The child with a cephalocele: etiology, neuroimaging, and outcome

Abstract

We report a series of 46 children who were treated for one of the diverse forms of cranium bifidum during a period of 22 years. The purpose of the survey was to investigate pathogenetic factors involved in the development of cranial dysraphism and to analyze clinical and pathological factors that influence the patients' outcome. We also investigated the existence of associated intracranial anomalies, in a systematic way, using modern methods of neuroimaging, and related the findings to the patients' final results. The lesions were classified as encephalocele (n = 15), cranial meningocele (n = 3), atretic cephalocele (n = 26), cranium bifidum occultum (n = 1), and exencephaly (n = 1). There was an excess of the atretic form of cephaloceles in our series, a fact that probably reflects geographical variations described for cephaloceles in general. The location of the lesions was occipital in 29 children, parietal in 16, and temporal and frontobasal in one case each. In seven cases there was parental consanguinity. A familial history of malformations of the central nervous system was encountered in eight instances. Associated systemic abnormalities were present in 23 patients, while central nervous system anomalies were found in 36 children. Cephalocele repair was undertaken on 35 occasions. There were no surgical fatalities in the series. The mean follow-up time was of 7 years. Overall mortality for the whole group was of 17/46 or 36%. Twenty of the 29 survivors had no neurological sequelae, but only 18 children exhibited a competitive intelligence level. A good outcome was found to correlate well with: an average head size at birth, a normal initial neurological condition, operability of the lesions, and an absence of disorders of the neuronal migration. Neurological outcome depended also on the occurrence or not of hydrocephalus, while the intelligence level was mainly related to the absence of cerebral tissue within the sac of the malformation.