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

Area of Science:

• Neuroscience
• Genetics
• Ophthalmology

Background:

• Recurrent neurological dysfunction and white matter lesions in young adults often suggest multiple sclerosis (MS).
• Atypical symptoms such as occlusive retinopathy and hearing loss, alongside absent cerebrospinal fluid (CSF) oligoclonal bands, warrant consideration of alternative diagnoses.
• Misdiagnosis can lead to prolonged, incorrect treatment and delayed definitive care.

Observation:

• A male patient presented with a 20-year history of neurological symptoms, including visual disturbances and hearing loss.
• He exhibited an accumulating burden of brain lesions consistent with demyelinating disease.
• The patient was clinically diagnosed and treated for multiple sclerosis (MS) for nearly two decades.

Findings:

• Despite the prolonged MS diagnosis, specific clinical features were inconsistent with typical MS.
• Genetic testing was performed to investigate the underlying cause of the patient's persistent neurological symptoms.
• Genetic analysis revealed a unifying diagnosis, explaining the constellation of symptoms and lesions.

Implications:

• This case underscores the importance of comprehensive diagnostic evaluation, including genetic testing, in cases with atypical presentations of neurological disorders.
• Recognizing and diagnosing rare genetic mimics of MS is crucial for appropriate patient management and treatment.
• Accurate diagnosis prevents prolonged exposure to ineffective therapies and allows for targeted interventions, improving patient outcomes.