Biomedical subjects
Publications and source records attributed to G Lena.
We report two-cases of brain tumors, one childhood medulloblastoma and one adult glioblastoma with an unusual chromosomal abnormality: a t(1;19)(q23;q13). We analyzed these karyotypes using fluorescence in situ hybridization (FISH) and wonder if this chromosomal aberration could represent a particular entity in these brain tumors like t(1;19) in ALL.
Most of the children seen by specialists in neonatalogy, neuropaediatrics or neurosurgery do not have any problems in starting with oral feeding after a period of tube feeding lasting between 15 and 20 days. Children who have been tube fed for a longer period, however, can find it very difficult or even impossible to re-establish oral feeding when they have sufficiently recovered from their underlying problem. To cope with this situation we propose a procedure based on the afferentation or re-afferentation of the oropharyngeal cavity by sensory stimulations and by re-establishment of the biological clock (circadian rhythm) by applying these stimulations during tube feeding at regular hours. In 19 children who showed difficulties oral feeding became possible a short time after such a procedure had been applied. If the principles of swallowing neurophysiology and the biological rhythm are respected, this procedure, which also involves a contribution from the family, leads to quicker oral feeding and shorter stay in hospital.
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.
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.
Due to the current use of magnetic resonance imaging (MRI), angiographic occult vascular malformations (AOVM) located in the brain stem are frequently reported in the last ten years. The term AOVM is ambiguous and controvers. For, most of these lesions presented with MRI pattern of a cavernous angioma, but only few cases received pathological confirmation. In this location, the operative treatment while worthwhile could be hazardous indeed, so a conservative management is more commonly discussed first. However, the potential risk of rebleeding or poor clinical condition sometimes encourage a more aggressive decision. We report our experience in 25 patients (4 children and 21 adults) admitted between 1982 and 1994 with an AOVM located in the brain stem. In 17 patients, the cryptic vascular lesion was removed surgically. A cavernous angioma was strictly confirmed in only 8 cases. Conversely, 8 patients were managed conservatively. In the surgically treated group of patients, 10 improved their neurological deficit postoperatively, 2 patients remained unchanged, 3 patients worsened, and 2 patients died. The final outcome in 14 patients was evaluated after 51 months of mean follow-up (17 to 70 months). In 5 cases (35.7%) the result was excellent (no symptoms), 5 cases had a good result (normal activity with minimal residual disability), and 4 cases (28.5%) remained with severe permanent disability. In the non-surgically treated group of patients, the final outcome was evaluated after a mean follow-up period of 67 months (from 1 to 120 months). One patient experienced a rebleeding and remained severely disabled. Another patient had two bleeding episodes leaving only a minor facial numbness. Four patients were symptom-free, and the last case was lost for follow-up.
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.
We describe a 19-year-old boy who presented with facial dysmorphism, multiple lateral meningoceles, skeletal abnormalities and normal intelligence. Neurofibromatosis and Marfan syndrome were excluded. Electron microscopy of the skin showed non-specific abnormalities suggesting a connective tissue disorder. The features of this boy closely resemble those in a mother and daughter with Lehman syndrome.
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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.
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.
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.
This report describes what the authors believe to be the first reported case of choristoma of the intracranial maxillary nerve. This 12-year-old girl presented with a 5-year history of severe isolated left-sided trigeminal neuralgia. Computerized tomography and magnetic resonance imaging revealed a mass below the anterior portion of the left cavernous sinus, enlarging the foramen rotundum. Total resection was achieved via a pterional extradural approach. Histological examination revealed a choristoma composed of smooth-muscle fibers. The histogenesis of these tumors when they develop in a nerve remains unclear. They may represent abnormal migration or proliferation of neuroectodermal tissue in or close to a peripheral nerve. Total removal of these tumors should be attempted at initial diagnosis.
We report the clinical features and neurosurgical management of a 9-month-old girl with cranioectodermal dysplasia and scaphocephaly. The technique of surgical correction is discussed together with details of the pre-operative investigations. The importance of early referral to an experienced geneticist is emphasized.
Shunt infection remains the foremost problem of shunt implantation after mechanical malfunctions. Diversionary cerebrospinal fluid shunt implantation has a high complication rate, with 5% to 15% of such shunts becoming infected. Of these infections, 70% are diagnosed within 1 month after surgery and more than 90% within 6 months. Shunt infection in the vast majority of cases is therefore a complication of shunt surgery. The authors review their experience with shunt implantation during two time periods. From January, 1978, to December, 1982, 302 children with hydrocephalus underwent 606 operations. Among these children, 47 (15.56%) developed a proven shunt infection, with an incidence of infection per procedure of 7.75%. As a result of this study, a new protocol for shunt procedures involving modifications in the immediate pre-, intra-, and postoperative management of children undergoing shunt implantation was initiated. With this new protocol, 600 children underwent a total of 1197 procedures between January, 1983, and December, 1990. The incidence of shunt infection decreased dramatically, with two infections (0.33%) in 600 patients and a per-procedure rate of 0.17%. The overall annual risk of a shunt infection in the pediatric neurosurgical unit is currently 1.04%.
The authors review their experience of 14 children with syringomyelia and associated Chiari I malformation observed during the last 21 years. Initial symptoms were motor weakness (57%), sensory signs (50%), scoliosis (50%) and bladder dysfunction (21.5%), while signs of admission were pyramidal signs (78.5%) with motor deficit (43%), spinal deformities (64.2%), syringomyelic syndrome (36%) and sensory deficit (21.5%). Four children were investigated with myelography, three with myelography and spinal CT Scan and the last seven cases with MRI. Ten children (71.4%) underwent a decompression of the Chiari malformation with or without drainage of the cyst and shunting of an associated hydrocephalus. Syringo-peritoneal shunts were used in 3 children and laminectomy with syringo-subarachnoid shunt in 1 case. The neurological symptoms improved in 57% of the cases, 2 patients deteriorated and 4 patients were lost to follow-up. The authors discuss the clinical symptomatology, the MRI study, the controversies concerning the treatment and concluded with their attitude concerning this pathology in children.
The association of hydrocephalus and intramedullary spinal-cord tumor with leptomeningeal spread is described in a 20 month-old boy. The pathogenesis of increased intracranial pressure in spinal cord tumor is discussed. Meningeal gliomatosis is rare and is more often observed in the follow-up of cerebral gliomas. It exceptionally occurs in patients without known cerebral or spinal tumor. Such a tumor often occurs in young patients and has a poor prognosis.
We have examined pathological criteria in 16 cases of infratentorial ependymomas of childhood using a conventional histological approach, with immunohistochemistry and silver nucleolar organizer region staining (AgNORs). We have found that some of these criteria are of prognostic value. The following histological features were evaluated in each case: cellular density, cellular or nuclear pleiomorphism, mitosis, focal necrosis, endothelial proliferation and complete loss of differentiation. The expression of the following antigens was also studied: epithelial membrane antigen (EMA), human natural killer (HNK1), glial fibrillary acidic protein (GFAP) and vimentin. Only three histological criteria have been retained as indicative of bad prognosis, i.e., high mitotic index, a large amount of necrosis and complete loss of differentiation. These criteria distinguish ependymomas from anaplastic ependymomas. GFAP was expressed in all tumors while other antigens were more variable. In addition tumors expressing large amounts of GFAP were statistically associated with a better prognosis. Increased vimentin expression associated with a decrease of GFAP immunoreactivity correlated with anaplasia and short survival. EMA was not directly correlated with postoperative survival but may be considered as a further prognostic factor. Finally AgNORs values were not statistically correlated with postoperative survival.
The case of a 14-year-old girl who had severe subarachnoid bleeding as the first manifestation of a benign astrocytic tumor of the lateral aspect of the third ventricle is reported. Tumors that cause bleeding are usually neuroectodermal tumors in children and malignant tumors in adults. A review of the literature serves as the basis for a discussion of the frequency of bleeding as the first manifestation of brain tumors (1 to 10%) and of the pathogenesis of these hemorragies for which three theories (vascular, mechanical, and metabolic) have been put forward.