[An atypical presentation of Infantile Alexander disease lacking macrocephaly].
Boletín Médico del Hospital Infantil de México(2016)
Abstract
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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Key words
Enfermedad neurodegenerativa,Leucodristrofia,Enfermedad de Alexander,Resonancia magnética,Gen GFAP
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