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L Genitori

Publications and source records attributed to L Genitori.

At least 19 recordsLinked to original sources

Cooperative study by the Italian neuroendoscopy group on the treatment of 61 colloid cysts.

OBJECTS: Microsurgical resection, stereotactic aspiration and VP shunt have for years been the choice options for the treatment of colloid cysts of the third ventricle. Recently, endoscopic approaches have aroused increasing interest and gained acceptance. Although safer, this minimally invasive approach is considered less efficacious than microsurgery. Relatively long-term results are now available and some conclusions might be inferred on the usefulness of this procedure. MATERIALS AND METHODS: Between 1994 and 2005, 61 patients harbouring a colloid cyst of the third ventricle were treated with neuroendoscopic technique in 11 Italian neurosurgical centres. Cyst diameters ranged from 6 to 32 mm. A flexible endoscope was used in 34 cases, a rigid one in 21, both instruments in six. The technique consisted in cyst fenestrations, colloid aspiration, coagulation of the internal cyst wall and, occasionally, capsule excision. Mean postoperative hospital stay was 6.7 days. Early postoperative neuroimaging revealed a cyst residue in 36 cases (mean diameter 4.3 mm). There were two complications (3.2%). Follow-up varied between 1 and 132 months (mean 32 months, more than 5 years in 17 patients). There were seven asymptomatic recurrences, three of them evolving from a previous residue. CONCLUSION: The endoscopic approach to the treatment of colloid cysts is safe, effective and well accepted by patients. Although asymptomatic, recurrences (11.4%) cast a persisting shadow on the long-term results, and, therefore, the controversy with the traditional microsurgical treatment remains open.

Adolescent↗

Diffuse and focal brain stem tumors in childhood: prognostic factors and surgical outcome. Experience in a single institution.

OBJECTIVE: Brainstem tumors (BSTs) are usually gliomas and are divided into diffuse BSTs (DBSTs) and focal BSTs (FBSTs). The aim of this study is to investigate the different outcomes of these two entities. METHODS: Thirty-one patients with BSTs were admitted to our institution from 1995 to 2003. Patients with DBSTs were treated with locoregional radiotherapy (1.8 Gy/day for 54 Gy) and weekly vincristine for radiosensitization (1.5 mg/sm for six total doses). Patients with FBSTs underwent surgical resection. Chemotherapy and/or radiotherapy were considered in progression. RESULTS AND CONCLUSIONS: Fourteen patients were diagnosed as having DBSTs. The responses to treatment were ten cases of partial response, three of stable disease, and one of progressive disease. General and/or neurological symptoms improved in more than 80% of patients. The median time from diagnosis to progression and to death were, nonetheless, 8 (range of 3-13) and 13 (range of 4-25) months, respectively, with a 2-year overall survival rate of 12.3% [standard error (SE) 11.2]. Seventeen patients were diagnosed as having FBSTs. Gross total removal was achieved in 4/17 cases, subtotal removal in 7/17, and partial removal in 6/17. There was one surgery-related death. Eight out of 17 patients had adjuvant chemo- and/or radiotherapy after progression: 6/8 are without neurological symptoms and 2/8 have died due to tumor progression. The 4-year overall and disease-free survival rates are 87.4 (SE 8.4) and 58.8% (SE 11.9), respectively, the extent of resection being the most important prognostic factor (p=0.012). DBSTs continue to carry a dismal prognosis, thus demanding new treatment modalities; FBSTs can be treated surgically and patients benefit from a better prognosis.

Adolescent↗

Hypothalamo-hypophysial dysfunction after traumatic brain injury in children and adolescents: a preliminary retrospective and prospective study.

With two study protocols, one retrospective and the other prospective, we evaluated hypothalamo-hypophysial dysfunction (HHD) in paediatric patients treated for traumatic brain injury (TBI) in the neurosurgical or intensive care department at our hospital. The retrospective group comprised 22 patients who had experienced TBI 0.7-7.25 years before the study. The prospective group included 30 patients assessed at TBI (T0), 26 of 30 after 6 months (T6), and 20 of 26 after 12 months (T12). Auxological and hormonal basal parameters of hypothalamo-hypophysial function were evaluated at recall in the retrospective group, and at T0, T6 and T12 in the prospective group. Basal data and standard dynamic tests in selected patients revealed one with precocious puberty, one with total anterior hypopituitarism, one with central hypogonadism, and one with growth hormone (GH) deficiency in the retrospective group; three patients with cerebral salt-wasting syndrome, one with diabetes insipidus and seven with low T3 syndrome at T0 (all transient), one with hypocorticism at T6 confirmed at T12, and one with GH deficiency at T12 in the prospective group. The results of our study show that post-TBI HHD in our paediatric cohort is not uncommon. Of the 48 patients who underwent a complete evaluation (22 retrospective study patients and 26 prospective study patients evaluated at T6) five (10.4%) developed HHD 6 months or more after TBI. HHD was newly diagnosed in one previously normal patient from the prospective group at 12 months after TBI. GH deficiency was the most frequent disorder in our paediatric cohort.

Adolescent↗

Endocrine function and water metabolism in children and adolescents with surgically treated intra/parasellar tumors.

Hydroelectrolytic disorders often complicate surgery of intra/parasellar tumors in children and adolescents. Eighteen patients undergoing microneurosurgical procedures for intra-supra-sellar craniopharyngioma (10 patients), hypothalamic germinomas (3 patients), hypothalamic-chiasmatic astrocytomas (3 patients), pituitary adenomas (2 patients) were studied. The hydroelectrolytic balance was assessed from 8 hours before surgery to 1 week after with a specific protocol in which water metabolism alterations were treated with standard procedure. Diabetes insipidus (DI) was observed in 10/18 patients before surgery and in 15/18 patients after surgery; during surgery it was effectively treated with synthetic desmopressin (DDAVP) and hydroelectrolytic solutions. Hyponatremia, isolated or associated (with diuresis contraction or polyuria), seen during surgery and in the following 24 hours, was treated with variation of the infusion rate. We show that close monitoring and treatment of hydroelectrolytic disorders in patients submitted to neurosurgery for intra/ parasellar tumors may significantly reduce their morbidity and mortality rate.

Adolescent↗

Thyroid dysfunction as a late effect in childhood medulloblastoma: a comparison of hyperfractionated versus conventionally fractionated craniospinal radiotherapy.

PURPOSE: Primary hypothyroidism is a common sequela of craniospinal radiotherapy in the treatment of childhood medulloblastoma. Due to the strong radiobiologic rationale, hyperfractionation can reduce the delayed effects of radiation injury. METHODS AND MATERIALS: The authors compared the incidence of thyroid dysfunction after conventionally fractionated radiotherapy (Group A, n = 20 patients) vs. hyperfractionated radiotherapy (Group B, n = 12 patients) in a group of pediatric patients with posterior fossa primitive neuroectodermal tumor (PNET). RESULTS: The mean age at the time of tumor diagnosis was 7.4 years in Group A and 8.4 years in Group B. Thyroid function was evaluated yearly, with ultrasonographic examination every 2 years. The patients were followed after diagnosis for a mean of 10.8 years for Group A and 6.0 years for Group B. Approximately 80% of the Group A (16/20) and 33.3% of the Group B (4/12) patients developed primary hypothyroidism within a similar period after irradiation (4.2 vs. 3.5 years, respectively). Analysis by cumulative incidence function demonstrated a significant difference in the risk of developing thyroid dysfunction between these two groups of patients (p < 0.05). Ultrasonography showed reduced thyroid volume in 7 Group A patients and structural changes in 21 patients (17 Group A, 4 Group B cases); a thyroid benign nodule was detected in 2 Group A patients. CONCLUSIONS: The current study findings suggest that the use of hyperfractionated craniospinal radiotherapy in the treatment of childhood medulloblastoma is associated with a lower risk of these patients' developing late thyroid dysfunction.

Antineoplastic Combined Chemotherapy Protocols↗

Thyroid diseases in patients treated during pre-puberty for medulloblastoma with different radiotherapic protocols.

We evaluated thyroid disease in 32 patients treated, during pre-puberty, for medulloblastoma, followed for at least 4 years and without relapse during observation. After surgery the patients underwent chemotherapy (CT) and radiotherapy (RT). The protocols were as follows: 20 patients (group A) SNC 76 and SNC 85 protocols which included conventional fractionated RT (36-40 Gy to the craniospinal axis and a 14-18 Gy boost to the posterior fossa, administered as 1.5-1.8 Gy per fraction per day) and a junction between the cranial and the spinal fields at C2-C3 level; 12 patients (group B) SNC 91 protocol which included hyperfractionated RT (36 Gy to the craniospinal axis and a 30 Gy boost to the posterior fossa; this was administred as 1 Gy per fraction twice per day) and a junction at levels C5-C6 or C6-C7 level. The mean age at diagnosis was 7.4+/-3.2 years for group A and 8.4+/-2.6 years for group B. Thyroid function was evaluated yearly and ultrasonographic characteristics every 2 years. The patients were followed for a mean of 10.8+/-3.8 for group A and 6+/-1.4 years for group B. Primary hypothyroidism was diagnosed in 16 group A patients and 4 group B patients, and central hypothyroidism was diagnosed in 2 group A patients (difference in risk of developing hypothyroidism evaluated with a Wilcoxon-test: p=0.048). Ultrasonography showed reduced thyroid volume in 7 group A cases, and structural changes in 21 patients (17 group A, 4 group B); 9 L-thyroxine-treated patients were confirmed hypothyroid after having stopped therapy. A thyroid nodule was detected in two cases (one from each group). In conclusion, our data indicate that thyroid injury may be diminished by the use of hyperfractionation and low-junction radiotherapy in the treatment of medulloblastoma.

Adolescent↗

Macrocephaly-Cutis marmorata telangiectatica congenita without cutis marmorata?

We report on two patients with clinical manifestations consistent with a diagnosis of macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC). Both showed macrocephaly with high forehead, overgrowth, capillary hemangiomata involving philtrum, nose, and lips, and redundant skin. In addition, the first had cutis marmorata and joint laxity. The second had postaxial polydactyly of hands and feet, cutaneous syndactyly of third and fourth right fingers and of second and third right toes without evident cutis marmorata. A magnetic resonance imaging scan showed cerebral alterations in both patients. The first had bilateral cortical dysplasia with frontal bilateral myelinization defect of corona radiata. The second had mild intertonsillar widening, cavum septi pellucidi, small porencephalic areas in the anterolateral region of cellae, and subsequently developed a nonobstructive hydrocephalus. Reviewing all reported cases we propose a new criterion for M-CMTC diagnosis.

Abnormalities, Multiple↗

Chiari type I anomalies in children and adolescents: minimally invasive management in a series of 53 cases.

The authors studied the role of the sole posterior fossa bony decompression in the management of symptomatic children affected by Chiari type I anomalies. The series in the pediatric literature of this subject were reviewed and compared with that presented in this article. From May 1994 to December 1998, 53 patients (3 months to 26 years) were observed. They were divided into: asymptomatic patients (27), who received no surgical treatment and were only subject to clinical observation; symptomatic patients (brain stem compression 16, syringomyelia 10, including 7 with holocord). All the symptomatic patients were treated with the same surgical approach: bony decompression of posterior fossa with removal of the posterior arch of C-1 and the outer layer of the dura without dural opening. In all 16 (100%) of the 16 patients with brain stem compression the symptoms resolved or improved; in patients with syringomyelia the symptoms were resolved or improved in 94.4% of cases. Two children required further surgery after 13 and 24 months, respectively. This series seems to demonstrate that even a simple extradural surgical approach, with a lower rate of postoperative complications and short stay in hospital, is sufficient to arrest the disease and to improve the symptomatology in a high percentage of cases (97.2%), which is comparable to that achieved with other, more aggressive, procedures.

Adolescent↗

A patient with early puberty associated with Chiari 1 malformation.

A boy is described with early puberty and Chiari 1 malformation. It is not known whether there was an etiological relationship between these two conditions, or whether they were coincidental. This report emphasizes the utility of MRI when early puberty is diagnosed, particularly in males.

Arnold-Chiari Malformation↗

Long first metacarpal in monozygotic twins with probable Baller-Gerold syndrome.

We report on a pair of monozygotic twins with probable Baller-Gerold syndrome (BGS). Twin A had severe coronal craniosynostosis. Twin B had right radioulnar and ipsilateral first metacarpal hypoplasia. Both had bilateral fifth finger clinodactyly. Assuming that the twins were truly monozygotic, a single genetic disorder (i.e., BGS) could explain the variable expression. Together the twins have the typical anomalies of BGS. The diagnosis was supported by the metacarpophalangeal profile (MPP) which confirmed hypoplasia of the first right metacarpal in Twin A and bilateral fifth finger brachymesophalangy in both twins. Furthermore, the MPP showed an unexpected abnormal lengthening of the first metacarpal (unilateral in Twin A and bilateral in Twin B), a previously undetected radial ray defect in BGS. These findings suggest the possibility that the MPP may assist recognition of mild cases of BGS such as those with apparently isolated craniosynostosis or isolated upper limbs defects.

Adult↗

Ocular findings in children operated on for plagiocephaly and trigonocephaly.

Clinical examination of patients affected by plagiocephaly or trigonocephaly reveals evident malformation of the orbits, and the ocular repercussions are pronounced when children are operated on at an advanced age. Since it is generally accepted that binocular vision is fully developed by approximately 6 months of age, a late correction of plagiocephalic or trigonocephalic skull deformities may be an obstacle to the development of normal visual function. For the present report we investigated astigmatism and strabismus in 53 children, 39 of whom were operated on for plagiocephaly and 14 for trigonocephaly. Traction on the ocular globe induced by the bony deformation caused by the craniosynostosis may explain astigmatism and strabismus.

Astigmatism↗

[Arachnoid cysts of the middle cranial fossa in children. A review of 75 cases, 47 of which have been operated in a comparative study between membranectomy with opening of cisterns and cystoperitoneal shunt].

The authors report their experience concerning 75 cases of middle fossa arachnoid cysts observed in children during the period 1975-1993, 47 of which (62.6%) were operated upon. The aim of this study was to study the clinical presentation of these cysts, to discuss the surgical indications and to compare the results of the various techniques used to treat these malformations. Head injury was revealing in 17 cases (22.6%) and among these, 12 patients presented intracranial complications (subdural effusions; 6 cases, subdural hematomas: 4 cases and intracystic hematomas: 2 cases). The most usual signs and symptoms were: intracranial hypertension (25.3%), epilepsy (16%) and temporal bulging (24%). Twenty-one patients (44.7%) underwent a cystoperitoneal shunt; 20 patients (42.5%) were treated by membranectomy with opening of the basal cisterns and removal of intracystic (2 cases) or subdural hematoma (4 cases); 2 patients (4.3%) were treated using membranectomy, opening of the cisterns and cystoperitoneal shunt and 4 patients (8.4%) underwent a subduroperitoneal shunt. The long-term results were good regardless of the surgical procedure; nevertheless, only one patient among 20 cases treated by membranectomy and opening of the cisterns developped complications (5%), while multiple shunt revisions were necessary in 11 children (40.7%) out of 27 where a shunt was inserted. The authors conclude that membranectomy and opening of the basal cisterns is the procedure of choice to treat middle fossa arachnoid cysts in children.

Adolescent↗

Supratentorial interhemispheric cysts associated with callosal agenesis: surgical treatment and outcome in 16 children.

Cerebrospinal-fluid-filled interhemispheric cysts associated with callosal agenesis are relatively rare lesions, and have been subject to a varied and confusing terminology. From a pragmatic surgical point of view, we believe that the dorsal III ventricular cyst [35] and the giant interhemispheric cyst [23], although of different embryological origin, can be classified as one group. The most important condition that must be distinguished from interhemispheric cysts is the alobar form of holoprosencephaly. We describe the clinical symptomatology in 16 children who were surgically treated with a cysto-peritoneal shunt. The outcome, both neurologically and developmentally, was good in the large majority of cases, and compared favorably to similar cases in the older literature. It therefore seems reasonable, at the present state of knowledge and until further studies clarify the origin and natural history of these cysts, to treat them as early as possible in order to prevent gross developmental deficits.

Agenesis of Corpus Callosum↗

Ocular findings in trigonocephaly.

BACKGROUND: Trigonocephaly, caused by premature closure of the metopic suture, is a rare form of craniosynostosis. The aim of this study was to assess the visual outcome in children operated on for trigonocephaly. METHODS: We present eight cases of children with trigonocephaly surgically corrected by the same craniofacial technique. CT with 3D reconstruction was performed in all cases. Genitori defined three types of trigonocephaly according to the severity of the deformity of the skull base only types II and III were included in this study directed at evaluation of the ocular disorder. A complete eye examination was performed on all children by the same observer, with a follow-up of 2-6 years. RESULTS: 3D-CT reconstruction of the skull base showed that the frontozygomatic region was affected by the deformation. Ocular examination showed considerable astigmatism in most children with late operation. A low degree of strabismus was observed in most children. CONCLUSION: This study demonstrated that reconstructive surgery should be performed by the age of 6 months, given the immaturity of the visual system up to that time. Close cooperation between neurosurgeons, pediatricians and ophthalmologists is of paramount importance in order to prevent this bone deformation exerting an adverse effect on visual development. The ophthalmologist must possess a basic understanding of the various craniosynostoses.

Astigmatism↗

Refractive error and ocular motility in plagiocephaly.

Plagiocephaly, which is caused by premature closure of one of the coronal sutures, leads to fronto-orbital asymmetry. The aim of this work was to study the repercussions of orbital deformation on the visual system. Twenty-one patients presenting with plagiocephaly at birth and operated on by the same craniofacial technique (bilateral approach with translation and advancement of the entire involved orbits) were included in the study. All of the patients were examined by clinical anthropometry with three-dimensional reconstruction and underwent complete eye examination by the same observer. Follow-up after craniofacial surgery ranged from 15 months to 4 years. In the last few years, three-dimensional reconstruction has shown that the anatomic region affected by the deformation is the frontozygomatic region and has thus made it possible to advance to another theory on the origins of ocular problems. The severe effect of orbital anomalies on the development of the visual system (binocular vision, strabismus with amblyopia, refractive errors) has been emphasized in the literature. The present study shows that the scheduling of reconstructive surgery is fundamental and must not exceed 6 months, given the immaturity of the visual system up until this time. This means that the ophthalmologist must be able to recognize the various craniostenoses in order to schedule reconstructive surgery as soon as possible. Cooperation between the neurosurgeon and the ophthalmologist is of paramount importance if the pathogenic effects of this bone deformation are to be stopped and proper visual development preserved.

Astigmatism↗

The skull base in plagiocephaly.

Between 1975 and 1992, 426 children with craniofacial malformations were treated in the Department of Pediatric Neurosurgery at the Hôpital des Enfants de la Timone in Marseille. Plagiocephaly was present in 71 (16.6%). The authors present a reproducible analysis of the skull base in plagiocephaly based on these 71 patients. A control group of Mediterranean children (n = 20) was used for comparison. Clinical anthropometric patterns were analyzed in all cases. Comparison with the control group showed a difference only in the nasion-lambda distance. Data obtained from clinical anthropometry were compared for the involved and the uninvolved sides. A three-dimensional reconstruction was possible in 20 cases. The statistical correlation between the basal angles (nasion-pterional, nasion-petrosal, nasion-clino-basion, and zygomatic angles) of the involved and uninvolved sides allows a new nosographic identification of this complex malformation.

Cephalometry↗

Detection of i(17q) chromosome by fluorescent in situ hybridization (FISH) with interphase nuclei in medulloblastoma.

Medulloblastomas are the most frequent primitive neurectodermal tumors in children. An isochromosome for the long arm of 17, i(17q), is found in 30% of medulloblastomas. For some authors, this abnormality is observed in cases with a shorter survival time. In our cytogenetic studies of 30 medulloblastomas, we observed i(17q) in only three cases, a monosomy 17 in two cases, a monosomy 22 in four cases, nonspecific numerical or structural abnormalities in five cases, and normal karyotypes in 12 cases. We compared the results of karyotypic analysis after culture and FISH with a chromosome 17 alpha satellite DNA probe on interphase nuclei in five cases of medulloblastoma. In one case, i(17q) was only observed in four cells in karyotypic analysis, in three cases a normal karyotype was found, and in one case karyotypic analysis was impossible. In all of these cases, i(17q) was observed in a great number of nuclei by FISH on interphase nuclei. Our study shows that the FISH on interphase nuclei permitted us to observe i(17q) in the cases where it was not or could not be completely detected by karyotypic analysis. The association of these two techniques is required to detect i(17q), an abnormality whose prognosis value in medulloblastomas is now recognized.

Adolescent↗