Familial occurrence of atretic cephaloceles.
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.
Martínez-Lage
J F
JF
Unit of Pediatric Neurosurgery, Virgen de la Arrixaca University Hospital, Murcia, Spain.
Martínez Robledo
A
A
Poza
M
M
Sola
J
J
D000293:Adolescent; D002531:Cerebellum / Q000002:abnormalities / Q000473:pathology; D002648:Child; D003388:Cranial Fossa, Posterior / Q000002:abnormalities* / Q000473:pathology / Q000601:surgery; D003616:Dandy-Walker Syndrome / Q000175:diagnosis / Q000235:genetics / Q000473:pathology / Q000601:surgery; D003937:Diagnosis, Differential; D004677:Encephalocele / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008588:Meningocele / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D009777:Occipital Bone / Q000002:abnormalities* / Q000473:pathology / Q000601:surgery; D010375:Pedigree; D014057:Tomography, X-Ray Computed