Elejalde Syndrome is a rare autosomal recessive disorder. The characteristic features are silvery hair and profound central nervous system dysfunction. Unevenly distributed melanin granules are observed on hair analysis. We hereby describe, a two and half year old female child with neuroregression, diffuse hypopigmentation and silvery hair who was diagnosed to have this syndrome.
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[v1] 2017-08-23 06:43:07
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