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Familial occurrence of atretic cephaloceles
J F Martínez-Lage1, A Martínez Robledo, M Poza
1Unit of Pediatric Neurosurgery, Virgen de la Arrixaca University Hospital, Murcia, Spain.
Insights
This study details a rare familial occurrence of atretic cephaloceles in three siblings, presenting unique posterior fossa malformations without a known syndrome. This finding is significant for understanding rare genetic conditions.
Area of Science:
- Neurology
- Medical Genetics
- Developmental Biology
Background:
- Familial occurrence of cephaloceles, particularly atretic types, is exceptionally rare without associated syndromes.
- Posterior fossa cystic malformations can present with diverse neurological conditions.
- The Dandy-Walker complex is a spectrum of congenital brain malformations.
Abstract:
In this article we report the cases of an 11-year-old girl who presented with an occipital atretic cephalocele and 2 of her siblings who had similar occipital lesions. Neuroimaging studies in these three instances showed a spectrum of posterior fossa cystic malformations. The girl's parents and a further sibling were also investigated by neuroimaging studies that proved to be normal. The familial occurrence of cephaloceles in general, and of atretic cephaloceles in particular, seems to be very rare in the absence of a known syndrome. Current literature on the familial presentation of cephaloceles and of Dandy-Walker complex is briefly reviewed. To the best of our knowledge this is the first description of the familial presentation of atretic cephaloceles not associated with a recognized syndrome.