Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 172
Filter
1.
Neurochirurgie ; 70(6): 101586, 2024 Sep 14.
Article in English | MEDLINE | ID: mdl-39278164

ABSTRACT

BACKGROUND: The microscope has been the gold standard in neurosurgical practice due to its ability to magnify anatomical structures. However, it has limitations, including restricted visual fields and ergonomic challenges that can lead to surgeon fatigue and musculoskeletal issues. The exoscope is an emerging technology that may address these limitations by offering comparable magnification with improved ergonomics. METHODS: This study compares the traditional microscope (KINEVO 900) with a 3D digital exoscope (Aeos Digital Microscope) in visual field width, image sharpness, and ergonomic impact. Visual field assessments were conducted using millimeter paper at a fixed distance, while image sharpness was evaluated using graph paper with pins at different depths. Ergonomic evaluation involved simulating surgical positions using a spine anatomical model. The practical applicability was tested during Selective Dorsal Rhizotomy (SDR) procedures, comparing the surgeon's experience with both devices over 20 consecutive cases. RESULTS: The exoscope provided a larger visual field (81.18 cm2) compared to the microscope's (54.10 cm2). Image sharpness was similar for both devices across various depths and zoom levels. Ergonomically, the exoscope allowed the surgeon to maintain a neutral posture while visualizing extreme angles, unlike the microscope, which required significant upper body movement. In SDR procedures, the exoscope improved surgeon comfort and interaction with the operating team, despite an initial learning curve. CONCLUSIONS: The exoscope presents notable advantages in terms of visual field and ergonomics. The exoscope's ability to facilitate better posture and team communication without compromising image quality makes it an addition to neurosurgical practice, as in SDR.

2.
Article in English | MEDLINE | ID: mdl-39345948

ABSTRACT

Purpose: The etiopathogenesis of coronal nonsyndromic craniosynostosis (cNCS), a congenital condition defined by premature fusion of 1 or both coronal sutures, remains largely unknown. Methods: We conducted the largest genome-wide association study of cNCS followed by replication, fine mapping, and functional validation of the most significant region using zebrafish animal model. Results: Genome-wide association study identified 6 independent genome-wide-significant risk alleles, 4 on chromosome 7q21.3 SEM1-DLX5-DLX6 locus, and their combination conferred over 7-fold increased risk of cNCS. The top variants were replicated in an independent cohort and showed pleiotropic effects on brain and facial morphology and bone mineral density. Fine mapping of 7q21.3 identified a craniofacial transcriptional enhancer (eDlx36) within the linkage region of the top variant (rs4727341; odds ratio [95% confidence interval], 0.48[0.39-0.59]; P = 1.2E-12) that was located in SEM1 intron and enriched in 4 rare risk variants. In zebrafish, the activity of the transfected human eDlx36 enhancer was observed in the frontonasal prominence and calvaria during skull development and was reduced when the 4 rare risk variants were introduced into the sequence. Conclusion: Our findings support a polygenic nature of cNCS risk and functional role of craniofacial enhancers in cNCS susceptibility with potential broader implications for bone health.

3.
Childs Nerv Syst ; 2024 Sep 23.
Article in English | MEDLINE | ID: mdl-39311928

ABSTRACT

INTRODUCTION: Paediatric CSF shunt infection rate remains a well-known complication that is not only responsible of potentially severe sequels for patients but also for economical expenses. In that study, we questioned if it is possible to attain the zero percent rate of infection that should be the goal of every paediatric neurosurgeon. METHODS: We report our series of patients treated with a CSF device from January the first 2016 to December 31 2018. RESULTS: In all 147 patients treated for hydrocephalus, the follow-up was of at least of 2 years from the implantation. Antibiotic-coated tubes were always used with a differential pressure valve system. A total of 172 surgical procedures were performed for 147 patients. In the follow-up time period, 4 patients presented a post-operative infection (2.3%). Two infections appeared early after the surgical procedure one after 24 h and the other after 6 days; the other two infections were diagnosed after 53 days and the other after 66 days. The germs responsible of the infections were a Staphylococcus capitals, an Escherichia coli, a Klebsiella pneumonia, and a Staphylococcus aureus. CONCLUSIONS: Shunts will always be implanted especially in new-borns and for particular aetiologies of hydrocephalus. To reduce the rate of infection, the best thing to do is to adopt adapted protocols. Our low incidence of infection rate for shunts represent a long history to research preventive factors that helped us to improve our results during the time.

4.
Diagnostics (Basel) ; 14(13)2024 Jul 01.
Article in English | MEDLINE | ID: mdl-39001297

ABSTRACT

Positional plagiocephaly is a deformational cranial flattening frequently treated in pediatric neurosurgical practice. Positional maneuvers and orthotic helmet therapy are preferred therapeutic options for moderate-to-severe forms. Treatment response seems to be age-dependent. Nevertheless, predictive data are vague, and cost-efficiency might be a limiting factor for treatment. The purpose of this study was to investigate the early predictive value of sonographic parameters on the efficacy of orthotic helmet therapy through the assessment of changes in skull shape and correlation of the parameters with caliper cephalometry values and with age. A consecutive cohort of 49 patients < 10 months of age, undergoing orthotic helmet therapy for positional plagiocephaly, was recruited prospectively. The authors routinely assessed the patency of the lambdoid sutures by ultrasound and the following additional skull parameters were measured: suture width, adjacent full bone thickness, adjacent cortical bone thickness and occipital angle. Caliper cephalometric values, as well as demographic and clinical data were collected. Retrospective data analysis showed an inverse relation between both cortical and full skull bone thickness and early treatment efficacy, defined by a reduction in the occipital angle. The improvement of sonographic parameters correlated with the development of cranial caliper cephalometry values. In conclusion, the sonographic assessment of skull bone thickness is a safe and cost-effective tool to predict the early efficacy of orthotic helmet therapy in positional plagiocephaly and might, therefore, help the clinician to foresee the potential evolution of the deformity.

5.
Childs Nerv Syst ; 40(9): 2825-2828, 2024 Sep.
Article in English | MEDLINE | ID: mdl-39044040

ABSTRACT

PURPOSE: This study aims to evaluate the effectiveness of the Piezosurgery® device in endoscopic-assisted correction of trigonocephaly. Trigonocephaly is a type of craniosynostosis characterized by a triangular-shaped forehead due to the premature fusion of the metopic suture. Traditional open cranial vault reconstruction, although common, is invasive and poses risks. The study explores a less invasive alternative using ultrasonic microvibrations for bone cutting, potentially reducing soft tissue damage and improving surgical outcomes. METHODS: The Piezosurgery® device was employed in endoscopic trigonocephaly correction surgeries performed on patients under 4 months old at the French Referral Center for Craniosynostosis in Lyon. The technique involves making a small skin incision and performing osteotomies from the anterior fontanel to the glabella. A rigid 0° endoscope provides visibility, and the Piezosurgery® device enables precise bone cutting while preserving the dura mater. Post-surgery, patients were discharged within 3 days and required to wear a remodeling helmet for 6-8 months. RESULTS: The use of Piezosurgery® device allowed precise osteotomies with minimal soft tissue damage. No dura mater injuries occurred in the patient series. The procedure was efficient, with an average duration of 80 min, and blood loss was minimal, reducing the need for blood transfusions. The endoscopic approach facilitated shorter surgical times and reduced postoperative infection risks. Enhanced visibility during surgery, due to cavitation effects, improved the accuracy of bone cuts. The technique demonstrated promising safety and esthetic outcomes, although it incurred higher costs compared to traditional methods. CONCLUSION: Piezosurgery® device provides a safe and effective method for minimally invasive endoscopic correction of trigonocephaly. The device's ability to selectively cut bone while preserving soft tissues offers significant advantages, despite longer surgical times and higher costs. This technique represents a viable alternative to traditional open surgery, promoting better clinical outcomes and reduced recovery times.


Subject(s)
Craniosynostoses , Piezosurgery , Humans , Craniosynostoses/surgery , Infant , Piezosurgery/methods , Piezosurgery/instrumentation , Male , Female , Neuroendoscopy/methods , Neuroendoscopy/instrumentation , Treatment Outcome , Endoscopy/methods
6.
Childs Nerv Syst ; 2024 Apr 25.
Article in English | MEDLINE | ID: mdl-38662222

ABSTRACT

PURPOSE: Complete surgical resection is still the mainstay in the treatment of central nervous system low-grade tumors, eventually resulting curative. The complete surgical removal of these lesions, however, may be difficult in some cases because of their infiltrative nature. Intraoperative adjuncts may be a game changer. Sodium fluorescein (SF) is among the ideal candidates as intraoperative tools to favor the actual recognition of the tumor extension, since it accumulates in areas of altered blood-brain barrier, a typical characteristic of pediatric gliomas, and has a low rate of adverse events. This work proposes an update of previous works about the evaluation of the feasibility and usefulness of a systematic use of SF in a low-grade lesion group of pediatric patients. METHODS: Pediatric patients operated on for a resection or a biopsy of a low-grade glial or glioneuronal lesion (WHO grade I and II) at our Institution between September 2021 and December 2023, with the intraoperative use of sodium fluorescein (SF), were enrolled in the study. We collected pre-operative and postoperative clinical and radiological data, intraoperative findings, and post-operative pathological diagnoses. RESULTS: No adverse events were registered related to the intraoperative use of SF. SF appeared useful for the localization of boundaries of tumors, especially when characterized by a high degree of infiltration or by a deep-seated location, and for the checking of possible tumor remnants at the end of surgery. A good tumor-to-healthy tissue contrast was registered when tumor visualization was in a range between 1 to 2 h and 30 min after SF injection. Possible "false positives" due to intraoperative vascular wall injury and clearance of SF from both tumor and healthy tissue were observed in some cases and still remain open issues. CONCLUSIONS: SF is a feasible and safe intraoperative adjunct tool in the surgical removal of pediatric low-grade tumors. SF may show its usefulness especially in selected cases, such as deep-seated lesions and infiltrating tumors. Its safety profile, user-friendly management, and potential utility in both tumor resections and neuronavigated biopsies favor its wider use in the surgical treatment of pediatric low-grade tumors.

7.
Clin Nucl Med ; 49(5): 381-386, 2024 May 01.
Article in English | MEDLINE | ID: mdl-38498623

ABSTRACT

PURPOSE: MRI is the main imaging modality for pediatric brain tumors, but amino acid PET can provide additional information. Simultaneous PET-MRI acquisition allows to fully assess the tumor and lower the radiation exposure. Although symptomatic posterior fossa tumors are typically resected, the patient management is evolving and will benefit from an improved preoperative tumor characterization. We aimed to explore, in children with newly diagnosed posterior fossa tumor, the complementarity of the information provided by amino acid PET and MRI parameters and the correlation to histopathological results. PATIENTS AND METHODS: Children with a newly diagnosed posterior fossa tumor prospectively underwent a preoperative 11 C-methionine (MET) PET-MRI. Images were assessed visually and semiquantitatively. Using correlation, minimum apparent diffusion coefficient (ADC min ) and contrast enhancement were compared with MET SUV max . The diameter of the enhancing lesions was compared with metabolic tumoral volume. Lesions were classified according to the 2021 World Health Organization (WHO) classification. RESULTS: Ten children were included 4 pilocytic astrocytomas, 2 medulloblastomas, 1 ganglioglioma, 1 central nervous system embryonal tumor, and 1 schwannoma. All lesions showed visually increased MET uptake. A negative moderate correlation was found between ADC min and SUV max values ( r = -0.39). Mean SUV max was 3.8 (range, 3.3-4.2) in WHO grade 4 versus 2.5 (range, 1.7-3.0) in WHO grade 1 lesions. A positive moderate correlation was found between metabolic tumoral volume and diameter values ( r = 0.34). There was no correlation between SUV max and contrast enhancement intensity ( r = -0.15). CONCLUSIONS: Preoperative 11 C-MET PET and MRI could provide complementary information to characterize pediatric infratentorial tumors.


Subject(s)
Brain Neoplasms , Cerebellar Neoplasms , Infratentorial Neoplasms , Medulloblastoma , Child , Humans , Methionine , Fluorodeoxyglucose F18 , Magnetic Resonance Imaging , Positron-Emission Tomography/methods , Diffusion Magnetic Resonance Imaging/methods , Racemethionine , Brain Neoplasms/diagnostic imaging , Amino Acids
8.
Front Pediatr ; 11: 1193474, 2023.
Article in English | MEDLINE | ID: mdl-37936887

ABSTRACT

Introduction: Brainstem tumors represent a challenge. Their management and prognosis vary according to anatomopathological findings and genetic and bio-molecular fingerprints. We present our experience with pediatric brainstem tumors. Material and methods: All patients admitted for a brainstem tumor at the Pediatric Neurosurgical Unit at Hôpital Femme Mère Enfant hospital between January 1997 and December 2019 were considered. Patients data were obtained through a retrospective review of the medical records; follow-up was from the last outpatient consultation. Results: One hundred and twelve patients were included. Eighty-five patients (75.9%) had open surgery or stereotactic biopsy. Thirty-five patients were treated for hydrocephalus. Sixty-six received an adjuvant treatment. Several protocols were adopted according to the SFOP and SIOP during this time period. The overall survival rate was 45% with a median follow-up of five years (range 1-18 year). However, the survival rate was very different between the diffuse intrinsic pontine gliomas (DIPG) and the others tumor types. If we exclude the DIPG (59 patients), of which only 1 was alive at 3 years, the survival rate was 90.6% (only 5 deaths over 53 patients) with a median follow up of 5 years. Conclusions: Our series confirms that benign tumors of the brainstem have a good survival when treated with surgical removal ± adjuvant therapy. Diffuse pontine gliomas continue to have a dismal prognosis. Individualized treatment based on molecular fingerprints may help to select the best adjuvant therapy and hence potentially improve survival.

9.
Childs Nerv Syst ; 39(12): 3467-3474, 2023 Dec.
Article in English | MEDLINE | ID: mdl-37898987

ABSTRACT

BACKGROUND: Pineal cysts are a rare lesion of the pineal gland. Pineal cysts are benign lesions, generally asymptomatic, and are usually an incidental discovery on MRI performed for other problems. The management of pineal cysts in children remains a matter for debate. Here, we report our own retrospective paediatric cases that have been surgically treated and review the paediatric literature on this topic. METHODS: This is a retrospective monocentric study. All patients operated by the senior author (CM) for a benign pineal cyst from 2000 to 2021 were included. All other pineal region cystic lesions were excluded. Medical and surgical data were extracted from the hospital medical database. RESULTS: Twelve patients were included. The clinical symptomatology was characterized by headaches in seven patients, visual troubles in two patients, precocious puberty in one patient, signs of intracranial hypertension in two patients, seizures associated with headache in one patient, and headaches associated with behavioural troubles in another patient. No major post-operative complications were observed in this series. It is to noted that surgery was performed because a suspicion of a true pineal parenchymal tumour has been made. Histopathological study came back with the diagnosis of pineal cyst. CONCLUSIONS: Pineal cyst is rare. If the radiological diagnosis is clear, no surgery is advocated except in cases associated with hydrocephalus and rapid growth. In case of a suspicion of a true pineal parenchymal tumour, a surgery may be needed to confirm the diagnosis. Lastly, we stress that only cystic lesions of the pineal gland itself should be considered as pineal cyst.


Subject(s)
Brain Neoplasms , Central Nervous System Cysts , Cysts , Pineal Gland , Pinealoma , Humans , Child , Pinealoma/diagnostic imaging , Pinealoma/surgery , Cysts/diagnostic imaging , Cysts/surgery , Cysts/complications , Retrospective Studies , Central Nervous System Cysts/diagnostic imaging , Central Nervous System Cysts/surgery , Central Nervous System Cysts/complications , Brain Neoplasms/diagnostic imaging , Brain Neoplasms/surgery , Brain Neoplasms/complications , Magnetic Resonance Imaging/adverse effects , Pineal Gland/diagnostic imaging , Pineal Gland/surgery , Headache/etiology
10.
Acta Neurochir (Wien) ; 165(11): 3461-3465, 2023 11.
Article in English | MEDLINE | ID: mdl-37743435

ABSTRACT

BACKGROUND: Two major approaches exist for the surgical removal of pineal region tumors: the supracebellar infratentorial and the sub-occipital transtentorial. METHODS: We present the Lyon's technique of the sub-occipital transtentorial approach for pineal region tumors and our tricks to avoid complications. The principle is to expose the pineal region under the occipital lobe and not through the interhemispheric fissure. CONCLUSIONS: The sub-occipital transtentorial approach is a direct, extra cerebral, safe, and effective way to access tumors of the pineal region.


Subject(s)
Brain Neoplasms , Pineal Gland , Pinealoma , Humans , Pinealoma/diagnostic imaging , Pinealoma/surgery , Pinealoma/pathology , Brain Neoplasms/diagnostic imaging , Brain Neoplasms/surgery , Brain Neoplasms/pathology , Pineal Gland/surgery , Pineal Gland/pathology , Neurosurgical Procedures/methods , Occipital Lobe/surgery , Occipital Lobe/pathology
12.
Childs Nerv Syst ; 39(10): 2779-2787, 2023 10.
Article in English | MEDLINE | ID: mdl-37584742

ABSTRACT

Very few clinical entities have undergone so many different treatment approaches over such a short period of time as craniosynostosis. Surgical treatments for this condition have ranged from simple linear craniectomies, accounting for the specific role of cranial sutures in assuring the normal growth of the skull, to more complex cranial vault reconstructions, based on the perceived role of the skull base in affecting the growth of the skull. While a great deal of evolution has occurred, there remains controversy regarding the ideal treatment including the best surgical technique, the optimal age for surgery, and the long-term morphological and neurodevelopmental outcomes. The evolution of the surgical management of craniosynostosis in the last 50 years has been affected by several factors. This includes the awareness of needing to operate on affected children during infancy to achieve the best results, the use of multistage operations, the availability of more sophisticated surgical tools, and improved perioperative care. In some forms of craniosynostosis, the operations can be carried out at a very young age with low morbidity, and with the postoperative use of a molding helmet, springs, or distractors, these operations prove to be as effective as traditional larger cranial reconstructions performed in older children. As a consequence, complex surgical operations have become progressively less utilized. A second relevant advance was the more recent advent of a molecular diagnosis, which allowed us to understand the pathogenesis of some associated malformations and neurodevelopmental issues that were observed in some children despite appropriate surgical treatment. Future research should focus on improving the analysis of longer-term outcomes and understanding the natural history of craniofacial conditions, including what issues persist despite optimal surgical correction. Progress in molecular investigations concerning the normal and pathological development of cranial sutures could be a further significant step in the management of craniosynostosis, possibly favoring a "medical" treatment in the near future. Artificial intelligence will likely have a role in establishing the diagnosis with less reliance on radiographic studies and in assisting with surgical planning. Overall, much progress has been made, but there remains much to do.


Subject(s)
Craniosynostoses , Neurosurgery , Humans , Child , Infant , Artificial Intelligence , Craniosynostoses/diagnostic imaging , Craniosynostoses/surgery , Craniosynostoses/pathology , Skull/surgery , Cranial Sutures/diagnostic imaging , Cranial Sutures/surgery , Skull Base/pathology
13.
Childs Nerv Syst ; 39(6): 1449-1450, 2023 06.
Article in English | MEDLINE | ID: mdl-37160434

ABSTRACT

Many tools and techniques have been developed to obtain maximal safe tumoral resection in neurosurgery. Fluorescent dyes, including sodium fluorescein, have become also part of this armamentarium to localize the lesion and its boundaries peroperatively. Considering its alleged safety profile and its ability to diffuse in areas of altered blood-brain barrier, a typical characteristic of a number of both benign and malignant pediatric tumors, sodium fluorescein may appear an ideal candidate as intraoperative adjunct in pediatric neurosurgery. Nevertheless, a definitive role of this dye in children has not been established yet, and the reports on the pediatric population remain scarce. For this reason, we propose focusing on the use of sodium fluorescein in pediatric oncological neurosurgery by collecting articles reporting the result of the application of the technique in the management of intracranial pediatric tumors.


Subject(s)
Brain Neoplasms , Neurosurgery , Child , Humans , Fluorescein , Neurosurgical Procedures , Medical Oncology , Blood-Brain Barrier , Brain Neoplasms/diagnostic imaging , Brain Neoplasms/surgery
14.
Eur J Hum Genet ; 31(6): 621-628, 2023 06.
Article in English | MEDLINE | ID: mdl-36732661

ABSTRACT

In some cases of infants with apparently isolated single-suture synostosis, an underlying variant can be found. We aimed to determine the molecular substratum in isolated sagittal and metopic craniosynostosis. To this end, we included all infants who presented isolated midline synostosis (sagittal or metopic) and had undergone surgery at the craniosynostosis national reference center of Lyon University Hospital. All infants were examined by a multidisciplinary team including neurosurgeons, clinical geneticists and neuropsychologist. Among 101 infants tested, 13 carried a total of 13 variants; that is, 12.9% of the infants carried a variant in genes known to be involved in craniosynostosis. Seven infants carried SMAD6 variants, 2 in FGFR2, 1 in TWIST1, one in FREM1, one in ALX4 and one in TCF12. All variants were detected at the heterozygous level in genes associated with autosomal dominant craniosynostosis. Also, neurodevelopmental testing showed especially delayed acquisition of language in children with than without variants in SMAD6. In conclusion, a high percentage of young children with isolated midline craniosynostosis, especially in isolated trigonocephaly, carried SMAD6 variants. The interpretation of the pathogenicity of the genes must take into account incomplete penetrance, usually observed in craniosynostosis. Our results highlight the interest of molecular analysis in the context of isolated sagittal and/or metopic craniosynostosis to enhance an understanding of the pathophysiology of midline craniosynostosis.


Subject(s)
Craniosynostoses , Child , Infant , Humans , Child, Preschool , Craniosynostoses/diagnosis , Craniosynostoses/genetics
15.
Childs Nerv Syst ; 39(9): 2317-2327, 2023 09.
Article in English | MEDLINE | ID: mdl-36242638

ABSTRACT

INTRODUCTION: Pineal tumors are rare and their incidence is of 1% among all pediatric tumors of the central nervous system. Patient survival depends on the histology, the extension of the surgical removal, and the efficacy of the complementary treatment (chemotherapy and cranio-spinal irradiation), as well as the age of the patient. MATERIALS AND METHODS: In this study, we analyzed 151 pediatric patients treated for pineal tumors from 1997 to 2020 in Lyon, France. All patients were recorded in the French Register of Pineal tumors, which has been centralized and maintained in Lyon since 2010. RESULTS: Our analysis shows that benign tumors have an overall positive prognosis with total surgical removal. Concerning pineal parenchymal tumors, pinealoblastomas have a poor prognosis , especially in children less than three years old. A new pathological classification system allows for a better stratification of patient risk within different groups of patients with pineal tumors. It is also important to note that the identification of DICER 1 syndrome in families with pinealoblastomas warrant further medical investigation. Patients with Germ Cell Tumors have more favorable outcomes, with a global survival rate of 87 % and a pure germinoma survival rate of almost 97%. When analyzing the prognosis of pineal gland gliomas, otherwise known as tectal plate gliomas, pilocytic astrocytomas had a promising prognosis. Otherwise, prognosis of other tectal plate gliomas are related to the grade of malignancy and the efficacy of complementary treatment. Lastly, papillary tumors need a complete removal for the best chance of survival, and Atypical teratoid/ rabdoid tumors (AT/TR) still have a bad prognosis, regardless of surgical resection. CONCLUSIONS: Our results show that, with regards to pediatric pineal region tumors, there are still areas in prognostic indicators that need to be improved. Similarly, these pathologies need to be treated via a multidisciplinary approach to improve a patient's survival rate and their quality of life.


Subject(s)
Brain Neoplasms , Glioma , Pineal Gland , Pinealoma , Humans , Child , Child, Preschool , Pinealoma/therapy , Pinealoma/pathology , Quality of Life , Brain Neoplasms/pathology , Pineal Gland/surgery , Glioma/pathology
16.
Eur J Med Genet ; 66(2): 104678, 2023 Feb.
Article in English | MEDLINE | ID: mdl-36503153

ABSTRACT

BACKGROUND: Subjects with Megalencephaly-Capillary Malformation-Polymicrogyria syndrome (MCAP) can present with a Chiari Malformation Type 1 and resulting alterations in cerebrospinal fluid (CSF) dynamics, which may require surgical treatment. The aim of this paper is to describe the features of children with MCAP who underwent surgical decompression for CM1, and to explore the PIK3CA variant allele frequency (VAF) identified in cerebellar parenchyma and other adjacent structures. METHODS: This study reviewed two cases of children with CM1 and MCAP who underwent surgical decompression treatment. These two cases were part of a national cohort of 12 MCAP patients who had CM1, due to their surgical eligibility. Tissue samples were obtained from the cerebellar tonsils and adjacent anatomical structures during the surgical procedures. Samples were then subsequently analyzed for PIK3CA postzygotic variants. RESULTS: In both cases, alterations in CSF dynamics, specifically hydrocephalus and syringomyelia, were observed and required surgical treatment. PIK3CA targeted sequencing determined the VAF of the postzygotic variant in both cerebellar and adjacent bone/connective tissues. DISCUSSION: The recognition of a CM1 comorbidity in MCAP patients is of paramount importance when considering personalized treatment options, especially because these patients are at higher risk of developing complications during surgical decompression surgery. The variable PIK3CA VAF identified in the different analyzed tissues might help explain the heterogeneous nature and severity of anomalies observed in the volume of the posterior fossa structures in MCAP patients and associated CSF and venous disorders.


Subject(s)
Arnold-Chiari Malformation , Megalencephaly , Child , Humans , Mosaicism , Arnold-Chiari Malformation/genetics , Arnold-Chiari Malformation/surgery , Arnold-Chiari Malformation/complications , Megalencephaly/complications , Class I Phosphatidylinositol 3-Kinases/genetics , Treatment Outcome
17.
Childs Nerv Syst ; 39(6): 1451-1462, 2023 06.
Article in English | MEDLINE | ID: mdl-36459209

ABSTRACT

BACKGROUND: Sodium fluorescein (SF) is routinely used in several centers as a valid intraoperative adjunct in adult oncological neurosurgery. Its use in pediatric neurosurgery is increasing, although its role is not yet well-defined in children. We reviewed the current literature in order to evaluate the use of SF in children with CNS and PNS lesions. METHODS: For this systematic review, we searched PubMed, Scopus, and Embase databases, and forward and backward citations for studies published between database inception and July 31st, 2022. We included any article type or congress abstract adding at least a new case, without restrictions of language or publication status, concerning the use of SF in neurosurgical procedures in patients under 18 years of age. We excluded studies concerning purely vascular cases and cerebrospinal fluid leaks. RESULTS: Of 4094 records identified, 19 articles were eligible and included for further analysis. As per July 31st, 2022, at least 119 patients aged from 11 months to 17.9 years underwent surgery with SF. No serious adverse events were reported. A large variety of tumor types was operated, in most cases resected under the specific YELLOW 560 nm filter after a low-dose SF injection (2-5 mg/kg) at the end of anesthesia induction. SF was reported particularly useful in gangliogliomas and pilocytic astrocytomas. DISCUSSION/CONCLUSION: Given its easy-to-use profile, low cost, and safety, SF seems to be a feasible and valid adjunct in the pediatric population when aiming at individuating a biopsy target or maximizing extent of resection, particularly in some tumor types. Further studies are required to strengthen the evidence on its impact on outcomes.


Subject(s)
Astrocytoma , Brain Neoplasms , Neurosurgery , Adult , Humans , Child , Adolescent , Fluorescein , Neurosurgery/methods , Neurosurgical Procedures/methods , Astrocytoma/surgery , Brain Neoplasms/surgery , Brain Neoplasms/pathology
18.
Childs Nerv Syst ; 39(6): 1473-1484, 2023 06.
Article in English | MEDLINE | ID: mdl-36454309

ABSTRACT

BACKGROUND: Sodium fluorescein (SF) is currently considered a valid intraoperative adjunct in the resection of high-grade brain lesions in adults. Experiences in pediatric groups and in low-grade gliomas and other low-grade lesions are still limited in literature, and subjective evaluation of fluorescence is still a limitation. MATERIAL AND METHODS: This study retrospectively reviewed all patients with brain or spine lesions operated on from September 2021 to July 2022 in the Pediatric Neurosurgery Unit of Hôpital Femme Mère Enfant, Lyon, who had received 5 mg/kg of 10%. Surgery was performed using a YELLOW560 filter at crucial times. At the end of surgery, the first operator completed a questionnaire, including his opinion on whether SF had been useful in tumor resection, recorded as a binary variable. Post hoc, surgical images were reviewed using ImageJ, an open-source Java image processing platform. In order to compare independent discrete variables, we applied the Student's t test, and we applied the Chi-square or Fisher exact test for binary variables. A threshold of p < 0.05 was set for statistical significance. RESULTS: We included 50 pediatric patients (0.2-17.6 years old). Forty/50 lesions showed SF uptake (80%). The differentiation between healthy and affected tissue, thanks to SF, subjectively evaluated by the surgeon, had as objective counterpart the statistically significant higher brightness of green in lesions, registered by the software (p < 0.001). SF overall allowed a good differentiation in 33/50 lesions, and overall utility of SF has been noted in 67% of them. When specifically considering gliomas, overall utility reached 75%. CONCLUSION: SF is a feasible, safe, and useful intraoperative adjunct in pediatric neurosurgery. In particular, it seems to have a promising role in some low-grade infiltrating glial tumors. The subjective evaluation of fluorescence seems to be reliable with respect to image analyses software.


Subject(s)
Brain Neoplasms , Glioma , Neurosurgery , Adult , Humans , Child , Infant , Child, Preschool , Adolescent , Fluorescein , Pilot Projects , Brain Neoplasms/diagnostic imaging , Brain Neoplasms/surgery , Brain Neoplasms/pathology , Retrospective Studies , Glioma/diagnostic imaging , Glioma/surgery , Glioma/pathology
19.
Diagnostics (Basel) ; 12(12)2022 Nov 23.
Article in English | MEDLINE | ID: mdl-36552934

ABSTRACT

Low-grade gliomas are among the most common CNS lesions in pediatrics and surgery is often the first-line treatment. Intraoperative tools have been developed to maximize the results of surgery, and in particular dyes such as sodium fluorescein (SF) have been investigated in high-grade adult lesions. The use of SF in pediatric low-grade gliomas is still unclear. We retrospectively reviewed 22 pediatric CNS low-grade gliomas operated on with SF from September 2021 to October 2022. A total of 86% of lesions showed SF uptake, which was helpful intraoperatively (confirmation of initial localization of the tumor, or identification of tumor remnants) in 74% of them. The intraoperative fluorescence seems associated with gadolinium enhancement at the preoperative MRI. Interestingly, the extemporaneous pathological sampling (EPS) was informative in every case showing SF uptake, whereas in cases without SF uptake, the EPS was non-informative, although the tissue was later confirmed as pathological. These findings highlight the interest of SF for perioperative diagnosis of tumor tissue and may suggest in which cases the differentiation of tumor-healthy tissue could be especially blurred, posing difficulties for the pathologist.

20.
Childs Nerv Syst ; 38(12): 2295-2299, 2022 12.
Article in English | MEDLINE | ID: mdl-36329191

ABSTRACT

BACKGROUND: Though the neurosurgeon's role in non-accidental head injury (NAHT) is the prompt recognition and care of the inflicted injuries, he/she should be aware of the possible legal implications related to this particular neurosurgical condition. MATERIAL AND METHODS: Based on published data and their own clinical and medico-legal practice, the authors review the role of the neurosurgeon in NHAT. RESULTS: Besides the contribution that can be given by the neurosurgeon to a correct differential diagnosis, he/she is likely to be involved in the interpretations of the pathological findings in the case where the judge may request for a medical opinion concerning etiology, circumstances, severity, and consequences. As a member of a multidisciplinary team, usually the neurosurgeon is only requested for information regarding the lesions he was called to recognize and treat. Nevertheless, such information may have a pivotal part in the evaluation process. Consequently, the neurosurgeon should be able to reach a correct differential diagnosis of NAHT among all the events that may share similar clinical and anatomo-pathological characteristics and be aware of the ongoing scientific controversies related to the diagnosis and pathophysiology. CONCLUSIONS: In practical terms, the pediatric neurosurgeon is called to individuate and record all the precise details of the condition to be eventually offered to the judge in case of controversy. Whereas the diagnosis of NAHT should be evoked at the initial phase in order not to leave the child unprotected, all possible alternative hypotheses should be ruled out "beyond reasonable doubt" for the court. The medical file should be maintained in the record carefully and be accessible even after a long time.


Subject(s)
Child Abuse , Craniocerebral Trauma , Female , Child , Humans , Infant , Neurosurgeons , Child Abuse/diagnosis , Diagnosis, Differential , Craniocerebral Trauma/surgery
SELECTION OF CITATIONS
SEARCH DETAIL