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Biomedical subjects

C Di Rocco

Publications and source records attributed to C Di Rocco.

At least 73 records · Page 4Linked to original sources
PubMed1999

Neuro-cognitive development and epilepsy outcome in children with surgically treated hemimegalencephaly.

We performed a long-term follow-up of 10 patients with hemimegalencephaly and refractory epilepsy, after having treated them with hemispherectomy. Before surgery, 9 patients presented with delayed motor and cognitive development. Surgery was performed between age 5 months and 4 years and 8 months; the mean postsurgical follow-up was 5 years and 2 months. The epilepsy improved in most cases: 6 patients became seizure-free and 2 presented only dystonic fits. The cognitive outcome was less favourable, even though some improvement of cognitive competence was found in all. The neurological deficit did not increase after surgery, and the quality of life improved significantly. A good cognitive development before surgery, less severe morphological changes in neuroimaging, and functional and anatomical integrity of the "healthy" hemisphere seem to be associated with a better cognitive outcome.

Adolescent↗
PubMed1998

Prognostic implications of hyperglycaemia in paediatric head injury.

Fifty children with head injury were evaluated in an attempt to establish a correlation between post-traumatic hyperglycaemia and long-term outcome. In all the patients, the blood glucose level was measured on admission and on the days following the trauma (threshold of normal value set at 150 mg/dl). Hyperglycaemia was seen more frequently in children with severe head injury than in those with mild and moderate head injury. It was present in 87.5% of the patients with a Glasgow Coma Score (GCS) < or =8 (the average blood glucose level on admission was 237.8+/-92 mg/dl), in 60% of the patients with a GCS of 9-12 (178+/-78.7 mg/dl) and only in 25% of those with a GCS of 13-15 (131.5+/-39 mg/dl). A close correlation was also seen between the outcome and the blood glucose level. In fact, the blood glucose on admission was higher in the patients with a poor outcome, i.e. in those having a Glasgow Outcome Score (GOS) of 2 or 3 and in those who died (GOS 1), than in the patients with a good outcome (GOS of 4 or 5). Finally, hyperglycaemia persisted beyond the first 24 h after trauma in all the children who died or who survived with a poor outcome. Hyperglycaemia, and especially its persistence over time, appears to be an important negative prognostic factor in children with head injury.

Adolescent↗
PubMed1998

"No allogeneic blood transfusion" protocol for the surgical correction of craniosynostoses. I. Rationale.

Improved anesthesiological and surgical care has resulted in a progressively declining need for allogeneic blood transfusion. In infants with craniosynostosis, however, allogeneic blood transfusion is still performed as a routine procedure. In the present paper, the authors describe a protocol they have devised with the aim of limiting or even avoiding allogeneic blood transfusion even in very young patients, consequently avoiding the risks of infective or immunologic reactions associated with the procedure. The protocol is based on stimulation of the hematopoietic system with erythropoietin, selection of an appropriate age for operation when a favorable balance between fetal and adult-type hemoglobin is established (that is after 4-6 months), preoperative preparation of the autologous blood supply, and intraoperative blood salvage.

Age Factors↗
PubMed1998

"No allogeneic blood transfusion" protocol for the surgical correction of craniosynostoses. II. Clinical application.

The authors describe the results obtained in 13 consecutive cases of craniosynostosis operated on according to a protocol devised at avoiding allogeneic blood transfusion. The protocol is based on pre- and postoperative treatment with erythropoietin, preoperative autologous blood donation, preoperative normovolemic hemodilution and intraoperative blood salvage. Nine subjects were affected by simple forms of craniosynostosis, whereas the remaining 4 presented with oxycephaly or craniofacial syndromes. Five of the 13 children were under 7 months and a further 3, under 10 months of age at the time of the surgical operation. Seven children weighed less than 10 kg. Allogeneic blood transfusion was avoided in 11 of the 13 children considered. Two failures - defined as the necessity to reinfuse the patient with an allogeneic blood transfusion - were recorded, 1 of them resulting from an unexpected hemorrhage during surgery. The results obtained indicate that this protocol designed to avoid allogeneic blood transfusion can be safely applied in the great majority of children with craniosynostosis, even when the surgical correction is carried out early in life.

Blood Transfusion, Autologous↗
PubMed1998

Treatment of hydromyelia in spina bifida.

BACKGROUND: Cavitation of the spinal cord (hydrosyringomyelia) seems to be common in spina bifida patients, although the overall clinical and radiological incidence has very rarely been analyzed. The real incidence of the condition is, in fact, difficult to assess as patients with this complication may remain relatively asymptomatic. The mechanisms accounting for the occurrence of hydrosyringomyelia in myelodysplasia are still a subject of debate. Similarly, the indications for the surgical treatment are still to be defined and its results to be assessed. METHODS: In this study, 142 patients with spina bifida were screened with magnetic resonance imaging (MRI) to determine the incidence of hydromyelia. Thirty-two patients presented a cavitating lesion on MRIs of which 18 were not a cause of symptoms and 14 were. Clinical characteristics of the lesions and their correlation to the radiological picture were analyzed. All the symptomatic children underwent surgical treatment. Outcomes were evaluated and correlated also with the MRI findings. RESULTS: A correlation between the presence of symptomatology and the extension and/or dilation of the hydromyelia was observed. A significant relationship between the presence of symptoms and adequate control of associated hydrocephalus was also noted. No correlation was observed between the presence of hydromyelia and the level of the myelomeningocele or the degree of ventricular dilation in those cases that presented with hydrocephalus. The mean age at hydromyelia diagnosis for all patients affected was 3.9 years and, in particular, 4 years for those patients who presented with symptoms. A total of 15 operations were performed in the 14 symptomatic patients. Seven direct procedures were carried out to drain the hydromyelia: five hydroperitoneal shunt insertions and two hydrosubarachnoid shunting procedures. Eight indirect treatments were performed to eliminate the filling mechanism of the hydromyelia: five posterior fossa decompressions, two ventriculoperitoneal shunt revisions, and one spinal cord untethering procedure with terminal syringostomy. All patients improved postoperatively, except one who remained clinically stable at follow-up. This patient had undergone a posterior fossa decompression followed by a hydrosubarachnoid shunting procedure. CONCLUSIONS: The incidence of syringohydromyelia is actually higher than that reported in the literature, although not all lesions are symptomatic. The radiological picture may be helpful in planning a more careful follow-up program for patients theoretically at risk for neurologic deterioration. Surgical treatment is possible with good results in the majority of cases and should be carried out as soon as possible before further deterioration occurs. Not all symptoms respond equally to treatment. Generally, improvement of clinical status correlates with a reduction in size of the hydromyelic cavity on MRI.

Child↗
PubMed1997

Opitz C trigonocephaly syndrome and midline brain anomalies.

We describe a child with trigonocephaly, strabismus, upslanting palpebral fissures, nasal bridge hypoplasia, hypertrophic alveolar ridges and large gingivo-labial frenula, short neck, hip "dysplasia," equinovarus deformities, cryptorchidism, atrial septal defect ostium secundum, and severe mental retardation, findings consistent with C syndrome. The patient also had a Dandy-Walker malformation, complete callosal agenesis, and occipital meningocele. These structural defects are independent of the premature closure of the metopic suture, and confirm that midline brain anomalies are part of C syndrome. The hypothesis that the basic developmental defect in this syndrome primarily affects the midline field is supported by the concomitance of other anomalies, such as conotruncal heart defects, omphalocele, and genital anomalies.

Agenesis of Corpus Callosum↗
PubMed1997

Prognosis of medulloblastoma in infants.

The prognosis of medulloblastoma in children less than 3 years old is usually considered to be rather poor. However, recent experiences with this type of tumour seem to indicate that survival in this specific subgroup of patients can be longer than expected. Nineteen infants with posterior fossa tumours treated by the authors in the period 1983-1994, all of them with symptoms presenting during the 1st year of life and all operated on before the end of the 2nd year of life, have been retrospectively analysed. Total tumour removal was achieved in 14 cases, subtotal in 1 and partial in 3. One subject underwent only a biopsy of the tumour. In 14 patients a CSF shunt was inserted. Chemotherapy was administered to 18 out of the 19 patients in the series. At the time of the study, 11 children had died (57.9%) and 8 were alive (42.1%; mean survival 86.5 months). One patient died of complications secondary to the surgical treatment. Three patients died because of local recurrence of the tumour after apparent total excision, death supervening 5, 12 and 18 months after the surgical treatment. A further 2 patients in whom total tumour removal had been performed died 3 and 17 months after surgery of local recurrence of the disease associated with regional metastases. Progression of the residual tumour, accompanied by metastatic dissemination in 3 cases, accounted for death in the other 5 patients who did not survive. Brain stem infiltration appeared to be the most significant adverse prognostic factor. All 8 long-term survivors had their tumour totally excised. Five of them underwent radiotherapy when at least 2 years old. On the basis of the results, the authors conclude that the current prognosis of infants with medullo-blastoma is not necessarily any worse than that of older children with the same disease and that chemotherapy can be particularly useful in this subgroup of patients, as shown by 3 long-term survivals obtained in children treated with this type of therapy only.

Antineoplastic Agents↗
PubMed1997

Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome.

Pfeiffer syndrome is a skeletal disorder characterized by craniosynostosis associated with foot and hand anomalies. Mutations in the genes encoding fibroblast growth factor receptors 1 and 2 (FGFR1 and FGFR2) have recently been implicated in the aetiology of such a syndrome, as well as of other craniosynostotic conditions. We now report a novel missense mutation, a G to C transversion at position 1049 (exon IIIa) of FGFR2, detected in a patient with severe Pfeiffer clinical features. The mutation results in the substitution of a cysteine for tryptophan-290 in the third immunoglobulin-like domain and affects both spliceoforms of FGFR2. Mutations causing replacement of tryptophan-290 have also been reported previously in Crouzon syndrome, a similar but clinically distinct craniosynostotic disorder. This finding confirms the involvement of mutations of FGFR2 exon IIIa in Pfeiffer syndrome, and emphasizes both the extensive heterogeneity of the FGFR2 mutations that result in the Pfeiffer phenotype and the perturbations caused by unpaired cysteine residues in receptor dimerization and transduction of the FGFs signal.

Acrocephalosyndactylia↗
PubMed1997

Jackson-Weiss syndrome: identification of two novel FGFR2 missense mutations shared with Crouzon and Pfeiffer craniosynostotic disorders.

Jackson-Weiss syndrome is a rare skeletal disorder characterized by craniosynostosis associated with foot malformations. This condition is inherited as an autosomal dominant trait with complete penetrance and wide phenotypic heterogeneity. Mutations in the fibroblast growth factor receptor 2 (FGFR2) gene have been recently identified as causes of this syndrome and of at least four other craniosynostotic disorders, namely the Apert, Beare-Stevenson cutis gyrata, Crouzon and Pfeiffer syndromes. We report two novel FGFR2 missense mutations associated with phenotypes consistent with Jackson-Weiss syndrome. Both nucleotide changes predict a serine for cysteine-342 substitution in the second half of the third immunoglobulin-like domain. The replacement of Cys342 with arginine has previously been reported in one of the three Jackson-Weiss cases investigated. Interestingly, both Cys342Ser and Cys342Arg substitutions have been found to be associated with the Crouzon and Pfeiffer phenotypes; a phenotypic heterogeneity, Crouzon vs Jackson-Weiss clinical features, has been also observed for Gln289Pro and Ala344Gly amino-acid changes. This finding indicates the genetic homogeneity of the "heterogeneous" Jackson-Weiss phenotype and a common molecular basis for these apparently "clinically distinct" craniosynostotic disorders.

Acrocephalosyndactylia↗
PubMed1997

Poor outcome of bilateral congenital choroid plexus papillomas with extreme hydrocephalus.

Bilateral choroid plexus papillomas, or villous hypertrophy of the choroid plexus, is a very rare entity that presents serious therapeutical problems in the management of secondary oversecretive hydrocephalus. The authors report the cases of 2 infants affected by this condition, and cured with removal of the lateral ventricle papillomas and with cerebrospinal fluid (CSF) ventriculoperitoneal shunt insertions. In both cases the CSF shunting alone or the removal of only 1 papilloma did not suffice in controlling the intracranial hypertension. In both infants late outcome was unsatisfactory. The poor prognosis associated with bilateral choroid papillomas in the infants described in the present report may be explained by the precocious onset of the disease, diagnosed during fetal life, and by the marked cerebral alterations already apparent in the immediate postnatal period on the neuroradiological examinations. Repeated surgical procedures, which were necessary to control the associated hydrocephalus in these patients, might have also played a significant negative role.

Choroid Plexus Neoplasms↗
PubMed1997

Cavernous angiomas of the brain stem in children.

Out of 27 children with intracranial cavernous angiomas observed in a 17-year period of time, 3 presented with their lesion located in the brain stem. A further 19 pediatric cases of brain stem cavernous angiomas sufficiently well described for a reliable analysis were collected from the literature and evaluated for the present study. The widespread use of MR imaging has significantly increased the possibility of recognizing brain stem cavernomas at an early age; indeed, their incidence is nowadays regarded to range between 9 and 15% of pediatric cavernous angiomas. A female predominance was noted in the present study. Focal neurological deficits are the most frequent presenting symptoms; they tend to occur acutely in most cases, although subsequent improvement may then be observed in several patients. Recurrent hemorrhages from the angioma result usually in heavier neurological signs. Surgical approaches have to be planned according to the location of the lesion, and to the site where the angioma is eventually in contact with the pial or ependymal surface. No surgical deaths were observed in these 22 children; only 2 patients presented a mild persistent worsening of their neurological status after the operation. These good results indicate that brain stem cavernous angiomas are actually a surgical lesion in spite of their apparently unfavorable location. The good prognosis is related to the anatomophysiological features of these lesions, which usually displace the brain stem structures rather than invade them, and are characterized by a low-pressure and slow blood flow circle.

Adolescent↗
PubMed1997

Combined management of intracranial vascular malformations in children.

UNLABELLED: We have reviewed 39 cases of intracranial vascular malformations, observed in the Section of Paediatric Neurosurgery of the Catholic University of Rome between 1980 and 1995 (age 1-15 years). Diagnosis was of parenchimal AVM in 26 cases, in 7 cases of AVM of the Galen region, in 5 cases of dural AVM and in 1 case of venous angioma. RESULTS AND CONCLUSIONS: Haemorrhage was the prevalent clinical onset in patients with parenchimal AVMs (57.7% of cases). Only one patient with a Galen region AVM presented cardiovascular symptoms, while 2/5 children observed for a dural AVM complained a congestive heart failure. Total surgical excision was performed in 17 of the 26 patients with parenchimal AVMs; moreover surgery was combined with preoperative endovascular embolization in 2 cases and with radiosurgery in 1 patient; we think that surgery is still the treatment of choice in patients with parenchimal AVMs. Endovascular treatment and radiosurgery have mainly an adjuvant role; nevertheless we agree that a preoperative endovascular management of parenchimal AVMs reduces the surgical risk, especially in cases of huge AVMs or AVMs localized in eloquent areas of the brain. Radiosurgery may be an alternative choice for complex or deeply sited AVMs; however in most cases, a combination with surgery or endovascular treatment is necessary to reduce the "target" size. AVM embolization was the only treatment in 2 of the 6 cases of dural AVMs; dural AVM embolization was combined with surgery in 1 case. Endovascular AVM exclusion is the treatment of choice in these patients. Surgery may be combined with endovascular treatment in case of a partial persistence of the AVM, or if signs of revascularization are present on control angiography. A conservative management is justified in patients with carotido-cavernous fistulae; in fact a complete spontaneous thrombosis is very frequent in these cases. A high rate of cardiovascular symptoms is reported in patients with Galen region AVMs diagnosed in the 1st year of life, but only 1 of our patients complained of congestive cardiac symptoms. Surgical treatment of Galen region AVMs is associated with a high morbidity and mortality. Actually a transarterial embolization of afferent vessels represents the treatment of choice in these patients; it can be combined with transvenous approach in case of complex AVMs and/or a non complete AVM exclusion.

Adolescent↗
PubMed1997

Surgical management of paediatric cerebral cavernomas.

Over the past 15 years (1981-1995) 24 children with cerebral cavernous angiomas have been treated surgically at the Section of Pediatric Neurosurgery of the Catholic University of Rome. The most common symptoms at presentation were epilepsy (13 children) and intracranial hypertension (9 children). None of these patients had a family history of cerebro-vascular malformations. Multiple lesions were detected in two subjects. In 19 cases, radiological signs of significant acute and subacute hemorrhage were present at the radiological examinations. The supratentorial compartment was the most frequent localization of the lesions, with only four cavernomas observed in the subtentorial space. The post-surgical results were good: only nine children had a persistence of the presurgical neurological signs, although ameliorated by the treatment; no patient showed a progression of pre-operative neurological signs, neither the onset of new deficits; only one child died, but his clinical conditions were very critical before surgery. Our results suggest that the youngest children present with evidence of significant hemorrhages more frequently than their older counterpart. In our series, the removal of cavernomas allowed to control the seizure disorders in all the case, thus suggesting that in this type of malformative lesion, lesionectomy alone may be sufficient to resolve epilepsy.

Adolescent↗
PubMed1996

Shunt complications in the first postoperative year in children with meningomyelocele.

The authors analyze the incidence of early mechanical and infective CSF shunt complications and various factors that might be correlated with the incidence in a series of 170 children affected by hydrocephalus and meningomyelocele (MM), with the aim of the finding to this specific risk factors related to this particular type of hydrocephalus. Factors investigated for correlation with CSF shunt malfunction are the following: level of spinal malformation, age of the patient at MM repair, age at diagnosis of hydrocephalus, degree of ventricular dilatation, age at shunt implantation, modality of the surgical procedure, characteristics of CSF at operation. In the first postoperative year following CSF shunting, 45.9% of the patients presented one shunt malfunction, three-quarters of which were due to mechanical causes, and one quarter to infection. Age of the patient at diagnosis of hydrocephalus and at CSF shunt operation did not significantly influence shunt patency, nor did the surgical modality (programmed vs emergency procedure). On the other hand, MM level did influence the outcome of CSF shunting: a higher percentage of malfunctions (and in particular of infective complications) was observed among the patients with "high level" MMs than in the group with more caudal location of the spinal defect. Similarly, the degree of ventricular dilatation correlated with the incidence of complications (more severe ventricular dilatation was associated with the highest incidence of complications). The order in which MM repair and CSF shunting were carried out and the age of the patients at MM repair did not affect the occurrence of mechanical complications, whereas they had a significant effect on the incidence of infective complications. In fact, the rate of overall complications, and of infective complications in particular, was proportional the age at MM repair. Furthermore, the group of children who underwent to MM repair and CSF shunting simultaneously scored the lowest percentage of complications, although these were mainly infections; the highest incidence of complications (and in particular of infective ones) was observed in the children who underwent CSF shunting first. The most striking correlation, however, was found with the characteristics of CSF. While normal CSF values correlated with an overall incidence of complications of 39.2%, abnormal CSF values were correlated with a rate of complications of 90.9%; in particular, the rates of infective complications were 2.7% and 77.3%, respectively. On the grounds of these observations a protocol is proposed of temporary CSF external drainage in children requiring prompt relief of increased intracranial pressure but at risk for the presence of a leaking spinal defect or of a MM left unrepaired for more than 48 h.

Cerebrospinal Fluid Shunts↗
PubMed1996

Hemimegalencephaly. Histological, immunohistochemical, ultrastructural and cytofluorimetric study of six patients.

Hemimegalencephaly (HME) is an uncommon sporadic nonfamilial congenital dysplastic abnormality of the central nervous system, characterized by enlargement of one cerebral hemisphere, with cranial asymmetry, hemiparesis, epilepsy, and mental retardation. It can occur in isolation or associated with various anomalies, namely skin disorders. The main neuropathologic findings are hemispheric gigantism, macro- and/or micropolygyria, cortical thickening with lack of lamination, blurred boundaries of the gray and white matter, and large ortho- and heterotopic neural cells. The results obtained by morphological investigations carried out on six patients with HME, compared with the findings recorded in similar studies performed on one patient with tuberous sclerosis (TS) and another with pachygyria, allow the authors to (a) confirm the dysplastic nature of HME and its autonomy from TS; (b) demonstrate that ortho- and heterotopic neuronal cells do not differentiate completely during proliferation and migration from the germinal matrix; (c) document, by means of flow cytometric study, a normal euploid DNA content in the enlarged hemisphere, consequently ruling out heteroploidy as a cause of both cell "hypertrophy" and enlargement of the malformed cerebral hemisphere.

Brain↗