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Chédiak-Higashi syndrome: brain MRI and MR spectroscopy manifestations
Valentina Lolli1, Gustavo Soto Ares, Jean-Pierre Pruvo
1Neuroradiology Department, Roger Salengro Hospital, CHRU, Lille, France, valentinalolli@hotmail.com.
Abstract:
Chédiak-Higashi syndrome is a rare inherited metabolic disorder characterized by partial oculocutaneous albinism, immunodeficiency, and neurological dysfunction. We present the brain magnetic resonance imaging (MRI) and MR spectroscopy (MRS) findings obtained during the accelerated phase of the disorder in an 8-year-old. The brain MRI manifestations at recurrences 15 months and 24 months later are reported as well.
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