1.
Rev Neurol (Paris)
; 173(10): 658-662, 2017 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28629633
RESUMO
Two clinical forms of pantothenate kinase-associated neurodegeneration (PKAN) have been described: typical PKAN and atypical PKAN. Atypical PKAN has later onset and a slower course of disease. This report describes two siblings with the atypical form of PKAN, combining dystonia, irritability and a dysmorphia syndrome. In addition, a review of the literature was carried out for all published cases of atypical PKAN to gather descriptions of its various clinical presentations, age of onset and MRI findings, and to highlight the different treatments used for PKAN patients.
Assuntos
Neurodegeneração Associada a Pantotenato-Quinase/diagnóstico , Irmãos , Adolescente , Criança , Humanos , Imageamento por Ressonância Magnética , Masculino
2.
Rev Neurol (Paris)
; 175(7-8): 483-484, 2019.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31221418