October 22, 2013: Remembering Riboflavin: Fazio-Londe Syndrome
October 22, 2013
Fazio-Londe (FL) and Brown-Vialetto-Van Laere (BVVL) syndromes are extremely rare neurologic disorders considered within the spectrum of childhood motor neuron diseases. Presenting with progressive bulbar palsy (92%), facial weakness (77%), respiratory compromise (64%), and in the case of BVVL, sensorineural deafness (81%), these disorders have historically been associated with universally poor outcomes and death (1). Recent advances have linked many cases to genetic mutations in a family of riboflavin transporters. These patients have been found to have associated low flavin levels or abnormal acylcarnitine profiles and striking clinical improvements have been documented with riboflavin supplementation (2). Further research is ongoing, but awareness of this rare entity is essential given the profound response that has been observed with riboflavin supplementation.
- Bosch AM, Stroek K, Abeling NG, Waterham HR, IJIst L, Wanders RJ. The Brown-Vialette-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives. Orphanet J Rare Dis 2012;7:83.
- Ciccolella M, Catteruccia M, Benedetti S, et al. Brown-Vialetto-Van Laere and Fazio-Londe overlap syndromes: a clinical, biochemical and genetic study. Neuromuscular disorders 2012;22:1075-1082.
Submitted by Roy Strowd, MD, Resident Physician, Wake Forest School of Medicine, Winston Salem, NC.
Dr. Strowd is a member of the Resident and Fellow Section of Neurology.
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