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

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.