Diagnosis and management of large occipitocervical cephaloceles: a 10-year experience.

Background/aims: Cephaloceles are common malformations of the central nervous system. However, the great majority of clinical experiences in large occipitocervical cephaloceles have not been reported previously. The purpose of this report is to investigate the pathogenetic factors involved in the development of cranial dysraphism and to analyze the clinical and pathological factors that influence the outcome in patients.

Methods: Three hundred and twenty infants with craniospinal dysraphism and 12 with large occipitocervical cephaloceles were admitted to our institution in a 10-year interval between 1995 and 2005. Infants with cephaloceles, including newborns and 5 within the first year of life, were all operated by two authors in our institution, and they were analyzed retrospectively.

Results: The sex predilection was limited to occipitocervical cephaloceles, where 8 of the 12 cases were females. Hydrocephalus was present in 25% of the patients at the time of diagnosis. Clinical presentation was most often consistent with hydrocephalus, focal neurological findings being a less prominent feature. Associated congenital anomalies were present in 50% of the children. Contemporary neuroimaging techniques including computed tomography and magnetic resonance imaging facilitated the diagnosis. Patients were initially managed by posterior fossa or cervical region exploration, followed by sac excision. Three cases died in the early postoperative period, and the surgical mortality in this series was 25%. They were the ones with the largest encephaloceles and microcephaly. The mean follow-up time was 3.4 years. The overall mortality rate for the whole series was 33.3% (4/12). The size of the cephaloceles and the presence or absence of neural tissue in the sac largely determines the outcome for patients with occipitocervical cephaloceles.

Conclusion: Infants with lesions greater than 50 mm in diameter, containing a significant amount of neural tissue, have an extremely poor prognosis, especially if associated with microcephaly.