Another 'BEE'? - Brain-Eye-Ear (BEE) Disease Secondary to HbSC Disease Masquerading as Multiple Sclerosis.
J Stroke Cerebrovasc Dis
; 30(4): 105618, 2021 Apr.
Article
em En
| MEDLINE
| ID: mdl-33482571
ABSTRACT
Recurrent episodes of neurological dysfunction and white matter lesions in a young adult raise suspicion for multiple sclerosis (MS). However, occlusive retinopathy, hearing loss and absence of CSF oligoclonal bands are atypical for MS and should make the clinician consider an alternative diagnosis. We describe a man with hearing loss, visual signs and symptoms, and an accumulating burden of brain lesions, who was treated for a clinical diagnosis of MS for nearly two decades. Genetic testing revealed a unifying diagnosis.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Transtornos da Visão
/
Hemoglobinas Anormais
/
Perda Auditiva Unilateral
/
Leucoencefalopatias
/
Sequenciamento do Exoma
/
Doença da Hemoglobina SC
/
Esclerose Múltipla
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Adult
/
Humans
/
Male
Idioma:
En
Revista:
J Stroke Cerebrovasc Dis
Assunto da revista:
ANGIOLOGIA
/
CEREBRO
Ano de publicação:
2021
Tipo de documento:
Article
País de afiliação:
Estados Unidos