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Biomedical subjects

C Di Rocco

Publications and source records attributed to C Di Rocco.

At least 19 recordsLinked to original sources

Midline "brain in brain": an unusual variant of holoprosencephaly with anterior prosomeric cortical dysplasia.

INTRODUCTION: We report three cases of brain malformation presenting with a midline mass of dysplastic cortex that we have termed "brain in brain" malformation. RESULTS: The three cases have holoprosencephalic features, including bilateral hemispheric continuity across the midline, single ventricle, midline facial defect and missing olfactory bulbs. All three cases have a midline conglomerate mass of deeply infolded, cortex-lined fissures with major arterial branches, heterotopia and large amount of white matter. The dysplastic mass of cortex and white matter extended into the third ventricle. The cortex and white matter of the dysplastic lesion was continuous with the cortex and white matter, respectively, of the cerebral hemispheres. CONCLUSION: The midline "brain in brain" malformations have some similarities to subcortical heterotopia and extracerebral glioneuronal heterotopia. However, the continuity with the cerebral hemispheres and extension into the ventricle were not reported in subcortical or glioneuronal heterotopia. The common involvement of the midline cortex and extension into the third ventricle implied an anterior segmental prosencephalic abnormality (prosomeres 5/6). However, its pathogenesis remains to be explained.

Cerebral Cortex↗

Shunts vs endoscopic third ventriculostomy in infants: are there different types and/or rates of complications? A review.

INTRODUCTION: The decision-making process when we compare endoscopic third ventriculostomy (ETV) with shunts as surgical options for the treatment of hydrocephalus in infants is conditioned by the incidence of specific and shared complications of the two surgical procedures. REVIEW: Our literature review shows that the advantages of ETV in terms of complications are almost all related to two factors: (a) the avoidance of a foreign body implantation and (b) the establishment of a 'physiological' cerebrospinal fluid (CSF) circulation. Both these kinds of achievements are particularly important in infants because of the relative high rate of some intraoperative (i.e. abdominal) and late (secondary craniosynostosis, slit-ventricle syndrome) shunt complications in this specific subset of patients. On the other side, the main factor which is claimed against ETV is the relatively high risk of immediate mortality and neurological complications. Clinical manifestations of neurological structure damage seem to be more frequent in infants, probably due to the more relevant effect of parenchymal and vascular damage in this age group; however, both the immediate mortality and neurological damage risk of ETV procedures should be weighted against the long-term mortality and the late neurological damage which is not infrequently described as a consequence of shunt malfunction and proximal shunt revision procedures. Infections are possible in both ETV and extrathecal CSF procedures, especially in infants. However, the incidence of infective complications is significantly lower in case of ETV (1-5% vs 1-20%). Moreover, different from shunting procedures, infections in children with third ventriculostomy have a more benign course, being generally controlled by antibiotic treatment alone.

Cerebrospinal Fluid Shunts↗

Alternative splicing of the ErbB-4 cytoplasmic domain and its regulation by hedgehog signaling identify distinct medulloblastoma subsets.

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.

Alternative Splicing↗

Cognitive assessment in epilepsy surgery of children.

INTRODUCTION: Although the neurocognitive assessment in children as in the adults is an important step before and after surgery, in the literature, the data about pre- and postoperative neurocognitive evaluations in children are very few. OBJECTIVE: The purpose of this paper is to consider some peculiar aspects of the neurocognitive assessment during development, and report literature data about neuropsychological outcome of epileptic children treated with focal resection and hemispherectomy. RESULTS AND DISCUSSION: The second section concerns our personal experience about a cohort of 45 children with refractory epilepsy operated on before 7 years. The results suggest that early surgical treatment is generally effective for seizure control and behavior improvement in children with refractory epilepsy. Concerning cognitive outcome, we found that the neurocognitive level was unchanged in the majority of the patients. CONCLUSION: We underline the importance of multicentric studies with standardized neuropsychological assessments in large series of young children.

Adolescent↗

Sturge-Weber syndrome.

INTRODUCTION: Sturge-Weber syndrome (SWS) is a rare neurocutaneous syndrome the main clinical features of which are facial, mostly unilateral nevi, leptomeningeal angiomatosis, and congenital glaucoma. The interest of this syndrome for pediatric neurosurgeons is mainly related to the association of SWS with epilepsy in 75-90% of the cases. Seizures are resistant to medical treatment in almost 60% of these patients that consequently should be evaluated for epilepsy surgery. INDICATIONS TO SURGICAL TREATMENT: Children with SWS and drug-resistant epilepsy are optimal candidates for disconnective or resective surgical procedures in terms of both seizure control and intellectual outcomes. Controversies, however, still exist between the advantages of early "prophylactic" operation vs later surgical interventions. Though better results in terms of seizures control and psychomotor development were reported in a limited series of children operated on early in life, the insufficient number of subjects who underwent the surgical treatment does not allow definite conclusions yet. NEUROSURGICAL TECHNIQUES: Visually guided lobectomy with complete excision of the angiomatous cortex should be considered as the primary surgical procedure in patients with focal lesions. Hemispherectomy is the treatment of choice in children with extensive hemispheric lesions.

Diagnostic Imaging↗

Hemimegalencephaly: clinical implications and surgical treatment.

INTRODUCTION: Hemimegalencephaly (HME) is a quite rare malformation of the cortical development arising from an abnormal proliferation of anomalous neuronal and glial cells that generally leads to the hypertrophy of the whole affected cerebral hemisphere. The pathogenesis of such a complex malformation is still unknown even though several hypotheses are reported in literature. BACKGROUND: HME can occur alone or associated with neurocutaneous disorders, such as neurofibromatosis, epidermal nevus syndrome, Ito's hypomelanosis, and Klippel-Trenonay-Weber syndrome. The clinical picture is usually dominated by a severe and drug-resistant epilepsy. Other common findings are represented by macrocrania, mean/severe mental retardation, unilateral motor deficit, and hemianopia. The EEG shows different abnormal patterns, mainly characterized by suppression burst and/or hemihypsarrhythmia. Although neuroimaging and histologic investigations often show typical findings (enlarged hemisphere, malformed ventricular system, alteration of the normal gyration), the differential diagnosis with other disorders of the neuronal and glial proliferation may be difficult to obtain. Hemispherectomy/hemispherotomy is the most effective treatment to control seizure, and it also seems to provide good results on the psychomotor development when performed early, as demonstrated by the literature review and by the reported personal series reported here (20 children). The surgical therapy of HME, however, is still burdened by a quite high complication rate and mortality risk.

Brain Diseases↗

Anatomical hemispherectomy.

INTRODUCTION: Anatomical hemispherectomy is frequently employed in the surgical management of pediatric patients with medically refractory epilepsy. MATERIALS AND METHODS: In this chapter, we review the historical evolution of this surgical procedure, outline the indications and the criteria for selecting surgical candidates and describe the important pre-operative evaluation of the surgical candidates. DISCUSSION: We provide a detailed description of our surgical technique, anesthesiological considerations, and post-operative care plan. Ultimately we analyze the most common complications associated with this procedure. CONCLUSION: Anatomical hemispherectomy performed in carefully selected pediatric patients with medically intractable epilepsy can be a safe and efficacious surgical procedure.

Epilepsy↗

Polyethylene glycol 4000 vs. lactulose for the treatment of neurogenic constipation in myelomeningocele children: a randomized-controlled clinical trial.

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 > or =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.

Analysis of Variance↗

Endoscopic third ventriculostomy in the treatment of hydrocephalus in pediatric patients.

Advances in surgical instrumentation and technique have lead to an extensive use of endoscopic third ventriculostomy in the management of pediatric hydrocephalus. The aim of this work was to point out the leading aspects related to this technique. After a review of the history, which is now almost one century last, the analysis of the endoscopic ventricular anatomy is aimed to detail normal findings and possible anatomic variations which might influence the correct conclusion of the procedure. The overview of modern endoscopic instrumentation helps to understand the technical improvements that have contributed to significantly reduce the operative invasiveness. Indications are analysed from a pathogenetic standpoint with the intent to better understand the results reported in the literature. A further part of the paper is dedicated to the neuroradiological and clinical means of outcome evaluation, which are still a matter of debate. Finally a review of transient and permanent surgical complications is performed looking at their occurrence in different hydrocephalus etiologies.

Child↗

Phase II trial of temozolomide in children with recurrent high-grade glioma.

PURPOSE: The objective of the study was to evaluate the efficacy and toxicity of Temozolomide (TMZ) administered for 5 consecutive days in three daily dosing in children with recurrent or refractory high-grade glioma. PATIENTS AND METHODS: Twenty-four patients with a median age of 10.5 years were enrolled onto this open-label, multicenter, phase II study. The patients were previously treated with surgical resection (17 of 24), radiotherapy (19 of 24) and chemotherapy (18 of 24). Therapy was administered orally three times a day for 5 consecutive days at the dose of 200 mg/m(2)/dx5 for chemotherapy naive patients. In patients heavily pretreated with chemotherapy the starting dose was of 150 mg/m(2)/dx5. RESULTS: A total of 95 cycles were administered. The median progression free-survival (PFS) was 3 months for the entire group while disease stabilization was obtained in 7 patients (29.1%), all with supratentorial tumors. No CR or PR was observed. TMZ treatment showed a limited toxicity. Thrombocytopenia was the most common hematological adverse effect. Our data suggest a marginal activity of TMZ in children with recurrent high-grade glioma.

Adolescent↗

Long-term results of the surgical treatment of craniopharyngioma: the experience at the Policlinico Gemelli, Catholic University, Rome.

BACKGROUND: Craniopharyngioma (CP) is the most common intracranial non-glial tumour observed in pediatric age. Although histologically benign and amenable to surgical treatment, its location and relation with vital nervous and vascular structures makes the feasibility of a radical resection difficult even in the microneurosurgery era. Beside the difficulties experienced when performing tumour resection, post-operative complications, such as endocrinological imbalance, represent another point that makes CP total excision a challenge. In order to avoid such complications, some authors have suggested to renounce to radical resection and to rely on post-operative radiation therapy to minimise the risk of residual tumour progression. METHODS: We report our experience with 52 children and adolescents operated on for CP at the Department of Pediatrics, Section of Pediatric Neurosurgery, Catholic University Medical School, Rome, between January 1985 and December 2002. The study included 14 children <5 years old (five less than 2 years of age), 25 between 6 and 10 years old, and 13 more than 10 years old. The most common presenting signs were related to endocrinological imbalance (35 cases), increased intracranial pressure (32 cases), and to a lesser extent, visual compromise (17 cases). Concerning location, CP was intrasellar in three cases; sellar/suprasellar with prominent prechiasmatic growth in 24 cases; retrochiasmatic/3rd ventricular in 14 cases, and giant (with an extension into the middle and/or posterior cranial fossae) in 11 cases. The tumour was managed by means of a single surgical approach in 47 cases and with a two-stage operation in the remaining five cases. In 11 cases of intrasellar or intra/suprasellar midline location, the first surgical approach was done through the transsphenoidal route (which represented the first step of a staged operation in five instances); in the remaining 41 patients, craniotomy was the first surgical procedure. Radical tumour resection was achieved in 40 cases, subtotal (only small tumour remnants adherent to the carotid arteries, 3rd ventricle floor or visual pathways) in nine, and only partial in the remaining three cases RESULTS: Histology demonstrated the adamantinous variant in all cases. Two surgical deaths were recorded in this series (both following a transsphenoidal approach): one secondary to uncontrollable intra-operative bleeding from the carotid artery, and the other to fulminating bacterial meningoencephalitis. Morbidity included endocrinological disturbances, namely hypopituitarism and diabetes insipidus, in more than 80% of cases, worsening of pre-operative visual deficit in six cases, and transitory neurological deficits in five cases. One late death was recorded 2 years after surgery, secondary to electrolytic imbalance although favoured by a major head trauma with subacute subdural haematoma. Nine recurrences occurred 1-8 years after surgery (three true recurrences, and six re-growths of incompletely resected tumours) that required re-operation. Twelve patients underwent radiotherapy, six after an initially incomplete tumour resection and six following relapse. One patient presented with a malignant thalamic glioma 8 years after radiotherapy. At long-term follow-up, all survivors showed good clinical condition, even though approximately 60% relied on hormone replacement, and some patients presented obesity. Diabetes insipidus has subsided in about 80% of the cases; visual deficits improved or remained stable, whereas post-operative neurological deficits subsided in all but one patient. CONCLUSION: In our experience, radical resection of CP represented the first and almost unique treatment modality. Although not insignificant, post-operative mortality and morbidity do not seem to represent a major contraindication in attempting a radical tumour resection whenever possible. On the other hand, extensive hypothalamic involvement should suggest a less aggressive attitude.

Adolescent↗

Intracranial pressure monitoring in children with single suture and complex craniosynostosis: a review.

INTRODUCTION: One third of patients with craniofacial dysostosis syndromes and about 15-20% of children with single suture craniostenosis have a documented increase in intracranial pressure (ICP). The early detection of intracranial hypertension is important in order to reduce the risks for brain development and visual function. However, in children with craniosynostosis, the clinical manifestations of abnormally increased ICP are difficult to detect, as the majority of patients may have neither warning signs nor symptoms for a long period of time. REVIEW: Moreover, data from the literature suggest that neither fundoscopic nor radiological findings are necessarily related to intracranial pressure recordings in this type of pathology. In this context prolonged ICP monitoring seems actually to be the most valuable diagnostic tool. Extradural, subdural, and intraparenchymal devices have been used, and different softwares have been employed for PC storage and analysis of the data obtained. Most recent series consider mean ICP combined with plateaux waves as the most sensitive indicators in the final evaluation of the results. CONCLUSIONS: The analysis of the literature demonstrates a significant difference in the prevalence of raised ICP preoperatively between non-syndromic and syndromic patients. Among the non-syndromic children, a direct relation between the number of sutures involved and raised ICP is documented. The analysis of plateaux waves seems to be particularly important in children with borderline mean ICP values. Persistent postoperative raised ICP has been described in 6-15% of patients with craniofacial dysostosis. It must be related to the multifactorial etiology of increased ICP in these patients, which includes cerebral venous congestion, upper airway obstruction, and hydrocephalus.

Cerebrospinal Fluid Shunts↗

Developmental plasticity after right hemispherectomy in an epileptic adolescent with early brain injury.

OBJECTIVES: The authors present the case of an adolescent affected with refractory epilepsy due to a neonatal ischemic infarction of the right medial cerebral artery. Hemiplegic since the first months of life, she began presenting motor partial seizures associated with drop attacks at 4.5 years; these were initially well controlled by antiepileptic drugs, but at 10 years seizures appeared again and became refractory. Thus, at 14 years and 10 months, she was submitted to a right hemispherectomy that made her rapidly seizure free. In the post-surgical follow-up lasting 5 years, neuropsychological serial assessments showed an impressive progressive improvement of cognitive skills, namely, visuospatial abilities. This case seems to challenge the widely spread feeling that functional catch-up in brain-injured children could only occur early in life. In effect, the astonishing recovery especially of visuospatial skills in our case occurred in adolescence after a late surgical intervention of right hemispherectomy. METHODS: Different neuropsychological aspects are discussed. The reorganisation process recovered the spatial and linguistic abilities as well as the verbal and visuospatial memory; however, there was a persistent impairment of complex spatial and perceptual skills as well as recall abilities. Despite the deficit of complex visual stimuli processing, the patient showed a good performance in the recognition of unknown faces. CONCLUSIONS: Probably, the absence of seizures in the first 4 years of life could have allowed a generally adequate compensatory reorganisation, successively masked by the persistent and diffuse epileptic disorder. The seizure control produced by surgery eventually made evident the effectiveness of the brain reorganisation.

Adolescent↗

Miller-Fisher syndrome mimicking intracranial hypertension following head trauma.

INTRODUCTION: Miller-Fisher syndrome (MFS) is a polyneuropathy with benign outcome characterized by ophthalmoplegia, limb ataxia and tendon areflexia. Impaired consciousness level and intracranial hypertension are very rare symptoms in MFS. CASE REPORT: We describe the case of a 5-year-old girl who showed intracranial hypertension, transient coma and respiratory failure after mild head injury; moreover the patient showed mild ataxia, areflexia, ophthalmoplegia and autonomic disturbances. These symptoms were suggestive of MFS. Electrophysiologic studies and laboratory tests confirmed the diagnosis and immunoglobulins and steroids were given. The child showed a progressive clinical improvement and the final outcome was good. CONCLUSION: This case, initially managed as trauma injury due to the presence of suggestive signs and clinical history, maskered an atypical presentation of Miller-Fisher syndrome, a rare disorder of central nervous system.

Child, Preschool↗

CSF shunt removal in children with hydrocephalus.

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.

Age Factors↗

Perioperative management of face-to-face craniopagus twins separation.

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.

Anesthesia, Inhalation↗