12/11/2023
A female in her 30s presents with hearing loss AU and paresthesias in her early 20s as well as recent blurring in central vision OU found to have temporal optic nerve pallor OU and diffuse areflexia.
MRI brain orbits w/wo Within Normal Limits
Nerve Conduction Studies showed abnormal sensory neuropathy of Bilateral Lower extremities .
blood work B12, folate, TSH/T4, ACE, Cu, Zn, ANA, RF, Bartonella, Lyme, quantiferon, RPR, HIV ab Within Normal Limits
Visually Evoked Potential showed in the picture demonstarted delayed P100 signal OU indicating optic nerve damage.
Brown-Vialetto-Van Laere (BVVL) syndrome was suspected and genetic testing was positive for riboflavin transporter deficiency
confirming the diagnosis.
Only a hand full of cases have ever been reported!
Recommended Riboflavin 400 mg qd supplementation.
