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[Muscle-eye-brain disease. Presentation of one case with genetic study]
I Pascual-Castroviejo1, S I Pascual-Pascual, M Gutiérrez-Molina
1Servicio de Neurología Pediátrica, Hospital Universitario La Paz, Madrid, Spain. IPCASTROVIEJO@terra.es
Introduction:
The objective [corrected] is to present a case of muscle-eye-brain (MEB) disease with genetic study.
Material And Methods:
We studied an affected male from the age of 7 months to 21 years. During this time, clinical, analytical, neurophysiological (EEG, EMG, visual evoked potential [VEP], electroretinogram [ERG]), image (CT, MR), cerebral biopsy and genetic studies were performed.
Results:
Severe visual acuity impairment with optic atrophy from the first months of life, abnormal VEP and ERG, CT and MR showing <
Conclusions:
The patient shows typical clinical, neurophysiological, histological and genetic MEB features.
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