Another ‘BEE’? – Brain-Eye-Ear (BEE) Disease Secondary to HbSC Disease Masquerading as Multiple Sclerosis

Asya Izraelit Wallach; Maria J. Borja; Duan Chen; Rachel Eisenberg; Yasha S. Modi; Cen Zhang; Timothy M. Shepherd; Avindra Nath; Bryan Smith; Jose U. Scher; Catherine Cho; Ilya Kister

doi:10.1016/j.jstrokecerebrovasdis.2021.105618

Another ‘BEE’? – Brain-Eye-Ear (BEE) Disease Secondary to HbSC Disease Masquerading as Multiple Sclerosis

Asya Izraelit Wallach, Maria J. Borja, Duan Chen, Rachel Eisenberg, Yasha S. Modi, Cen Zhang, Timothy M. Shepherd, Avindra Nath, Bryan Smith, Jose U. Scher, Catherine Cho, Ilya Kister

Pediatrics

Research output: Contribution to journal › Article › peer-review

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.

Original language	English (US)
Article number	105618
Journal	Journal of Stroke and Cerebrovascular Diseases
Volume	30
Issue number	4
DOIs	https://doi.org/10.1016/j.jstrokecerebrovasdis.2021.105618
State	Published - Apr 2021

Keywords

Brain-eye-ear disease
HbSC disease
Hemoglobinopathy
Multiple sclerosis
Sickle cell disease
Whole exome sequencing

ASJC Scopus subject areas

Surgery
Rehabilitation
Clinical Neurology
Cardiology and Cardiovascular Medicine

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10.1016/j.jstrokecerebrovasdis.2021.105618

Cite this

Wallach, A. I., Borja, M. J., Chen, D., Eisenberg, R., Modi, Y. S., Zhang, C., Shepherd, T. M., Nath, A., Smith, B., Scher, J. U., Cho, C., & Kister, I. (2021). Another ‘BEE’? – Brain-Eye-Ear (BEE) Disease Secondary to HbSC Disease Masquerading as Multiple Sclerosis. Journal of Stroke and Cerebrovascular Diseases, 30(4), Article 105618. https://doi.org/10.1016/j.jstrokecerebrovasdis.2021.105618

Wallach, AI, Borja, MJ, Chen, D, Eisenberg, R, Modi, YS, Zhang, C, Shepherd, TM, Nath, A, Smith, B, Scher, JU, Cho, C & Kister, I 2021, 'Another ‘BEE’? – Brain-Eye-Ear (BEE) Disease Secondary to HbSC Disease Masquerading as Multiple Sclerosis', Journal of Stroke and Cerebrovascular Diseases, vol. 30, no. 4, 105618. https://doi.org/10.1016/j.jstrokecerebrovasdis.2021.105618

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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.",

keywords = "Brain-eye-ear disease, HbSC disease, Hemoglobinopathy, Multiple sclerosis, Sickle cell disease, Whole exome sequencing",

author = "Wallach, {Asya Izraelit} and Borja, {Maria J.} and Duan Chen and Rachel Eisenberg and Modi, {Yasha S.} and Cen Zhang and Shepherd, {Timothy M.} and Avindra Nath and Bryan Smith and Scher, {Jose U.} and Catherine Cho and Ilya Kister",

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year = "2021",

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doi = "10.1016/j.jstrokecerebrovasdis.2021.105618",

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AU - Wallach, Asya Izraelit

AU - Borja, Maria J.

AU - Chen, Duan

AU - Eisenberg, Rachel

AU - Modi, Yasha S.

AU - Zhang, Cen

AU - Shepherd, Timothy M.

AU - Nath, Avindra

AU - Smith, Bryan

AU - Scher, Jose U.

AU - Cho, Catherine

AU - Kister, Ilya

PY - 2021/4

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AB - 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.

KW - Brain-eye-ear disease

KW - HbSC disease

KW - Hemoglobinopathy

KW - Multiple sclerosis

KW - Sickle cell disease

KW - Whole exome sequencing

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Another ‘BEE’? – Brain-Eye-Ear (BEE) Disease Secondary to HbSC Disease Masquerading as Multiple Sclerosis

Abstract

Keywords

ASJC Scopus subject areas

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