Cognitive and neuroradiological improvement in three patients with attenuated MPS I treated by laronidase.
Stem cell transplantation is not appropriate first-line treatment for attenuated phenotypes of mucopolysaccharidosis type I (MPS I). In three patients with attenuated MPSA I treated by laronidase, Patients 2 and 3 displayed significant cognitive improvement within 2years; Patients 1 and 3 displayed improvement on MRI scans of the brain.
Valayannopoulos
V
V
Reference Center for Inherited Metabolic Disorders, Assistance Publique-Hôpitaux de Paris, Necker-Enfants Malades Hospital, University Paris Descartes, Paris, France. vassili.valaya@nck.aphp.fr
Boddaert
N
N
Barbier
V
V
Le Merrer
M
M
Caillaud
C
C
de Lonlay
P
P
D000293:Adolescent; D001921:Brain / Q000187:drug effects* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D003071:Cognition / Q000187:drug effects*; D006801:Humans; D007068:Iduronidase / Q000627:therapeutic use*; D007360:Intelligence / Q000187:drug effects; D008279:Magnetic Resonance Imaging; D008059:Mucopolysaccharidosis I / Q000188:drug therapy*; D012189:Retrospective Studies; D016896:Treatment Outcome
D007068:Iduronidase