Inherited CD59 deficiency, where neurology and genetics intertwine.
Neurosciences (Riyadh)
; 28(2): 130-135, 2023 Apr.
Article
em En
| MEDLINE
| ID: mdl-37045466
ABSTRACT
OBJECTIVES:
To describe the clinical phenotype of eight children diagnosed with CD59 deficiency and their ultimate neurological outcome.METHODS:
The data of our cases were extensively reviewed both clinical and ancillary tests; investigations included neuroimaging, neurophysiological studies, and laboratory tests.RESULTS:
All patients presented during early infancy with Guillain-Barre syndrome later they suffered repeated relapses leading to the diagnosis of chronic axonal neuropathy. Recurrent stroke and acute necrotizing encephalopathy were described, 2 patients in each group. One girl developed acute disseminated encephalomyelitis while one boy developed acute transverse myelitis. Overt hemolytic anemia requiring blood transfusion reported in six patients.CONCLUSION:
Inherited CD59 deficiency is an autosomal recessive disorder which can have devastating neurological consequences. First line immunotherapy including intravenous immunoglobin, corticosteroids, and plasma exchange may have transient beneficial effect. Reports of targeted therapy with eculizumab might be lifesaving. Genetic counseling is crucial.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Guillain-Barré
/
Anemia Hemolítica
Limite:
Humans
Idioma:
En
Revista:
Neurosciences (Riyadh)
Assunto da revista:
NEUROLOGIA
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
Bahrein