Biomedical subjects
Concezio Di Rocco
Publications and source records attributed to Concezio Di Rocco.
Visual development in infants with prenatal post-haemorrhagic ventricular dilatation.
OBJECTIVE: The aim of this study was to assess visual function in 13 infants with evidence of prenatal post haemorrhagic ventricular dilatation. DESIGN: Infants were assessed at 5, 12 and 24 months using a battery of tests specifically designed to assess various aspects of visual function in infancy. Visual findings were correlated with several variables, including extent of the lesion and presence of epilepsy. RESULTS AND CONCLUSIONS: Abnormalities of visual function were frequent (over 60%) in our cohort at age 2 years, ranging from isolated abnormal ocular movements to severe abnormalities of all the aspects of visual function assessed. The most severe and persistent abnormalities of visual function were found in infants with grade IV intraventricular haemorrhage and shunted hydrocephalus who also had epilepsy in the first year.
Symptomatic epilepsy in children with poroencephalic cysts secondary to perinatal middle cerebral artery occlusion.
BACKGROUND: Perinatal cerebral artery occlusion is responsible for ischemic cerebral infarction leading to brain cavitation and gliosis; the territory of the middle cerebral artery is most frequently involved. The resulting poroencephalic cysts are frequently associated with hemiplegia and epilepsy; that can be managed medically in most cases, only 6-7% of them being refractory to medical treatment. This particular subset of congenitally hemiplegic children will be possible candidates for electrophysiological investigation and eventually for resective surgery. Whatever the kind of surgical treatment, surgery should be performed as soon as possible to optimize functional brain reorganization. CLINICAL MATERIAL: Twelve children with poroencephalic cysts and refractory epilepsy were studied and operated on at the Divisions of Child Neurology and Pediatric Neurosurgery, the Catholic University Medical School, Rome. The hemiparesis ranged from mild to moderate; the developmental delay was of mild degree in three cases, moderate in four cases and severe in the remaining five. Behavioral disorders were observed in patients with mental retardation; two of them also manifested autistic features. All the children presented with a severe epileptic syndrome (starting almost invariably during the first year of life); six patients presented with a West syndrome followed by symptomatic partial epilepsy; the other six presented with partial epilepsy, followed in two cases by continuous spike-waves during sleep. The electroencephalograph (EEG) recordings disclosed focal unilateral interictal epileptiform abnormalities that usually corresponded to the side of the cystic lesion; however, paroxysmal activity often spread synchronously over the contralateral hemisphere. The selection of candidates for surgical treatment was based on neuroimaging and video-EEG monitoring; in particular, we did not use invasive intraoperative neurophysiologic techniques. The convergence of neuroimaging and neurophysiologic findings guided us in performing a limited cortical excision corresponding to the malacic cortex (cyst "membrane"). RESULTS: All the patients underwent excision of the cyst wall. Careful attention was paid not to enter the body of the lateral ventricle to avoid ventriculo-subarachnoid fistulas, eventually responsible for subdural hygroma or cerebrospinal fluid leak. There was one surgery-related death secondary to disseminated intravascular coagulation, following an otherwise uneventful surgical procedure. An elevated systemic blood pressure, secondary to repeated adrenocorticotropic hormone therapy, can represent a possible concurrent factor for this event. No major complications were recorded among the remaining 11 children. Seizure control was excellent in all the 11 survivors in the early postoperative period. Two children presented a relapse of seizures, after an initial improvement, respectively 3 and 4 years after the operation. These two children underwent subsequently a functional hemispherectomy. Overall, seizure outcome was excellent in all the cases. Seven patients (including the two who underwent functional hemispherectomy) are seizure-free (Engel's class Ia), and in one of them antiepileptic therapy has been weaned. In the remaining five children, seizures are sporadic and definitely improved (Engel's class II). An improvement of developmental delay, in particular of cognitive competence, was registered in 8 out of the 11 patients. Two of the four severely retarded children, who also presented behavioral abnormalities, did not show any cognitive improvement, whereas some mild improvement of their basal abilities was demonstrated in the other two. All the remaining children, even though maintaining a moderate retardation, definitely improved their abilities; in particular, one of them reached an almost borderline level. The three patients with unchanged neurodevelopmental delay presented also persistent seizures. On the other hand, two children with persistent seizures presented neurodevelopmental improvement. CONCLUSIONS: Simple surgical excision of the cyst "membrane" of epileptogenic poroencephalic cysts can represent an excellent means to control epilepsy in affected children. However, postoperative seizure persistence and late recurrences, although rare, do not allow to exclude that hemispherectomy or partial resections (based on electrocorticography findings) might represent the good answer at least in some cases.
Editorial on "Surgical treatment of epilepsy in children".
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Unusual presentation of intradural endodermal cysts in young children under 2 years of age. Report of two cases.
INTRODUCTION: Spinal endodermal cysts are congenital maldevelopmental lesions usually presenting in early adulthood. Whereas the diagnosis is rare in newborns and it is usually led by cardiopulmonary distress or other associated malformations, no characteristic clinical findings associated with these entities have been described in older patients where spinal endodermal cysts usually behave as intraspinal space occupying lesions. DISCUSSION: The authors report on two children under 2 years of age affected by cervical endodermal cysts that presented with a history of acute motor deficit following a laryngitis. The hypothesis about the pathogenesis is that the upper respiratory tract infection might have stimulated the secretion of the cyst lining, inducing growth of the cyst and the sudden appearance of the motor deficit. Because of the apparent lack of relation between the benign laryngitis and the motor deficit, the occurrence of such an association might have been underestimated in some of the previously reported cases.
Proposal of "evolution theory in cerebrospinal fluid dynamics" and minor pathway hydrocephalus in developing immature brain.
BACKGROUND: The specificity of cerebrospinal fluid (CSF) dynamics in the immature brain still remains unknown. In our data previously published, the transependymal intraparenchymal CSF pathway (the minor pathway) plays a significant role in various degrees in the alternative CSF passage. Now, there is a growing consensus in the age differences in the outcome of neuroendoscopic ventriculostomy in treatment of non-communicating types of hydrocephalus. The authors discuss the clinical significance of the specific CSF dynamics and propose the new aspect of classification of hydrocephalus with a theory in the development of CSF from the pathophysiological point of view. PATIENTS AND METHODS: Between January 2001 and March 2004, 122 hydrocephalic children were registered at the Jikei University Hospital Women's & Children's Medical Center (JWCMC), Tokyo. Our retrospective study for the efficacy of neuroendoscopic ventriculostomy confirmed the significantly high failure rate of neuroendoscopic ventriculostomy in treating hydrocephalus in neonates and infants with non-communicating hydrocephalus as the initial impression. The prospective CSF dynamic studies using cine-mode MRI and CT ventriculo-cisternography were then routinely started. Altogether, 9 out of 29 (31%) endoscopically treated cases needed shunt placement 3-30 weeks (mean 7.9 weeks) after the endoscopic procedure(s) (publication in preparation). Five out of 11 (45%) neonates/infants under 3 months, 3/5 (60%) infants at 7-12 months, 10/10 (100%) toddlers at 1-4 years and 3/3 (100%) schoolchildren at 5-17 years were cured, as in the condition of "post-endoscopic ventriculostomy arrested hydrocephalus". The pattern of ventriculo-cisternography in neonatal/infantile cases revealed intraparenchymal predominant pattern (minor pathway) of the CSF dynamics rather than passage in the major pathway. DISCUSSION: The various basic investigations in rodents, cats and monkeys have suggested that CSF is absorbed not via Pacchionian bodies as the last end of the major pathway, which do not exist in these animals and are recognized after infantile period in human, but through the choroids plexus and the periventricular fenestrated venous capillaries into the deep venous channel. The high incidence of "failure to arrest hydrocephalus" by neuroendoscopic ventriculostomy in fetal, neonatal and infantile periods was considered to depend on the specific CSF dynamics, in which the major CSF pathway has not developed and the minor pathway has a significant role. PROPOSAL OF THEORY: We herein propose a new aspect of classification for hydrocephalus with special reference to the CSF circulation in the minor CSF pathway, i.e. "minor pathway hydrocephalus", differentiating the conventional classification by Dandy (communicating and non-communicating) or Russell (non-obstructive and obstructive) as "major pathway hydrocephalus". We also herein propose a hypothesis that the CSF dynamics develop in the theory of evolution from the immature brain, as in the animals with the minor CSF pathway predominance, towards matured adult human brain together with completion of the major CSF pathway: the "evolution theory in CSF dynamics".
Activating PTPN11 mutations play a minor role in pediatric and adult solid tumors.
The PTPN11 gene encodes SHP-2, a widely expressed cytoplasmic protein tyrosine phosphatase functioning as a signaling transducer. Germ-line PTPN11 mutations cause Noonan syndrome (NS), a developmental disorder characterized by an increased risk of malignancies. Recently, a novel class of activating mutations in PTPN11 has been documented as a somatic event in a heterogeneous group of leukemias. Because of the relatively higher prevalence of certain solid tumors in children with NS and the positive modulatory function of SHP-2 in RAS signaling, a wider role for activating PTPN11 mutations in cancer has been hypothesized. Here, we screened a number of solid tumors, including those documented in NS or in which deregulated RAS signaling occurs at significant frequency, for PTPN11 mutations. No disease-associated mutation was identified in rhabdomyosarcoma (n = 13), neuroblastoma (n = 32), melanoma (n = 50), thyroid (n = 85), and colon (n = 48) tumors; a novel missense change, promoting an increased basal phosphatase activity of SHP-2, was observed in one glioma specimen. Our data document that deregulated SHP-2 function does not represent a major molecular event in pediatric and adult tumors, further supporting our previous evidence indicating that the oncogenic role of PTPN11 mutations is cell-context specific.
The role of endoscopic choroid plexus coagulation in the surgical management of bilateral choroid plexuses hyperplasia.
BACKGROUND: Bilateral choroid plexus hyperplasia is a rare condition often associated with cerebrospinal fluid (CSF) overproduction. CSF overproduction is usually so high that the placement of a CSF ventriculoperitoneal shunt almost always results in progressive ascites leading to the necessity of removing the inserted shunt device. A direct surgical treatment of the hyperplastic choroid plexuses is then mandatory. Endoscopic coagulation of the choroid plexuses has been recently proposed as an alternative to open surgical plexectomy. However, the effectiveness of the procedure in controlling CSF overproduction is still debated. TECHNIQUE: We report a case of bilateral choroid plexus hyperplasia in which an extensive bilateral endoscopic coagulation of the choroid plexuses failed to reduce the CSF formation rate sufficiently. A one-stage bilateral open surgical plexectomy was performed. RESULTS: The procedure succeeded to control CSF overproduction. Intraoperative blood loss during the surgical removal of the choroid plexuses was significantly reduced due to the previous coagulation of their surface. CONCLUSION: On these grounds, we suggest that endoscopic choroid plexuses coagulation, even when failing to normalize CSF production, may still be considered as a valid adjuvant procedure in the management of this condition.
Skull perforators in fetal encephalotripsia.
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Dandy Walker variant and persistent occipital sinus at the museum La Specola in Florence.
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Mozart: a metropolitan legend with pediatric neurosurgical implications.
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Botticelli and the Babinski sign.
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Late closure of the stoma by spreading of a periaqueductal glioma: an unusual failure of endoscopic third ventriculostomy. Case report.
The late failure of endoscopic third ventriculostomies (ETVs) has been described as a consequence of scarring phenomena involving the third ventricular floor. Although the possibility of closure of the stoma by intraventricular tumor seeding has been hypothesized, no case of ETV failure caused by tumor diffusion has been reported in the literature. The authors report on a 19-year-old patient, affected by obstructive hydrocephalus associated with a periaqueductal pilocytic astrocytoma, who underwent late secondary lesional obstruction of an ETV performed at diagnosis. The authors suggest tumor extension along the diencephalic neural pathways as the possible cause of ETV failure in this patient.
Surgical management of craniopharyngiomas--experience with a pediatric series.
Because of their peculiar location and the possible related postoperative sequelae, craniopharyngiomas usually present difficult management, especially in children. The authors report on 20 years experience with a pediatric series. Fifty-four consecutive children were operated on. The goal of surgery was total tumor removal. When pre-operative neuroimaging and/ or intra-operative findings suggested more cautious behavior, subtotal/partial excision was performed, followed by radiotherapy only in selected cases. Gross total mass removal was obtained in 78% of patients, subtotal in 17%, and partial in 5%. Recurrence rate was 7% after total removal and 50% after subtotal/ partial excision. Surgical mortality accounted for 3.7% (11% in case of re-operation). After 9 years median follow-up, up to 60% of the surviving patients rely on hormone replacement, 40% present diabetes insipidus, and 18% are obese. All but two patients enjoy a normal social life. Total surgical removal of craniopharyngiomas should be attempted in children whenever possible in order to minimize the risk of recurrence. In case of huge tumors involving the hypothalamus, a more conservative resection should be performed, followed by a 'wait and see' policy or possible radiotherapy.
Craniosynostosis in old Greece: political power and physical deformity.
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Massa intermedia: mental development.
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Neurotrophic factor expression in three infants with Ondine's curse.
This study investigates the expression of some neurotrophic factors (brain-derived neurotrophic factor, glial-derived neurotrophic factor, and nerve growth factor) in the cerebrospinal fluid of infants suffering from idiopathic congenital central hypoventilation syndrome and determines their correlations with this syndrome. Cerebrospinal fluid samples were collected from three infants suffering from idiopathic congenital central hypoventilation syndrome and 15 control subjects with obstructive hydrocephalus to measure the expression of brain-derived neurotrophic factor, glial-derived neurotrophic factor, and nerve growth factor using an immunoenzymatic assay. In the cerebrospinal fluid of patients, analysis of neurotrophic factors expression indicated a reduction, not statistically significant, of brain-derived neurotrophic factor compared with the mean level of the control group (1554 pg/mL, 1509 pg/mL, and 1582 pg/mL respectively, in comparison to 1954 +/- 103 pg/mL), whereas nerve growth factor and glial-derived neurotrophic factor did not undergo significant variations in either group. Neurotrophic factors, namely brain-derived neurotrophic factor, regulate the maturation and differentiation of respiratory neurons. The reduced expression of brain-derived neurotrophic factor in the cerebrospinal fluid samples of infants with Ondine's curse, although not statistically significant, is suggestive of a dysregulation in the brain-derived neurotrophic factor synthesis that could play an important role in the breathing disorders observed in patients with idiopathic congenital central hypoventilation syndrome.