Title :

Chediak-higashi syndrome: brain mri and mr spectroscopy manifestations

Author(s) :

Lolli, Valentina [Auteur]
Soto Ares, Gustavo [Auteur]
Pruvo, Jean-Pierre [Auteur]
Troubles cognitifs dégénératifs et vasculaires - U1171
Troubles cognitifs dégénératifs et vasculaires - U 1171 [TCDV]
Troubles cognitifs dégénératifs et vasculaires - U 1171 [TCDV]
Abou Chahla, Wadih [Auteur]
Jissendi-Tchofo, Patrice [Auteur]

Journal title :

Pediatric radiology

Abbreviated title :

Pediatr. Radiol.

Volume number :

45

Pages :

1253-1257

Publication date :

2015-07-01

ISSN :

0301-0449

English keyword(s) :

Oculocutaneous albinism
Magnetic resonance imaging (MRI)
Chediak-Higashi syndrome
MRspectroscopy (MRS)
Child
Hemophagocytic lymphohistiocytosis

HAL domain(s) :

Sciences du Vivant [q-bio]

English abstract : [en]

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 ...
Show more >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.Show less >

Language :

Anglais

Audience :

Internationale

Popular science :

Non

Administrative institution(s) :

CHU Lille
CNRS
Inserm
Université de Lille

Collections :

• Lille Neurosciences & Cognition (LilNCog) - U 1172

Research team(s) :

Troubles cognitifs dégénératifs et vasculaires

Submission date :

2019-11-27T13:02:37Z