Journal of child neurology · 2000
Hallervorden-Spatz disease: two new early childhood onset cases.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Peña J A, Molina O, Cardozo J
Аннотация
Hallervorden-Spatz disease is a rare, autosomal-recessive hereditary condition characterized by early onset of progressive movement alterations such as dystonia, rigidity, and choreoathetosis, which is usually associated with pyramidal signs and mental deterioration. The authors report two cases for which diagnosis of Hallervorden-Spatz disease was based on clinical manifestations that appeared during the first year of life, illness progression, and late-stage magnetic resonance imaging findings. The possibility that these two cases, along with other previously described rare instances with similar clinical features, be considered as a variant of subtype of the early-onset type of Hallervorden-Spatz disease is suggested. The need to differentiate these cases from cases of static encephalopathy with mental retardation and motor impairment is also stressed.