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  • Atypical forms  (1)
  • Childhood  (1)
  • Drug induced movement disorder  (1)
  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Neurological sciences 17 (1996), S. 157-159 
    ISSN: 1590-3478
    Keywords: Transient paroxysmal dystonia ; Cisapride ; Drug induced movement disorder ; Infancy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: 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.
    Notes: 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.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1590-3478
    Keywords: Huntington's disease ; Tourettism ; Childhood
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Sommario La corea degenerativa di Huntington è una malattia prevalentemente dell'adulto, raramente con esordio nell'età infantile ove si può presentare con variabilità di espressioni cliniche. Descriviamo il caso clinico di un bambino con corea di Huntington, affetto da un disordine progressivo del movimento inquadrabile in un tourettismo acquisito. La presentazione atipica, mai descritta prima d'ora in età infantile, l'assenza di familiarità e la non contributività della risonanza magnetica (RM) nella fase di stato della malattia, fecero sì the questa fosse sospettata solo tardivamente e confermata poi dall'analisi genetica. La presente segnalazione intende sottolineare la necessità che la malattia di Huntington venga considerata nella diagnostica diferenziale dei disordini progressivi non primari del movimento ad esordio infantile.
    Notes: Abstract Infantile Huntington's disease (HD) shows a wide clinical heterogeneity. Here we describe the case of a child affected by HD who showed unusual neurological features consistent with tourettism. The absence of family history and persisting normal magnetic resonance imaging (MRI) results long after the onset of symptoms delayed the diagnosis of the disease. An MRI exam performed 26 months after disease onset disclosed bilateral atrophy in the putamen, suggesting HD. The diagnosis was confirmed by genetic analysis. The present report underlines the need to consider HD in childhood cases of unusual and even unfamiliar progressive movement disorders.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    Neurological sciences 21 (2000), S. S57 
    ISSN: 1590-3478
    Keywords: Key words NCL ; Atypical forms
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: 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.
    Type of Medium: Electronic Resource
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