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  • 1
    ISSN: 1432-1920
    Keywords: Key words Dystrophy ; infantile neuroaxonal ; Brain ; magnetic resonance imaging
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We report the imaging findings in 11 patients with infantile neuroaxonal dystrophy. Ten patients underwent 15 MRI examinations; one patient had only CT. Of the ten patients who underwent MRI, eight had cerebellar atrophy and mildly increased signal from the cerebellar cortex on T2-weighted images. With T2 weighting there was slightly increased signal from the dentate nuclei in two patients and from the posterior periventricular white matter in three. We saw four patients with a thin optic chiasm. The only two brothers in the series had markedly low signal from the globus pallidus and substantia nigra on 1.5 T T2-weighted images, as seen in Hallervorden-Spatz disease (HSD). Abnormalities of the globus pallidus may be related to a protracted course of the disease. However, an overlap with HSD should be considered.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Journal of neurology 236 (1989), S. 319-321 
    ISSN: 1432-1459
    Keywords: Dystonia ; childhood ; idiopathic
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The natural history of early-onset idiopathic dystonia was studied in 30 patients. Worsening of motor symptoms was observed in the early stages, followed by spontaneous stabilization. Most of the patients retained functional independence. None showed mental deterioration, mood alteration or personality disturbance.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    Journal of neurology 227 (1982), S. 239-247 
    ISSN: 1432-1459
    Keywords: Focal dystonia ; Segmental dystonia ; Generalized dystonia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Fünfzehn von idiopathischer — und zwar 7 von generalisierter und 8 von fokaler und segmentarischer — Dystonie befallenen Patienten unterzogen sich verschiedenen pharmakologischen Behandlungen mit kleinen Mengen Bromocriptine, Pymozide und Triesifenidile. Die Symptome wurden durch eine fortlaufende Punktzahl bezeichnet, so daß deren Schätzung von der Intensität des Symptoms „Dystonie“ in jedem einzelnen befallenen Körperteil abhing. Die Dystonien wurden durch Bromocriptine nicht bedeutend geändert. Pymozide führte zu einer geringeren, doch unbedeutenden, Besserung der dystonischen Symptome. Triesifenidile wirkte auf die generalisierten Dystonien, in Übereinstimmung mit einigen Literaturangaben. Die Veränderlichkeit der pharmakologischen Ergebnisse wurde auf die Verschiedenheit der dystonischen Syndrome zurückgeführt, unter denen man Fälle versammelt, die sich durch Anfangsalter, Sitz der dystonischen Symptome und Entwicklungsart voneinander unterscheiden.
    Notes: Summary A total of 15 patients affected by idiopathic dystonia (7 with generalized and 8 with focal or segmental dystonia) were subjected to therapy with bromocriptine at low doses, pimozide and trihexyphenidyl. The symptoms were evaluated by giving a progressive score in relation to the intensity of the dystonic symptom to each of the body segments involved by the dystonia. Bromocriptine did not significantly modify the dystonia. Pimozide showed a slight nonsignificant improvement of the dystonic symptoms. Trihexyphenidyl was effective in the generalized dystonias, in agreement with previous reports in the literature. The variation in the pharmacological results could be due to the diversity of the dystonic syndromes, which comprise cases that are different in age at onset, site of dystonic symptoms, and evolution.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1432-1459
    Keywords: Hallervorden-Spatz disease ; Progressive dystonia ; Magnetic resonance imaging ; Child neurology
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary The diagnosis of Hallervorden-Spatz disease (HSD) has usually been made post mortem, although the recent description of characteristic abnormalities in the globus pallidus has suggested the possibility of an in vivo diagnosis. We present the clinical histories, neurological features and MRI findings of 11 patients, diagnosed as having HSD. Generalized dystonia with pre dominance of oromandibular involvement, behavioural changes followed by dementia and retinal degeneration were present in all the patients. MRI pallidal abnormalities consisted of decreased signal intensity in T2-weighted images, compatible with iron deposits, and of a small area of hyperintensity in its internal segment (“eye of the tiger” sign). We propose that the combination of these neurological signs with these MRI findings could be considered as highly suggestive of a diagnosis of HSD in living patients.
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    Neurological sciences 16 (1995), S. 315-319 
    ISSN: 1590-3478
    Keywords: paroxysmal dystonia ; paroxysmal tremor ; multiple sclerosis ; childhood ; acetazolamide
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Sommario Viene riportato il caso di un paziente di 16 anni affetto da sclerosi multipla che ha presentato nel corso della risoluzione dei deficit motori conseguenti ad una poussé, dei disturbi parossistici del movimento. Gli episodi erano caratterizzati da distonie parossistiche dell'emisoma di destra, dell durata di 15–30 secondi, pluriquotidiane, regredite completamente dopo somministrazione di acetazolamide. In corso di trattamento, il paziente manifestò un unico episodio caratterizzato da tremore ampio, ritmico e grossolano, coinvolgente particolarmente il capo, presente a riposo e incrementato dal movimento, della durata di circa 3 ore, associato a retrocollo e torcicollo. Il caso descritto segnala che la sclerosi multipla deve essere considerata nell'approccio diagnostico delle distonie parossistiche sintomatiche, e sottolinea l'efficacia di acetazolamide nel trattamento di queste ultime. Descrive inoltre un raro disturbo parossistico del movimento, che in analogia con quanto segnalato in letteratura, può essere definito come un tremore parossistico di tipo distonico, e inquadrato nell'ambito delle distonie parossistiche.
    Notes: Abstract A 16-year-old patient with multiple sclerosis (MS) showed paroxysmal movement disorders during a recurrence of the disease. The paroxysms took the form ot brief unilateral dystonic posturings of the right body suggestive of paroxysmal dystonia (PD); they completely receded with acetazolamide. A single episode of a high amplitude, rythmic slow and coarse generalized tremor, present at rest and increasing with movement, particularly involving the head in a no-no movement, occurred soon after recovery from PD and lasted three hours. The present report provides evidence that MS has to be considered in the diagnostic approach to symptomatic childhood PD and underlines the efficacy of acetazolamide in the treatment of PD attacks. It also describes a rare paroxysmal movement disorder, defined as paroxysmal dystonic tremor, that can be considered as falling within the spectrum of PD.
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    Springer
    Neurological sciences 19 (1998), S. 271-276 
    ISSN: 1590-3478
    Keywords: Neuronal ceroid lipofuscinosis ; Clinical features ; Classification ; Diagnosis ; Genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Sommario Le ceroido lipofuscinosi neuronali (NCL) sono tra le encefalopatie progressive più freguenti nell'infanzia ed interessano, seppure più raramente, l'adulto. Clinicamente sono caratterizzate da demenza, deficit visivo, epilessia e disturbi motori. Gli aspetti patologici specifici sono rappresentati da degenerazione neuronale ed accumulo lisosomiale di lipopigmento in differenti tipi cellulari. Il difetto biochimico della malattia non e noto. La classificazione delle NCL, basata su criteri clinici, distingue sei forme classiche ed altre forme atipiche. L'elettrofisiologia e la neuroradiologia sono di importante ausilio diagnostico, ma la diagnosi si fonda sull'identificazione dell'accumulo di lipopigmento the presenta pattern ultrastrutturali specifici. Differenti difetti genetici sono stati dimostrati in diverse forme cliniche, ma il meccanismo patogenetico molecolare rimane ancora da chiarire.
    Notes: Abstract Neuronal ceroid lipofuscinoses (NCLs) are among the most common neurodegenerative diseases in childhood but rarely present in adulthood. The main symptoms are psychomotor deterioration, visual failure, epilepsy and motor disturbances. The NCLs are morphologically characterized by the accumulation of lipopigments within numerous cell types and loss of neurons. Pathogenesis is unknown. The current clinical classification recognizes six classic types of NCL and several atypical forms. Electrophysiological and neuroradiological findings may be of diagnostic significance, but disease recognition rests on the demonstration of a typical ultrastructural pattern. Genetic studies have demonstrated that several different genetic loci are involved in the pathogenesis of NCL, but the molecular mechanisms underlying neuronal death and lipopigment accumulation are not understood.
    Type of Medium: Electronic Resource
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  • 7
    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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  • 8
    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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  • 9
    Electronic Resource
    Electronic Resource
    Springer
    Neurological sciences 2 (1981), S. 135-137 
    ISSN: 1590-3478
    Keywords: Extrapyramidal disease ; globus pallidus ; CT scan
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Sommario Viene presentato il caso di una paziente di 15 anni con una sintomatologia extrapiramidale evolutiva. Viene proposta la significatività di una correlazione tra quadro clinico e reperto T.A.C. di atrofia bilaterale del pallido.
    Notes: Abstract A case of a 15-year-old patient with a progressive extrapyramidal disease is presented. A brain CT shows bilateral atrophy of globus pallidus. Different diagnostic hypothesis are discussed.
    Type of Medium: Electronic Resource
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  • 10
    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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