Chiara Močnik Pegan
Medicinska fakulteta, Univerza v Ljubljani, Ljubljana, Slovenija

Tita Butenko
Klinični oddelek za otroško, mladostniško in razvojno nevrologijo, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

Damjan Osredkar
Klinični oddelek za otroško, mladostniško in razvojno nevrologijo, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija in Medicinska fakulteta, Univerza v Ljubljani, Ljubljana, Slovenija

Eva Vrščaj
Klinični oddelek za otroško, mladostniško in razvojno nevrologijo, Pediatrična klinika, Univerzitetni klinični center Ljubljana, Ljubljana, Slovenija

Abstract

Neural tube defects (NTDs) are anomalies of neurulation during fetal. Such birth defects are rare with a global prevalence approximately 1-5 per 1000 births. While spina bifida and anencephaly are the most common NTDs, the occurance of cephaloceles, as a subgroup of cranial defects, is not far behind. A cephalocele is a congenital herniation of intracranial contents through the cranium. There are various types of a cephalocele, one of which is an atretic cephalocele (AC). ACs differ from other cephaloceles as they consist of dural remnants, fibrous tissue and dysplastic neuronal tissue. While the etiology and embryological basis of ACs are yet to be agreed upon, genetic factors have recently been drawing more attention. We report of a case of an atretic cephalocele.

Key words: atretic cephalocele, parietal cephalocele, neural tube defects