title: Chédiak-Higashi syndrome: brain MRI and MR spectroscopy manifestations.
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.
authors: Neuroradiology Department, Roger Salengro Hospital, CHRU, Lille, France, valentinalolli@hotmail.com.
authors: Valentina
authors: V
authors: Lolli
authors: Gustavo
authors: G
authors: Soto Ares
authors: Jean-Pierre
authors: JP
authors: Pruvo
authors: Wadih
authors: W
authors: Abou Chahla
authors: Patrice
authors: P
authors: Jissendi-Tchofo
mesh_terms: D001921:Brain / Q000473:pathology*; D002609:Chediak-Higashi Syndrome / Q000188:drug therapy / Q000473:pathology*; D002648:Child; D003287:Contrast Media; D016572:Cyclosporine / Q000627:therapeutic use; D003907:Dexamethasone / Q000627:therapeutic use; D038524:Diffusion Magnetic Resonance Imaging; D017352:Echo-Planar Imaging; D005500:Follow-Up Studies; D005682:Gadolinium; D006801:Humans; D007089:Image Enhancement; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D008727:Methotrexate / Q000627:therapeutic use; D012008:Recurrence; D016896:Treatment Outcome
chemical_list: D003287:Contrast Media; D007166:Immunosuppressive Agents; D003907:Dexamethasone; D016572:Cyclosporine; D005682:Gadolinium; D008727:Methotrexate