期刊
JOURNAL OF STROKE & CEREBROVASCULAR DISEASES
卷 30, 期 4, 页码 -出版社
ELSEVIER
DOI: 10.1016/j.jstrokecerebrovasdis.2021.105618
关键词
Multiple sclerosis; Sickle cell disease; HbSC disease; Whole exome sequencing; Hemoglobinopathy; Brain-eye-ear disease
A young adult presenting with recurrent episodes of neurological dysfunction and white matter lesions may raise suspicion for multiple sclerosis (MS), but atypical features such as occlusive retinopathy, hearing loss, and absence of CSF oligoclonal bands should prompt the clinician to consider alternative diagnoses. In this case, a man with accumulating brain lesions and genetic testing revealing deficiencies in a gene associated with leukodystrophy was initially misdiagnosed with MS.
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 testrevealed a
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