Title :

Impact of miglustat on evolution of atypical presentation of late-infantile-onset Niemann-Pick disease type C with early cognitive impairment, behavioral dysfunction, epilepsy, ophthalmoplegia, and cerebellar involvement: a case report.

Author(s) :

Cuisset, Jean-Marie [Auteur]
Sukno, S [Auteur]
Trauffler, A [Auteur]
Latour, P [Auteur]
Dobbelaere, Dries [Auteur]
Maladies RAres du DÉveloppement embryonnaire et du Métabolisme : du phénotype au génotype et à la Fonction (RADEME) - EA 7364
Michaud, Laurent [Auteur]
Lille Inflammation Research International Center (LIRIC) - U995
Vallee, Louis [Auteur]

Journal title :

Journal of medical case reports

Abbreviated title :

J Med Case Rep

Volume number :

10

Pages :

241

Publication date :

2016-09-06

ISSN :

1752-1947
1752-1947

Keyword(s) :

Mesh:Magnetic Resonance Imaging*
Mesh:Epilepsy/physiopathology
Mesh:Epilepsy/drug therapy*
Mesh:Cognition Disorders/drug therapy*
Mesh:Cognition Disorders/physiopathology
Mesh:Niemann-Pick Disease
Mesh:Type C/physiopathology
Mesh:Enzyme Inhibitors/therapeutic use*
Mesh:Niemann-Pick Disease
Mesh:Type C/drug therapy*
Mesh:Adolescent
Mesh:Treatment Outcome
Mesh:Epilepsy/genetics
Mesh:Mental Disorders/drug therapy*
Mesh:Cognition Disorders/genetics
Mesh:1-Deoxynojirimycin/therapeutic use
Mesh:Ophthalmoplegia/drug therapy*
Mesh:Niemann-Pick Disease
Mesh:Type C/genetics
Mesh:Carrier Proteins
Mesh:Mutation/genetics
Mesh:1-Deoxynojirimycin/analogs & derivatives*
Mesh:Humans
Mesh:Male
Mesh:Membrane Glycoproteins
Mesh:Mental Disorders/genetics
Mesh:Mental Disorders/physiopathology
Mesh:Ophthalmoplegia/genetics
Mesh:Cerebellum/pathology
Mesh:Ophthalmoplegia/physiopathology
Mesh:Cerebellum/diagnostic imaging*

HAL domain(s) :

Sciences du Vivant [q-bio]

Language :

Anglais

Audience :

Internationale

Popular science :

Non

Administrative institution(s) :

Inserm
Université de Lille
CHU Lille

Collections :

• Lille Inflammation Research International Center (LIRIC) - U995

Research team(s) :

Nutritional modulation of inflammation and infection

Submission date :

2019-03-01T14:25:49Z