Abstract
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.
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The author confirms that this report or any of its contents have not been previously published or presented, and that it is not currently under consideration by any other journal. The author also declares that there is no conflict of interest concerning this report or any of its findings, nor are there any financial disclosures required. Patient consent was not required for this description as there are no patient identifiable details or protected health information included within this manuscript.
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de Campos, D. The Virgin and Child with the Infant St. John the Baptist by Sandro Botticelli (1445–1510): does the child have Pompe disease?. Childs Nerv Syst 38, 1267–1269 (2022). https://doi.org/10.1007/s00381-022-05537-0
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DOI: https://doi.org/10.1007/s00381-022-05537-0