presentò, con frequenza ingravescente, distonie accessuali non più verificatesi dalla sospensione del trattamento farmacologico. La precocità di comparsa della fenomenologia accessuale, la relazione temporale tra cessazione della stessa e sospensione del farmaco, nonché alcune caratteristiche semeiologiche sottolineate nel lavoro, portano ad attribuire alla cisapride un ruolo causale. I processi di sviluppo all'interno dello striato propri di questa età della vita, che comportano rapidi rimaneggiamenti strutturali e di equilibrio funzionale tra i principali neurotrasmettitori, hanno sicuramente rappresentato una situazione favorente nei confronti di un disturbo extrapiramidale transitorio.
    Notizen: Abstract The case is reported of an infant presenting paroxysmal dystonia during cisapride theraphy. We suggest that this drug, a substituted benzamide, probably interfered with the age-related modification of striatal neurotransmitters, provoking extrapyramidal symptoms. Considering the widespread use of cisapride in early infancy for the treatment of gastrointestinal disorders, attention must be drawn to this possible side effect.
    Materialart: Digitale Medien
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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  • 2
    Digitale Medien
    Digitale Medien
    Springer
    Neurological sciences 21 (2000), S. S57 
    ISSN: 1590-3478
    Schlagwort(e): Key words NCL ; Atypical forms
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract The neuronal ceroid lipofuscinoses (NCL) are progressive neurodegenerative diseases occurring in infancy and adulthood. Atypical forms of these diseases have been described and are particularly represented in the late-infantile and juvenile onset groups. Recent progress in biochemistry and molecular genetics has identified some of these variants as separate disease entities while disclosing the phenotypic variability of some classic forms. We report the result of a retrospective analysis performed on a series of 27 NCL patients, 15 of which were atypical as to clinical and/or pathological findings. Most of such patients, belonging to the late-infantile onset group and displaying homogeneous clinical-pathological features, were suggestive for CLN6. The two atypical juvenile NCL patients had features which resembled the “protracted form” of the disease. Given their relative frequency, strict clinical and pathological criteria are still the most useful tools for identifying and characterizing atypical forms and for defining phenotype-genotype correlations.
    Materialart: Digitale Medien
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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