Role of sodium fluorescein in pediatric low-grade glioma surgery: an update.

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.

Technical evolution of pediatric neurosurgery: craniosynostosis from 1972 to 2023 and beyond.

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.

Focus session on sodium fluorescein in pediatric oncological neurosurgery.

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.

Pineal cysts in children: a paediatric series treated over the last twenty years in Lyon.

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.

Sodium fluorescein in pediatric oncological neurosurgery: a pilot study on 50 children.

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.

Sodium fluorescein in pediatric neurosurgery: a systematic review with technical considerations and future perspectives.

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.

Results of the treatment of pineal tumors in children: the Lyon experience.

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.

The sub-occipital transtentorial approach for pineal region tumors: how I do it.

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.

Diagnosis and treatment of Chiari malformation type 1 in children: the International Consensus Document.

BACKGROUND: Chiari malformation type 1 (CM1) is a rare condition where agreed classification and treatment are still missing. The goal of this study is to achieve a consensus on the diagnosis and treatment of CM1 in children. METHODS: A multidisciplinary panel formulated 57 provisional statements based on a review of the literature. Thirty-four international experts (IE) participated in a Delphi study by independently rating each statement on a 4-point Likert scale ("strongly disagree," "disagree," "agree," "strongly agree"). Statements that were endorsed ("agree" or "strongly agree") by < 75% of raters were re-formulated, or new statements were added, and another Delphi round followed (up to a maximum of three). RESULTS: Thirty-five IE were contacted and 34 agreed to participate. A consensus was reached on 30/57 statements (52.6%) after round 1. Three statements were added, and one removed. After round 2, agreement was reached on 56/59 statements (94.9%). Finally, after round 3, which took place during the 2019 Chiari Consensus Conference (Milan, Italy), agreement was reached on 58/59 statements (98.3%) about four main sections (Definition and Classification, Planning, Surgery, Isolated Syringomyelia). Only one statement did not gain a consensus, which is the "definition of radiological failure 24 month post-surgery." CONCLUSIONS: The consensus document consists of 58 statements (24 on diagnosis, 34 on treatment), serving clinicians and researchers following children with CM1. There is a clear need for establishing an international network and registry and to promote collaborative studies to increase the evidence base and optimize the long-term care of this patient population.

The role of the pediatric neurosurgeon in abusive head injuries: a survey of members of the International Society for Pediatric Neurosurgery.

BACKGROUND AND PURPOSE: Pediatric neurosurgeons are at the forefront of the clinical management of abusive head injuries (AHI) all over the world. However, the discrepancies regarding medical practice and legal requirements in different centers have not been assessed before. MATERIAL AND METHODS: We decided to perform an online survey among members of the International Society for Pediatric Neurosurgery (ISPN) regarding their activity, their usual clinical practice regarding the medical and legal management of AHI, and their involvement in judiciary proceedings, research, and prevention campaigns. RESULTS: Ninety members of the ISPN participated in the survey, representing 26% of the registered members. Most responders were senior pediatric neurosurgeons practicing in a university hospital. Their responses show great homogeneity regarding surgical, intensive care, and legal management. We also noted the widespread use of invasive intracranial pressure monitoring and decompressive craniotomy. By contrast, the responses show great disparity regarding the circuit of patients. This disparity may be an obstacle to the collection of data and clinical research, as well as for the involvement of neurosurgeons in multidisciplinary evaluation. A minority of neurosurgeons were engaged in research and actions of prevention. CONCLUSION: Pediatric neurosurgeons play a pivotal role in the diagnosis and medical management of AHI. Because of their proficiency in head trauma and cerebrospinal fluid disorders, it is desirable that they become more implicated in multidisciplinary meetings, medical expertise, and scientific research, as well as actions of prevention.

Abusive head injuries in infants: from founders to denialism and beyond.

INTRODUCTION: Abusive head injuries is a major cause of severe morbidity and the main cause of mortality by head trauma in infants. MATERIAL AND METHODS: Based on published data and their own clinical and medicolegal practice, the authors review briefly the historical roots and emergence of the concept of abusive head injuries (AHI), until the present scientific understanding of shaken baby syndrome (SBS) and Silverman syndrome. They then discuss the present epidemic of denialism and how this challenge to science should be seen as a stimulus to increase research and improve the accuracy of diagnosis and medical practice. RESULTS: The denial of SBS is especially damaging because it undermines the possibilities of prevention and reparation for victims. The authors expand on AHI being part of a wider context of domestic violence and the prevention of child abuse being part of a broad and long-term endeavor to defend civilization values. CONCLUSIONS: Prevention of AHI is a major challenge for the future. In the fields of science and prevention of child abuse, the input of pediatric neurosurgeons should not be underestimated.

Protocol for the multicentre prospective paediatric craniectomy and cranioplasty registry (pedCCR) under the auspices of the European Society for Paediatric Neurosurgery (ESPN).

PURPOSE: In the paediatric age group, the overall degree of evidence regarding decompressive craniectomy (DC) and cranioplasty is low, whereas in adults, randomised controlled trials and prospective multicentre registries are available. To improve the evidence-based treatment of children, a consensus was reached to establish a prospective registry under the auspices of the European Society for Pediatric Neurosurgery (ESPN). METHODS: This international multicentre prospective registry is aimed at collecting information on the indication, timing, technique and outcome of DC and cranioplasty in children. The registry will enrol patients ≤ 16 years of age at the time of surgery, irrespective of the underlying medical condition. The study design comprises four obligatory entry points as a core dataset, with an unlimited number of further follow-up entry points to allow documentation until adolescence or adulthood. Study centres should commit to complete data entry and long-term follow-up. RESULTS: Data collection will be performed via a web-based portal (homepage: www.pedccr.com ) in a central anonymised database after local ethics board approval. An ESPN steering committee will monitor the project's progress, coordinate analyses of data and presentation of results at conferences and in publications on behalf of the study group. CONCLUSION: The registry aims to define predictors for optimal medical care and patient-centred treatment outcomes. The ultimate goal of the registry is to generate results that are so relevant to be directly transferred into clinical practice to enhance treatment protocols.

New insights in craniovertebral junction MR changes leading to stenosis in children with achondroplasia.

PURPOSE: To characterize natural history and early changes of craniovertebral junction stenosis in achondroplasia correlating with clinical and radiological outcome. METHODS: Retrospective measures on craniovertebral junction were performed blindly, on sagittal T2-weighted images, in 21 patients with achondroplasia referred from 2008 to 2020. Clinical and polysomnography data were retrospectively collected. Each patient was paired for age and gender with four controls. Wilcoxon means comparison or Student's t-tests were applied. RESULTS: Twenty-one patients (11 females, from 0.1 to 39 years of age) were analyzed and paired with 84 controls. A craniovertebral junction stenosis was found in 11/21 patients (52.4%), all before the age of 2 years. Despite a significant reduction of the foramen magnum diameter (mean ± SD: patients 13.6 ± 6.2 mm, controls 28.5 ± 4.7 mm, p < .001), craniovertebral junction stenosis resulted from the narrowing of C2 dens-opisthion antero-posterior diameter (8.7 ± 3.9 mm vs 24.6 ± 5.1 mm, p < .001). Other significant changes were opisthion anterior placement (-0.4 ± 2.8 mm vs 9.4 ± 2.3 mm, p < .001), posterior tilt of C2 (46.2 ± 13.7° vs 31.6 ± 7.9°, p < .001) and of C1 (15.1 ± 4.3° vs 11.9 ± 5.0°, p = 0.01), and dens thickening (9.4 ± 2.2 mm vs 8.5 ± 2.1 mm, p = 0.03), allowing to define three distinguishable early craniovertebral junction patterns in achondroplasia. All children with C2-opisthion antero-posterior diameter of more than 6 mm had a better clinical and radiological outcome. CONCLUSION: Craniovertebral junction in achondroplasia results from narrowing between C2 dens and opisthion related to anterior placement of opisthion, thickening of C2 dens, and posterior tilt of C1-C2. A threshold of 6 mm for dens-opisthion sagittal diameter seems to correlate with clinical and radiological outcome.

Non-accidental head injury of infants: legal implications for the pediatric neurosurgeon.

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.

Imaging patterns in pediatric hypophosphatasia.

Hypophosphatasia is a rare genetic disorder of calcium and phosphate metabolism due to ALPL gene mutations, which leads to abnormal mineralization of the bones and teeth. Hypophosphatasia is characterized by low serum alkaline phosphatase activity and a number of clinical signs, including failure to thrive, bone pain and dental issues. The diagnosis is suspected based on clinical, laboratory and imaging findings and confirmed by genetic testing. Diagnosis in children is often delayed due to a lack of disease awareness, despite specific imaging findings that are a cornerstone of the diagnosis. The recent approval of enzyme replacement therapy (bone-targeted recombinant tissue nonspecific alkaline phosphatase) has given imaging an important role in monitoring treatment efficacy. The aim of this pictorial essay is to review the imaging features of hypophosphatasia at diagnosis and during follow-up, including whole-body magnetic resonance imaging patterns.

Introduction to the focus session on posterior vault surgery in craniosynostosis.

Posterior cranial vault remodeling is a surgical procedure that is currently utilized in all craniofacial centers. It has a dual aim: a cosmetic and a functional one to correct the posterior flattening of the head and creating space for the underlying brain to develop. With the increasing use of the procedure in the last years, numerous variants of the technique have been developed, new different hardware have been introduced (distractors and springs), and new potential functional advantages are discussed, namely, those related to the cerebrovascular circulation and the cerebrospinal fluid movements. This focus session has been then proposed and organized to provide the state of art concerning the indications of posterior cranial vault remodeling operations and the analysis of the technical variants that characterize the use of the procedure in various pediatric neurosurgical centers throughout the world.

Fixed posterior cranial vault expansion technique.

BACKGROUND: Different techniques to reshape the posterior skull vault have been developed in the last decades, all sharing the same goals of increasing the skull volume, decreasing the intracranial pressure (ICP), correcting the cranial dysmorphy, and contributing to a better growth of the skull. Though over the last years most refinements in these techniques have focused on the use of hardware as distractors or springs, the fixed posterior vault expansion remains a valuable procedure for cranial remodeling. METHODS: We describe in details the technique used for fixed posterior vault expansion in children that is applied at the French Referral center for Craniosynostosis of Lyon, France. DISCUSSION: The fixed posterior vault expansion increases the risk of perioperative complications due to the elevation of the posterior bone flap from the dura but allows an immediate decompression and correction of the shape, simplifying the postoperative course.

CSF shunting in myelomeningocele-related hydrocephalus and the role of prenatal imaging.

OBJECTIVE: Hydrocephalus is commonly associated with myelomeningocele (MMC). Indication and timing of cerebrospinal fluid (CSF) shunting are still a topic of discussion. The aim of this study was to investigate whether the analysis of prenatal cerebral imaging studies could provide information that is predictive of the necessity of CSF shunting in the postnatal period. MATERIAL AND METHODS: Among 73 infants operated on because of MMC between January 2003 and June 2020, 50 had undergone prenatal and postnatal MRI studies and were considered for analysis. For each patient, frontal horn width, atrial ventricle diameter, third ventricle diameter, and subarachnoid spaces (sinocortical width, craniocortical width, and the interhemispheric width) have been measured on prenatal, postnatal, and a follow-up MRI study. The need of CSF shunting device placement in relation to prenatal and early postnatal MRI data was investigated. RESULTS: Of the 50 infants, 31 (62%) developed a progressive hydrocephalus. Of these, 30 needed a CSF shunt and the majority of them (n=29) was operated on within 28 days after birth. One patient needed CSF shunt implantation at 45 days after birth and one child developed a late progressive hydrocephalus, successfully treated by ETV alone, at 14.2 months of age. All patients with an atrial ventricle diameter greater than 1.9 cm and a 3rd ventricle diameter larger than 0.3 cm on antenatal third trimester imaging have undergone CSF shunting within 1 month after birth. Conversely, all the children that did not undergo a CSF shunt placement showed an atrial cerebral ventricle diameter inferior to 1.2 cm and a 3rd ventricle width < 0.3 cm on antenatal imaging. Frontal horn width and subarachnoid CSF spaces' evolution did not seem to play a role. CONCLUSION: The prenatal MRI assessment of the associated prenatal ventriculomegaly in MMC provides parameters that have a predictive value heralding the probability of a CSF diversion procedure after birth. In the same way, the analysis of intrauterine MRI studies may identify those subjects that are less at risk of developing a progressive hydrocephalus after birth, therefore encouraging a more cautious attitude towards the early implantation of CSF shunting devices in the current clinical practice.

Sensenbrenner syndrome: a further challenge in evaluating sagittal synostosis and a need for a multidisciplinary approach.

BACKGROUND: Sensenbrenner syndrome, also known as cranioectodermal dysplasia (CED), is a genetically heterogeneous ciliopathy, characterized by dysmorphic features including dolichocephaly (with inconstant sagittal craniosynostosis), chronic kidney disease (CKD), hepatic fibrosis, retinitis pigmentosa, and brain abnormalities, with a partial clinical overlap with other ciliopathies. PATIENTS AND METHODS: A retrospective review of four children with Sensenbrenner syndrome treated at the Femme Mère Enfant University Hospital of Lyon from 2005 to 2020 was conducted. RESULTS: Variants in WDR35 or WDR19 were found in all children. Two of them underwent surgery for a scaphocephaly in the first months of life. All patients developed CKD leading to end-stage renal disease during the first/second decades. DISCUSSION: The diagnosis of scaphocephaly may precede the diagnosis of the underlying Sensenbrenner syndrome, thus highlighting the importance of a systematic multidisciplinary assessment and follow-up for craniosynostoses, in order to identify syndromic forms requiring specific management. In Sensenbrenner syndrome, patients' management should be coordinated by multidisciplinary teams of reference centers for rare diseases, with expertise in the management of craniofacial malformations as well as rare skeletal and renal disorders. Indeed, a prompt etiological diagnosis will result in an early diagnosis of multisystemic complications, notably renal involvement, thus improving global prognosis.

Superiority of thoracolumbar injury classification and severity score (TLICS) over AOSpine thoracolumbar spine injury classification for the surgical management decision of traumatic spine injury in the pediatric population.

PURPOSE: Thoracolumbar fractures are the most common kind of spine injury in children. Several types of spine injury can occur, and for this reason, treatment algorithms have been put in place for the management of these patients. At present, the thoracolumbar injury classification and severity score system (TLICS) and the thoracolumbar AOSpine injury score (AOSpine score) aimed at providing treatment recommendations. We aimed to assess the reliability, in children, of the TLICS scoring and AOSpine scoring systems, and to define the superiority of one of the methods of scoring, to spread its use in routine clinical management in the pediatric spine trauma. METHODS: A retrospective chart review of consecutive children admitted to a Level 1 trauma center for traumatic thoracolumbar fractures, between 2006 and 2019, was performed. We compared the management we performed in clinical practice in children with spine trauma, to the decisional algorithms based on the TLICS and AOSpine scores. According to these scores, surgical treatment should be performed when the TLICS score ≥ 5 and the AOSpine score > 5; and surgical or conservative treatment was considered reasonable when the TLICS score = 4 and the AOSpine score = 4 or 5. Surgical indications were based on the clinical status, the anatomy of the fracture, and the risk of sagittal imbalance of the growing spine. RESULTS: Fifty-four patients met the inclusion criteria. We demonstrated that both the AOSpine score and the TLICS scores had a significant correlation for surgical management decision of spine trauma (p < 0.0001). We found a high concordance between surgical decision making in the pediatric clinical practice and the TLICS score. In our pediatric cohort, there were significantly more patients with TLICS ≥ 5 (n = 47, 87%) than with AOSpine score > 5 (n = 26, 46%, p < 0.0001). There were significantly more patients with TLICS ≥ 4 (n = 53, 98%), than with AOSpine score ≥ 4 (n = 42, 77%, p = 0.001). ConclusionsThe TLICS score was significantly more appropriate than the AOSpine score, for the surgical treatment decision in children, especially when considering the future risk of sagittal imbalance.