[An atypical presentation of Infantile Alexander disease lacking macrocephaly].

Boletín Médico del Hospital Infantil de México(2016)

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摘要
The radiographic signs observed in the resonance were decisive for the diagnosis, later confirmed by molecular study. It is important to consider that certain mutations are not associated with macrocephaly, which may cause delay in diagnosis.
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关键词
Enfermedad neurodegenerativa,Leucodristrofia,Enfermedad de Alexander,Resonancia magnética,Gen GFAP
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