The Virgin and Child with the Infant St. John the Baptist by Sandro Botticelli (1445-1510): does the child have Pompe disease?

Purpose: Current literature describes that art can be used to teach observation skills in medical students. In this way, many medical schools have developed formal observational training on works of art to improve their students' visual diagnostic skills. In this context, this description presents unprecedented evidence that Sandro Botticelli (1445-1510) may have represented a rare neuromuscular disorder, known as Pompe disease (accumulation of lysosomal glycogen primarily in the heart, skeletal muscles, and the nervous system) in one of the characters that make up Virgin and Child with the Infant St. John the Baptist (1490-1500).

Methods: Observational study.

Results: The painting reveals that the Infant Jesus has facial features consistent with some of the main clinical manifestations of Pompe disease (poor head control, facial weakness with open mouth posture, tongue protrusion, and eyelid ptosis).

Conclusion: These results may indicate that Botticelli in 1500 may have made the first pictorial representation of Pompe's disease that was only described in the medical literature in 1932. Furthermore, this description demonstrates the importance of the medico-artistic field for the study of any disease during the Renaissance period, which will be essential for the learning process of visual diagnostic.