However, the unique presentation, characterized by prolonged survival and the slow, mild progression of symptoms, possibly linked to a single heterozygous SLC52A3 variant, does not fully align with the classic autosomal recessive inheritance pattern or the rapid deterioration typically observed in BVVLS cases. This raises the possibility of an atypical form of the disease, for which the authors aim to raise awareness, while emphasizing the need for further research into the genetic transmission patterns and epigenetics of this still poorly understood condition. The gene discussed is SLC52A3; the disease is riboflavin transporter deficiency.