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Presents a letter to the editor in response to the article "Synringomyelia with Chiari malformation," published in the 2004 issue.

Presents a letter to the editor in response to the article "Disconnective Hemispherectomy," by M. Danielpour, C. S. von Koch, S. G. Ojemann and W. J. Peacock, published in a 2001 issue of "Pediatric Neurosurgery."

The possibility to remove a previously inserted CSF shunt device in hydrocephalic children is a well known though rare event for paediatric neurosurgeons. A retrospective analysis of our experience with a series of 850 children affected by non tumoral hydrocephalus shows that obvious shunt independence could be demonstrated in 3.2% of the patients (27 cases). The time interval between the CSF shunt insertion and removal ranged between 8 months and 12 years (mean: 8 years).Parameters analysed to search for any predictive elements were age at surgery, aetiology, type of prosthesis utilised, time interval between insertion and removal of the shunt, number of the possible revisions. The results of the study suggest that the highest incidence of shunt independence is reached in subjects operated on in early infancy, as 24 of 27 removed shunts were in patients operated on under 6 months of age, and the remaining in 2 children treated when less than 2 years old. Such a finding could be explained on the grounds of a delay in maturation of the CSF absorption mechanisms followed by a late normalisation in these patients.As regards to aetiology, 41% of the 27 patients considered in this series were affected by a post-haemorrhagic hydrocephalus, which was progressive, as demonstrated by serial neuroradiological examinations and echo-Doppler cerebral studies at the time of the surgical treatment. In six children the hydrocephalus was associated with myelomeningocele. Five patients had aqueduct stenosis and 2 communicating hydrocephalus.The types of CSF shunting system we utilised did not play any role in determining or facilitating shunt independence. No correlation was observed with the need and the number of shunt revisions. The role of the interval time between the insertion and the removal of the shunt was not analysable, because of the possible acquisition of the shunt independence prior to its demonstration at the moment of the surgical revision of the CSF shunt (elective lengthening because of the physiological body growth) or to the radiological demonstration of CSF shunt device disconnection. The same constraint prevents the evaluation of the actual overall incidence of shunt independence in shunted hydrocephalic children, as some of them could have harboured a non-functioning CSF shunt device, though unnoticed. [ABSTRACT FROM AUTHOR]

Background and purpose Epileptic seizures account for 24-40% of all clinical onsets in patients with brain arteriovenous malformations ( AVMs). Methods We retrospectively reviewed the angioarchitectural features of AVMs associated with seizures in 168 patients admitted to our Department from 1997 to 2012. Patients were dichotomized according to demographic characteristics, type of treatment, bleeding occurrence, and morphological and topographic features. Clinical status at admission and discharge was also recorded. The association of each one of these variables with seizures occurrence was statistically tested. Continuous variables and outcome were compared with Student's t-test, whereas categorical ones were compared using Fisher's exact test. The independent contribution of some seizures predictors was assessed with a logistic regression model. Associations were considered significant for P < 0.05. Results About 29% patients showed seizures and 47% bleeding. No significant difference in age and sex was observed between patients with and without seizures. AVMs > 4 cm ( P = 0.001) and those fed by dilated arterial feeders ( P = 0.02) were associated with increased risk of seizures. A higher risk of seizures occurrence was also observed in cortical AVMs compared with deeper ones (75.5% vs. 55.4%; P = 0.01), and in AVMs fed by middle and posterior cerebral arteries branches compared with the other vessels (81.6% vs. 45.3%; P < 0.001 and 48.9% vs. 23.5%; P = 0.002, respectively). No lobar predisposition was observed. A nidus > 4 cm also appeared as an independent risk factor of seizures occurrence ( OR 2.82; 95% CI, 1.26-6.31; P = 0.009) at logistic regression analysis. Conclusions AVM morphology, especially nidus dimension, appeared to more significantly influence seizures occurrence than their topography. [ABSTRACT FROM AUTHOR]

Grade IV astrocytoma or glioblastoma multiforme (GBM) is one of the most aggressive and lethal tumors affecting humans. ADAR2-mediated A-to-I RNA editing, an essential post-transcriptional modification event in brain, is impaired in GBMs and astrocytoma cell lines. However, the role of ADAR2 editing in astrocytomas remains to be defined. Here, we show that ADAR2 editing rescue in astrocytomas prevents tumor growth in vivo and modulates an important cell cycle pathway involving the Skp2/p21/p27 proteins, often altered in glioblastoma. We demonstrate that ADAR2 deaminase activity is essential to inhibit tumor growth. Indeed, we identify the phosphatase CDC14B, which acts upstream of the Skp2/p21/p27 pathway, as a novel and critical ADAR2 target gene involved in glioblastoma growth. Specifically, ADAR2-mediated editing on CDC14B pre-mRNA increases its expression with a consequent reduction of the Skp2 target protein, as shown both in vitro and in vivo. We found that, compared to normal brain, both CDC14B editing and expression are progressively impaired in astrocytomas from grade I to IV, being very low in GBMs. These findings (1) demonstrate that post-transcriptional A-to-I RNA editing might be crucial for glioblastoma pathogenesis, (2) identify ADAR2-editing enzyme as a novel candidate tumor suppressor gene and (3) provide proof of principle that ADAR2 or its substrates may represent a suitable target(s) for possible novel, more effective and less toxic approaches to the treatment of GBMs. [ABSTRACT FROM AUTHOR]

Summary: Purpose: To try to prove in patients with refractory symptomatic epilepsy due to early brain injury involving thalamus and complicated by CSWS the effects of the isolation of the injured hemisphere, performed with functional hemisperectomy, on epilepsy, namely on CSWS. Methods: Full clinical follow-up before and after surgery of two cases with CSWS onset at four years in whom functional hemispherecomy was performed with resection of inter-hemispheric connections. Results: An immediate effectiveness of the surgical treatment was observed on both epileptic evolution (no more seizures) and EEG abnormalities. In particular, CSWS completely disappeared, together with a concurrent progressive improving of the cognitive and behavioural disorders. Discussion: The isolation of the injured hemisphere through the section of inter-hemispheric cortico-cortical connections could prevent the contralateral diffusion of discharges coming from the injured cortex and cortico-thalamic network, favouring a normal function of thalamo-cortico-thalamic circuitries in the healthy hemisphere. That could explain the disappearance of CSWS after surgery in our patients and the consequent improvement of cognitive abilities and behaviour. [Copyright &y& Elsevier]

The actual definition of survival rates following treatment for intracranial ependymomas is substantially influenced by the strict interaction among different factors. Age, location, and grading, for example, act together, negatively influencing the prognosis of younger children also invariably influenced by the more demanding role of surgery and the still limited use, up to recently, of radiotherapy under 3 years of age. In the same direction, the worse prognosis in most series of infratentorial ependymomas if compared with their supratentorial counterpart should be cautiously considered, midline posterior fossa tumors having completely different implications from those originating or predominantly extending to the cerebellopontine angle, where the extent of surgery has more invariably to compare with patients’ quality of life. New radiotherapic regimens and their applications in infancy are promisingly demonstrating an improvement of present prognostic criteria, with the limit of still insufficient information on their long-term secondary effects. Similarly, molecular biology research studies, though still in their preclinical stage, are prompting to change the concept of a substantially chemoresistant tumor helping to stratify these lesions with the final aim of targeted pharmacological therapies. In the present review paper, we investigated singularly the role that the more commonly considered prognostic factors have had in the literature on survival of children affected by intracranial ependymomas, trying to elucidate their cumulative effect on the actual knowledge of this issue. [ABSTRACT FROM AUTHOR]

Ten to 40% of children operated on for a posterior fossa tumour require a further surgical procedure for the management of a persisting active ventricular dilation. The management of this kind of hydrocephalus is still controversial. To prospectively evaluate the effectiveness of post-operative endoscopic third ventriculostomy (ETV) in the management of persistent active hydrocephalus in a series of children operated on for a posterior cranial fossa tumour. The management protocol consisted of: (1) placement of a peri-operative antibiotic impregnated external ventricular catheter (Bactiseal®) and tumour removal, (2) post-operative intracranial pressure (ICP) monitoring through the external ventricular drainage, (3) ETV in case of persistent ventricular dilation and persistently abnormal high ICP values and (4) ventriculoperitoneal shunt implantation in case of ETV failure. Thirty on a total of 104 children (28.8%) operated on between January 2001 and February 2007 at our institution needed a further surgical treatment for the persistence of the hydrocephalus after the removal of their posterior cranial fossa tumour. They were sub-divided in two groups according to the early (group 1—21 patients) or later (group 2—nine patients) definition of the persistence of an active ventricular dilation based on clinical, radiological and ICP monitoring data. ETV was successful in 90.0% of the patients in the present series (27/30 patients), without statistically significant differences among the two groups considered. Post-operative ETV should be considered the best option to treat persistent hydrocephalus after the removal of posterior fossa tumours. [ABSTRACT FROM AUTHOR]

Objective: to investigate visual function pre- and post surgery in children with single-suture non-syndromic craniosynostosis Design: Twenty-nine infants (12 with sagittal synostosis, 10 with trigonocephaly and 7 with anterior plagiocephaly) were longitudinally evaluated using a battery of tests assessing various aspects of visual function, including ocular behaviour, acuity, visual fields and fixation shift. All infants were assessed before surgery and 2, 6 and 12 months after surgery. Results: Before surgery only 16% of infants had completely normal visual function, while on the assessment performed 12 months after surgery, the number with normal results on all the tests increased to 65%. The only abnormalities found 12 months after surgical correction were mainly found on abnormal oculomotor behaviour in infants with plagiocephaly. Conclusion: Abnormalities of visual function were not frequent in infants with non-syndromic craniosynostosis who underwent surgical correction. Approximately half of the patients had some visual abnormalities before surgery, which subsequently improved, showing a delayed visual maturation rather than persistent abnormalities. [ABSTRACT FROM AUTHOR]

The aim of the study was to analyse the semiology of seizures in children with frontal lobe epilepsy (FLE) and to compare them with other paediatric cohorts described in the literature as well as with adult counterparts. We analysed 174 registered seizures of 18 cases under 12 years with lesional epilepsy whose frontal origin was defined by the concordance of neuroimaging and ictal electrographic findings, and confirmed by surgery in the six cases operated on. Seizures were generally short, with a high daily frequency and usually related to sleep. The most characteristic semiological pattern consisted of complex motor seizures, particularly hypermotor. Often seizures corresponded to a mixture of different semiological patterns (tonic, gelastic, automotor, hypermotor, versive) presenting in the same seizure, often as a unique type in the same patient. With regard to several aspects the semiology of FLE in our cohort looks like that reported in adult series, in particular as to the frequency of complex motor seizures. However, our cohort was also characterised by a more protean array of seizure semiology, stressing the occurrence of seizures typically present in adults (versive and complex motor) and of some seizure patterns more characteristic in children such as epileptic spasms; moreover, the rare occurrence of secondarily generalised tonic clonic seizures (SGTCS) was confirmed. [ABSTRACT FROM AUTHOR]

Objective: The aim of this study was to evaluate the presence and the severity of neurological and cognitive impairment at 2 years of age in 16 infants (9 term born, 7 preterm of mean gestation 33.6 weeks) with cerebral ventriculomegaly of antenatal onset associated with intraventricular haemorrhage. Methods: Ventricular dilatation, with or without associated lesions, was, with one exception, not identified on the antenatal routine scan at approximately 22 weeks but was obvious on the scans performed between weeks 27 and 33. In 8 of the 16 cases there were signs of parenchymal involvement or of abnormalities of the corpus callosum or cerebellum. In all patients the diagnosis of antenatal IVH was confirmed by early neonatal imaging. Outcome was measured using the Hammersmith infant neurological examination and the Griffiths developmental scales at 2 years. Results and Conclusions: At 2 years, 8 infants had normal motor outcome and 8 had cerebral palsy. The presence and severity of cerebral palsy or neurodevelopmental delay was not always related to the magnitude or symmetry of the ventricular dilatation per se. The presence of associated lesions was a negative prognostic marker. The early development of epilepsy was also associated with an abnormal outcome. [ABSTRACT FROM AUTHOR]

Medulloblastoma (MB) results from aberrant development of cerebellar neurons in which altered hedgehog (Hh) signalling plays a major role. We investigated the possible influence of Hh signalling on ErbB-receptor expression in MB, in particular that of the ErbB-4 CYT-1 and CYT-2 isoforms generated by alternative splicing of the cytoplasmic domain. ErbB-4 expression was downregulated in Hh-induced MBs from Patched-1+/− mice. Hh signalling (reflected by enhanced expression of the Gli1 transcription factor) inhibited ErbB-4 expression in mouse cerebellar granule progenitors and human MB cells. Analysis of 26 human primary MBs revealed a subset of 11 tumors characterized by low Gli1 levels, upregulated ErbB-4 expression and increased CYT-1:CYT-2 ratios. Interestingly, CYT-1 and Gli1 levels were inversely correlated. ErbB-4 CYT-1 and CYT-2 had different phenotypic effects in cultured MB cells: in response to neuregulin treatment, CYT-2 overexpression inhibited proliferation whereas CYT-1, which includes a phosphatidylinositol 3-kinase (PI3K)-binding site that is missing in CYT-2, enhanced resistance to starvation- and etoposide-induced apoptosis by activating PI3K/Akt signalling. CYT-1:CYT-2 ratios displayed correlation with tumor histotype and ErbB-2 levels, which are established prognostic indices for MB. These findings demonstrate that low-level Hh signalling in human MB is associated with the selective maintenance of high ErbB-4 CYT-1 expression, an alteration that exerts tumor-promoting effects.Oncogene (2006) 25, 7267–7273. doi:10.1038/sj.onc.1209716; published online 31 July 2006 [ABSTRACT FROM AUTHOR]

Aim To compare the therapeutic effectiveness and tolerability of low daily doses of polyethylene glycol 4000 vs. lactulose in the treatment of neurogenic constipation in children with myelomeningocele. Methods Sixty-seven children with chronic neurogenic constipation were randomized allocated to receive either polyethylene glycol 4000 (0.50 g/kg) or lactulose (1.5 g/kg) for 6 months. Patients or their parents reported frequency and modality of evacuation and side effects on a diary card. Primary outcome was bowel frequency ≥3/week, and the second one was side effects at the end of treatment. Results Complete remission of constipation was reported by a significantly ( P < 0.01) higher number of patients treated with polyethylene glycol compared with lactulose. At the end of the study, 46% patients of polyethylene glycol group and 22% of the lactulose group were asymptomatic. Compared with lactulose, patients treated with polyethylene glycol reported higher bowel frequency (5.1 vs. 2.9 bowel movements/week, P < 0.01) and reduction of encopresis. Neither lactulose nor polyethylene glycol caused clinically-significant serious side effects and palatability was similar. Conclusions Polyethylene glycol 4000 compared with lactulose provided a higher success rate, without significant side effects, for the treatment of constipation in myelomeningocele children. [ABSTRACT FROM AUTHOR]

Craniopagus conjoining represents a complex and challenging issue for neurosurgeons as well as for anesthesiologists. A rare face-to-face case of conjoined twins underwent surgical separation and presented peculiar differences compared with those already reported in the literature. Even in cases lacking large cerebrovascular sinus connections, the impending risk of large blood loss and hemorrhagic shock in the infant requires a high level of surveillance and the institution of invasive monitoring. [ABSTRACT FROM AUTHOR]

The aim of this study was to assess various aspects of visual function in children with single-suture, non-syndromic craniosynostosis. Thirty-eight infants (28 males, 10 females; age range 3.5–13mo, mean age 7mo, 11 with plagiocephaly, 12 with trigonocephaly, and 15 with scaphocephaly), were assessed with a battery of tests specifically designed to assess various aspects of visual function in infancy. Thirty-two of the 38 infants had at least one abnormality on one of the aspects of visual function assessed. Abnormal eye movements were found in eight infants of the whole cohort and were mainly found in infants with plagiocephaly (6/11), who also had frequent visual field abnormalities (5/11). In contrast, fixation shift, an aspect of visual function related to the integrity of parietal lobes, was more frequently abnormal in patients with scaphocephaly. Our results suggest that the presence and severity of visual impairment is related to the type of craniosynostosis. Follow-up studies after surgical correction are needed to evaluate the possible beneficial effects of reconstructive surgery on visual function. [ABSTRACT FROM AUTHOR]

The article presents a case study regarding the microphthalmia and colobomatous cyst of the orbit that was diagnosed in a new born, presented at birth with right exophthalmia. The case is a distinct phenotypic form of colobomatous malformation in which the orbit volume was usually reduced due to microphthalmia. This is a rare case of orbit enlargement when the coloboma is associated with an expansive cyst, which is unusual.

Presents surgical and magnetic resonance images of a case of large cerebral cavernoma mimicking a brain tumor.

An abstract of the conference paper "Changing diagnosis and outcome in spina bifida: Results of 30 years experience of a single third-level center," by L. Masini and colleagues is presented.