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.

Dermoid tumours in children usually occur in two locations: at the anterior fontanelle and on the occipital squama. An exceptional site of origin for a posterior fossa dermoid cyst is the extradural space. There are only six previous cases of this situation reported in the literature. A series of 103 subscalp and calvarial masses in children were reviewed and three children are reported with extradural dermoids of the posterior fossa, which communicated with the skin through midline occipital dermal sinuses. All three children were seen after the rapid growth or the formation of an abscess in a previously noted occipital subcutaneous mass present since birth. Although computed tomography or magnetic resonance imaging showed the dermal sinus and the intracranial tumour, these studies were unable to ascertain the intradural or extradural nature of the tumours, their exact origin only being established at operation.Histopathological study showed preclinical signs of infection in the two patients that had not yet formed an abscess. It is suggested that early neurosurgical treatment of these neoplasms should be done to prevent the development of severe intracranial infection. The previously reported simplicity of surgical removal of occipital extradural dermoids was not confirmed in this series.

Two siblings presented with macrocephaly, psychomotor delay, and progressive dystonia. The initial diagnosis was of hydrocephalus and bilateral temporal cerebrospinal fluid collections. Following ventriculoperitoneal shunting, the patients showed only modest neurological improvement. Metabolic investigations performed later in the course of the disease disclosed increased levels of glutaric acid in the urine and decreased levels of serum carnitine, which were confirmatory of glutaric aciduria type 1. The association of macrocephaly, dystonia, and bilateral temporal arachnoid cysts, shown either by computed tomography or magnetic resonance imaging, seems to be diagnostic of glutaric aciduria type 1. The authors report these two cases as they think they might be of interest to neurosurgeons.

The authors report a series of three children with symptomatic congenital arachnoid cyst of the lateral ventricles. Presenting symptoms consisted of macrocephally, delay in psychomotor development, and seizures. CT findings were of a well-defined cystic lesion placed in the atrium of the lateral ventricle. One child was treated by direct cyst exposure and cysto-peritoneal shunt. The other two were treated with ventriculo-cysto-peritoneal shunts; in one of these, we used a ventriculoscope both for cyst fenestration and for accurate shunt placement. The origin of intraventricular arachnoid cysts seems to be secondary to the displacement of arachnoid cells by the vascular mesenchyma, through the choroid fissure, during the process of choroid plexus development.

The Walker-Warburg syndrome (WWS) is a lethal complex of the central nervous system and the eyes. At present its cause is unknown, but clinical evidence strongly suggests that it is an autosomal-recessively inherited disorder. We report a series of nine children with WWS. The diagnosis was established by the detection of lissencephaly, hydrocephalus, and cerebellar malformation on computed tomography. All children exhibited profound psychomotor retardation and ocular abnormalities (in their anterior or posterior eye chambers). The existence of an occipital encephalocele in eight cases was the main diagnostic clue to WWS. Six patients were investigated for the presence for congenital muscular dystrophy, which was confirmed in only four of them. There were no patients with a cleft lip or palate. We studied the incidence of WWS in Spain and estimated it at 0.21 cases per 10,000 live-born children. In our series, WWS was prevalent in the Spanish gypsy population. Consanguinity was present in five of seven affected families. In a case of pregnancy with twins, one of the siblings was unaffected. Eight patients were treated with ventriculoperitoneal shunts and seven underwent encephalocele repair. Histological study of the excised encephaloceles demonstrated two different patterns. Interestingly, one of the infants showed coronal craniosynostosis. Finally, we include in the appendix, for completeness, a report of the case of the sibling of a WWS patient with acrania-exencephaly.