THE CHILD WITH A CEPHALOCELE - ETIOLOGY, NEUROIMAGING, AND OUTCOME

We report a series of 46 children who were treated for one of the dive rse 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 patholog ical factors that influence the patients' outcome. We also investigate d 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 encephalo cele (n=15), cranial meningocele (n=3), atretic cephalocele (n=26), cr anium bifidum occultum (n=1), and exencephaly (n=1), There was an exce ss of the atretic form of cephaloceles in our series, a fact that prob ably reflects geographical variations described for cephaloceles in ge neral. The location of the lesions was occipital in 29 children, parie tal in 16, and temporal and frontobasal in one case each. In seven cas es there was parental consanguinity. A familial history of malformatio ns of the central nervous system was encountered in eight instances. A ssociated systemic abnormalities were present in 23 patients, while ce ntral nervous system anomalies were found in 36 children. Cephalocele repair was undertaken on 35 occasions. There were no surgical fataliti es in the series, The mean follow-up time was of 7 years. Overall mort ality for the whole group was of 17/46 or 36%. Twenty of the 29 surviv ors had no neurological sequelae, but only 13 children exhibited a com petitive intelligence level. A good outcome was found to correlate wel l with: an average head size at birth, a normal initial neurological c ondition, operability of the lesions, and an absence of disorders of t he neuronal migration, Neurological outcome depended also on the occur rence or not of hydrocephalus, while the intelligence level was mainly related to the absence of cerebral tissue within the sac of the malfo rmation.