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

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

Automated summary

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.