Another 'BEE'? - Brain-Eye-Ear (BEE) Disease Secondary to HbSC Disease Masquerading as Multiple Sclerosis.
Diagnostic Errors
Genetic Predisposition to Disease
Hearing Loss, Unilateral
/ diagnosis
Hemoglobin SC Disease
/ complications
Hemoglobins, Abnormal
/ genetics
Humans
Leukoencephalopathies
/ diagnostic imaging
Magnetic Resonance Imaging
Male
Multiple Sclerosis
/ complications
Phenotype
Predictive Value of Tests
Vision Disorders
/ diagnosis
Exome Sequencing
Young Adult
Brain-eye-ear disease
HbSC disease
Hemoglobinopathy
Multiple sclerosis
Sickle cell disease
Whole exome sequencing
Journal
Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association
ISSN: 1532-8511
Titre abrégé: J Stroke Cerebrovasc Dis
Pays: United States
ID NLM: 9111633
Informations de publication
Date de publication:
Apr 2021
Apr 2021
Historique:
received:
11
11
2020
revised:
06
01
2021
accepted:
09
01
2021
pubmed:
23
1
2021
medline:
24
3
2021
entrez:
22
1
2021
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 33482571
pii: S1052-3057(21)00020-3
doi: 10.1016/j.jstrokecerebrovasdis.2021.105618
pii:
doi:
Substances chimiques
Hemoglobins, Abnormal
0
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
105618Informations de copyright
Copyright © 2021 Elsevier Inc. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of Competing Interest None.