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

Autor:	Yabir Ali M; Department of Neurosurgery, Hackensack University Medical Center, Prospect, New Jersey., Habibi Z; Department of Neurosurgery, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran., Nejat F; Department of Neurosurgery, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran., El Khashab M; Department of Neurosurgery, Hackensack University Medical Center, Prospect, New Jersey.
Jazyk:	angličtina
Zdroj:	Journal of neurosurgery. Case lessons [J Neurosurg Case Lessons] 2024 Jul 22; Vol. 8 (4). Date of Electronic Publication: 2024 Jul 22 (Print Publication: 2024).
DOI:	10.3171/CASE23727
Abstrakt:	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.
Databáze:	MEDLINE
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