Nasofrontal encephalocele in a child, associated with a nasal dermal sinus in his mother: familial cranial malformations. Illustrative case

Abstract

BACKGROUND Dermal sinuses and encephaloceles are uncommon central nervous system malformations. The occurrence of these malformations in different members of a family is very rare. OBSERVATIONS This report documents the unique case of a 10-month-old boy with a frontonasal encephalocele, born to a mother with a nasal dermal sinus. These two specific neural tube defects have not been previously reported as occurring between parent and child. LESSONS This case demonstrates potential heritable links in central nervous system malformations through the occurrence of a frontonasal encephalocele in a child born to a mother with a dermal sinus. The connection between these two malformations in a heritable manner suggests a potential need for further research into the genetic pathogenesis of such defects to predict them more accurately within families. https://thejns.org/doi/10.3171/CASE23727