Publications by authors named "Matthieu Vinchon"

74 Publications

Crouzon syndrome: posterior fossa volume studies in vestibular orientation.

Childs Nerv Syst 2021 Apr 27. Epub 2021 Apr 27.

Department of Plastic Surgery, Lille University Hospital, Lille, France.

Introduction: With the increasing possibilities of surgical treatment addressing the complex spectrum of defects in Crouzon syndrome (CS), it is of utmost importance to obtain accurate assessment of the malformation. Evaluating the volume of the posterior fossa is of great importance since many authors, considering that its volume is always decreased, favor posterior fossa enlargement as a first step in the treatment of CS.

Material And Methods: We studied CT scans of children with CS, which were vestibular-oriented (VO) in order to conform with physiological landmarks, and we measured intracranial volume by manual segmentation; these abnormal CT scans were superposed with VO 3D-CT scanners of age-matched controls. We studied the volume index of the posterior fossa for each CS patient defined as the ratio of its volume in CS patients with the normal for age calculated from normal controls.

Results: We studied the imaging of 41 children with CS and 70 control. Among CS patients, the volume of the posterior fossa was increased in 10, compared with control. We found closure of the sphenoidal synchondrosis was correlated with age and with the width of the posterior fossa, but not with its length nor with the posterior fossa volume index.

Conclusion: Segmentation on VO-CT scanner and superposition with CT scanners of normal controls is a powerful tool for the study of the impact of CS or other synostoses on volume and shape. We found that CS is more heterogeneous than previously thought, and surgical strategies should be adapted accordingly.
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http://dx.doi.org/10.1007/s00381-021-05186-9DOI Listing
April 2021

Morphological and surgical results in sagittal synostosis: early craniectomy versus later cranioplasty.

Childs Nerv Syst 2021 Apr 22. Epub 2021 Apr 22.

Department of Plastic Surgery, Lille University Hospital, Lille, France.

Background And Purpose: Morphological correction is one of the main aims of surgery for sagittal synostosis (SSO). Different surgical techniques have been developed; however, few studies have compared the different surgical protocols. The morphological outcome is poorly documented, because a consensual evaluation tool is lacking.

Material And Methods: We performed a prospective study of children operated for SSO in our institution. Children were operated whenever possible at 4 months for craniectomy; by default, children underwent cranioplasty at or after 9 months. The morphological outcome of all children was evaluated using traditional craniometry with head circumference (HC) and the cephalic index (CI), and with the Rotterdam scaphocephaly morphology score (RSMS), a total of semi-quantitative assessments of morphological hallmarks.

Results: Craniectomy was significantly associated with a shorter operation time and hospital stay, and a better impact on HC and CI measurements, compared with cranioplasty. The RSMS was markedly improved after surgery in both groups; however, we found no significant difference in improvement between the two groups. Although the transfusion rate and the prevalence of developmental delay were lower in the craniectomy group, and reoperations for calvarial lacunae or complex craniosynostosis occurred only this group, these differences were not significant.

Conclusions: Our results support early surgery with craniectomy whenever possible; however, cranioplasty at a later age is a very acceptable by-default indication. In addition to classical craniometry, morphological evaluation using the RSMS or a similar quantitative scale appears highly desirable for future studies.
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http://dx.doi.org/10.1007/s00381-021-05178-9DOI Listing
April 2021

Linear craniectomy for early posterior decompression in craniosynostoses: technique and results.

Childs Nerv Syst 2021 Mar 13. Epub 2021 Mar 13.

Department of Plastic Surgery, Lille University Hospital, Lille, France.

Introduction: Early decompressive posterior linear craniectomy (PLC) can be indicated in very young infants with complex multisuture synostosis, which often involve the lambdoid suture (LS). The literature data on the surgical technique and its results are scarce.

Material And Methods: Based on our experience with PLC during the last 10 years, we detail our surgical technique for PLC, the possible pitfalls, and complication avoidance.

Results: We review seven observations, 5 girls and 2 boys, 6 of these with identified mutations, operated for PLC at a mean age of 3.19 months (6 days to 6.1 months). One patient died of unexplained cardiac arrest on postoperative day two, the others had a favorable outcome with good development and no visual loss. Three of these required additional cranioplasty at a later age, one of these with craniofacial distraction.

Discussion: PLC can be a salvage operation in very young patients with complex synostosis involving the LS, and with proper preparation and careful technique, allows favorable outcome. The approach must be versatile in order to anticipate further surgeries in these complex, most often syndromic cases.
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http://dx.doi.org/10.1007/s00381-021-05117-8DOI Listing
March 2021

Synostosis of the lambdoid suture: a spectrum.

Childs Nerv Syst 2021 Jan 6. Epub 2021 Jan 6.

Department of Plastic Surgery, Lille University Hospital, Lille, France.

Purpose: Lambdoid synostosis (LS) is a rare condition, which is either isolated; associated with sagittal synostosis, the "Mercedes-Benz" syndrome (MBS); or with synostosis of the coronal sutures (oxycephalic form). In addition, LS is part of the phenotype of a growing number of genetic diseases. The nosology, pathophysiology, and management are controversial. We decided to review our experience with LS.

Methods: We reviewed retrospectively pediatric cases of LS proved on CT-scanner, isolated or associated with other conditions, followed in our craniofacial center during the last 15 years, regarding clinical presentation, anatomical lesions, syndromic associations, surgical management, and outcome.

Results: We reviewed 48 cases: 6 isolated LS, 22 MBS, and 20 oxycephalic. A syndromic context was present in 72% (up to 80% of oxycephalic cases), and faciostenosis was present in 23%, mostly oxycephalic cases (40%). Transverse sinus agenesis was found in 61% of documented patients. A total of 31% of children had a dystocic birth, up to 45% of MBS. Decompressive craniectomy or cranioplasty was needed in a majority of patients, often young infants, while posterior fossa decompression was mostly performed in older children.

Conclusion: LS is rarely isolated and non syndromic; most cases are found in a wide spectrum of diseases, and LS is often associated with sagittal or coronal synostosis. Genetic evaluation is mandatory for LS; conversely, geneticists may require neurosurgical advice for LS in an increasing number of very rare diseases. The surgical management of LS should be tailored according to clinical presentation, age, and syndromic context.
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http://dx.doi.org/10.1007/s00381-020-05003-9DOI Listing
January 2021

Fusiform dilatation of internal carotid artery after pterional but not subfrontal craniotomy in 6 patients.

Childs Nerv Syst 2021 Jan 20;37(1):125-129. Epub 2020 Jun 20.

Department of Neurosurgery, Lille University Hospital, rue E. Laine, 59037, Lille, France.

Purpose: Our study aimed to evaluate potential risk factors for the development of FDICA after suprasellar tumor resection.

Materials And Method: After reviewing all cases of pediatric patients who benefited from a suprasellar lesion resection in our two medical institutions, we found 6 patients with a FDICA. Surgical approach strategy (pterional or subfrontal approaches) was noted. Postoperative cranial MRI was performed in each patient 3 months after surgery and every year. When a FDICA occurred, MRI was performed 6 months after the diagnosis and 1 year later to detect any progression.

Results: There were 6 males with a mean age at treatment of 11 years (6 to 15). Pterional approach was performed in these 6 patients. At the 2 institutions, we have done at least 50 pterional craniotomies for suprasellar lesion resection. No FDICA was reported after subfrontal approach in 27 consecutive pediatric patients operated on from a craniopharyngioma. The delay between the surgery and the diagnosis of the FDICA was 9 months (3 to 17 months). No symptoms related to the FDICA were recorded. The mean maximal diameter of the aneurysm was 14 mm (10 to 21). ICA bifurcation was involved in 2 cases. Asymptomatic FDICA progression was noted in 2 cases but no treatment was proposed.

Conclusion: The pathogenesis of FDICA is unclear, and might involve arterial wall necrosis caused by postoperative arachnoid fibrosis which might be worsened by the pterional approach.
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http://dx.doi.org/10.1007/s00381-020-04753-wDOI Listing
January 2021

Identification of prognostic markers in diffuse midline gliomas H3K27M-mutant.

Brain Pathol 2020 01 14;30(1):179-190. Epub 2019 Aug 14.

Institute of Pathology, Centre de Biologie Pathologie, Lille University Hospital, Lille, F-59000, France.

Pediatric diffuse midline gliomas are devastating diseases. Among them, diffuse midline gliomas H3K27M-mutant are associated with worse prognosis. However, recent studies have highlighted significant differences in clinical behavior and biological alterations within this specific subgroup. In this context, simple markers are needed to refine the prognosis of diffuse midline gliomas H3K27M-mutant and guide the clinical management of patients. The aims of this study were (i) to describe the molecular, immunohistochemical and, especially, chromosomal features of a cohort of diffuse midline gliomas and (ii) to focus on H3K27M-mutant tumors to identify new prognostic markers. Patients were retrospectively selected from 2001 to 2017. Tumor samples were analyzed by immunohistochemistry (including H3K27me3, EGFR, c-MET and p53), next-generation sequencing and comparative genomic hybridization array. Forty-nine patients were included in the study. The median age at diagnosis was 9 years, and the median overall survival (OS) was 9.4 months. H3F3A or HIST1H3B mutations were identified in 80% of the samples. Within the H3K27M-mutant tumors, PDGFRA amplification, loss of 17p and a complex chromosomal profile were significantly associated with worse survival. Three prognostic markers were identified in diffuse midline gliomas H3K27M-mutant: PDGFRA amplification, loss of 17p and a complex chromosomal profile. These markers are easy to detect in daily practice and should be considered to refine the prognosis of this entity.
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http://dx.doi.org/10.1111/bpa.12768DOI Listing
January 2020

Surgery for Chiari 1 malformation: the Lille experience.

Authors:
Matthieu Vinchon

Childs Nerv Syst 2019 10 11;35(10):1875-1880. Epub 2019 Jun 11.

Department of Pediatric Neurosurgery, Hôpital Roger Salengro, Lille University Hospital, CHRU de Lille, 5037, Lille Cedex, France.

Purpose: Decision-making in chronic tonsillar herniation (CTH) in children is complicated because many cases are diagnosed incidentally; on the other hand, its clinical impact may be underestimated. Furthermore, its surgical management is controversial.

Methods: In the present review, we tried to design a semi-quantitative approach to diagnosis, defining presenting symptoms as compatible, suggestive, or differential diagnoses. We expose our rationale for surgery. We review our experience with extensive posterior fossa decompression (PFD) with systematic dural opening and low threshold for tonsil resection. The aim is to achieve uncontroversial anatomical decompression.

Results: We operated 117 children during the last 10 years. Seventeen had complications, mostly hydraulic and minor; although most resolved without consequences, one patient died of unexplained cerebral vasospasm. At last control, 97% were clinically improved. No patient required reoperation for PFD.

Conclusion: With proper patient selection, extensive PFD is a very efficient operation.
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http://dx.doi.org/10.1007/s00381-019-04242-9DOI Listing
October 2019

Ependymoma of the Spinal Cord in Children: A Retrospective French Study.

World Neurosurg 2019 Jun 12;126:e1035-e1041. Epub 2019 Mar 12.

Institut d'Hématologie Oncologie Pédiatrique, Centre Leon Bérard and Hospices Civils de Lyon, Lyon, France.

Background: Ependymoma is the most frequent spinal tumor in adults but it is rather uncommon in children. The aim of the present study was to retrospectively summarize the clinical and therapeutic experience in the treatment of pediatric spinal ependymomas in France.

Methods: In the present retrospective multicenter study, data from patients aged <18 years who had been treated from 2000 to 2010 for spinal ependymomas were collected. Epidemiologic and tumor- and treatment-related data were analyzed. The prognostic factors for progression-free survival (PFS) were assessed.

Results: We identified 28 patients (22 males, 6 females). Their median age at surgery was 13.67 years (range, 0.7-17.6). Initial gross total resection (GTR) was achieved in 22 children and subtotal resection (STR) in 6. Histologically, 15 tumors were myxopapillary ependymomas and 11 were grade II and 2 grade III ependymomas. Adjuvant initial radiotherapy (RT) was performed in 6 patients. The median follow-up period was of 40 months (range, 2.3-127.5). The 5-year PFS rate was 51% (95% confidence interval, 26.3%-71.2%), and the overall survival rate was 100%. On univariate analysis, only GTR had a significant influence on PFS (P = 0.0013). A subgroup analysis showed a benefit of RT delivered to patients with GTR; however, RT failed to prevent relapse in the group with initial STR.

Conclusions: Our data suggest that initial adjuvant RT might improve PFS after GTR but will not prevent relapse in patients with STR. Further studies are needed to define more specific treatments for the latter group.
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http://dx.doi.org/10.1016/j.wneu.2019.03.033DOI Listing
June 2019

EWSR1-PATZ1 gene fusion may define a new glioneuronal tumor entity.

Brain Pathol 2019 01 13;29(1):53-62. Epub 2018 Jul 13.

Department of Pathology, IUCT-Oncopole, Toulouse University Hospital, Toulouse, France.

We investigated the challenging diagnostic case of a ventricular cystic glioneuronal tumor with papillary features, by RNA sequencing using the Illumina TruSight RNA Fusion panel. We did not retrieve the SLC44A1-PRKCA fusion gene specific for papillary glioneuronal tumor, but an EWSR1-PATZ1 fusion transcript. RT-PCR followed by Sanger sequencing confirmed the EWSR1-PATZ1 fusion. It matched with canonic EWSR1 fusion oncogene, juxtaposing the entire N-terminal transcriptional activation domain of EWSR1 gene and the C-terminal DNA binding domain of a transcription factor gene, PATZ1. PATZ1 protein belongs to the BTB-ZF (broad-complex, tramtrack and bric-à-brac -zinc finger) family. It directly regulates Pou5f1 and Nanog and is essential to maintaining stemness by inhibiting neural differentiation. EWSR1-PATZ1 fusion is a rare event in tumors: it was only reported in six round cell sarcomas and in three gliomas of three exclusively molecular studies. The first reported glioma was a BRAF negative ganglioglioma, the second a BRAF negative glioneuronal tumor, not otherwise specified and the third, very recently reported, a high grade glioma, not otherwise specified. In our study, forty BRAF negative gangliogliomas were screened by FISH using EWSR1 break-apart probes. We performed methylation profiling for the index case and for seven out of the ten FISH positive cases. The index case clustered apart from other pediatric low grade glioneuronal entities, and specifically from the well-defined ganglioglioma methylation group. An additional pediatric intraventricular ganglioglioma clustered slightly more closely with ganglioglioma, but showed differences from the main ganglioglioma group and similarities with the index case. Both cases harbored copy number variations at the PATZ1 locus. EWSR1-PATZ1 gene fusion might define a new type of glioneuronal tumors, distinct from gangliogliomas.
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http://dx.doi.org/10.1111/bpa.12619DOI Listing
January 2019

Three-dimensional study of 31 cases of synostotic anterior plagiocephaly before and after surgical management the Lille protocol.

J Craniomaxillofac Surg 2018 Jun 28;46(6):958-966. Epub 2018 Mar 28.

CHU Lille, Center for Clefts and Facial Malformations, Plastic Surgery Unit, F-59000, Lille, France.

Synostotic anterior plagiocephaly is a rare pathological cranial malformation. Therapeutic options are rarely studied due to the rarity of the malformation and difficulties in diagnosis and care management. The objective of this study was to analyze the results obtained with the Lille protocol based on 62 CT-scans done before and after surgery in 31 patients. A specific analysis was designed for this work. Nine cephalometric measures enabled to evidence on each CT-Scan the corrections made on the fronto-orbital bandeau and the potential impact of surgery on the craniofacial structures. Results show that surgical symmetry of the fronto-orbital bandeau in the transversal plane, according to the symmetrical axis of the semicircular canals, allows a normalization of the skull's growth and morphogenesis for the surgically affected structures but also adjacent ones.
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http://dx.doi.org/10.1016/j.jcms.2018.03.014DOI Listing
June 2018

Shaken baby syndrome: what certainty do we have?

Authors:
Matthieu Vinchon

Childs Nerv Syst 2017 Oct 6;33(10):1727-1733. Epub 2017 Sep 6.

Department of Pediatric Neurosurgery, University Hospital, Hôpital Roger Salengro, 59037, Lille Cedex, France.

Background: Shaken baby syndrome is a common and devastating disease in infants. In spite of its frequency, many controversies persist, regarding the pathophysiology, diagnosis, and management.

Aim Of The Study: We reviewed several salient and challenging issues related to SBS, like its pathogenesis, predisposing factors, differential diagnosis, and prevention programs.

Material And Methods: We derive arguments from the literature and from our prospective registry of accidental and non-accidental traumas in infants.

Conclusions: Much remains to be understood in SBS, and prevention programs for this entirely man-made disaster are still in their infancy. Pediatric neurosurgeons should be involved actively in the medical management and research on SBS.
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http://dx.doi.org/10.1007/s00381-017-3517-8DOI Listing
October 2017

Decompressive craniectomy and CSF disorders in children.

Childs Nerv Syst 2017 Oct 6;33(10):1751-1757. Epub 2017 Sep 6.

Hôpital Femme Mère Enfant, Hospices Civils de Lyon and Université Claude Bernard Lyon 1, 59 Bd Pinel, 69677, Bron Cedex, France.

Introduction: Decompressive craniectomy (DC) is a lifesaving procedure but is associated to several post-operative complications, namely cerebrospinal fluid (CSF) dynamics impairment. The aim of this multicentric study was to evaluate the incidence of such CSF alterations after DC and review their impact on the overall outcome.

Material And Methods: We performed a retrospective multicentric study to analyze the CSF disorders occurring in children aged from 0 to 17 years who had undergone a DC for traumatic brain injury (TBI) in the major Departments of Pediatric Neurosurgery of France between January 2006 and August 2016.

Results: Out of 150 children, ranging in age between 7 months and 17 years, mean 10.75 years, who underwent a DC for TBI in 10 French pediatric neurosurgical centers. Sixteen (6 males, 10 females) (10.67%) developed CSF disorders following the surgical procedure and required an extrathecal CSF shunting. External ventricular drainage increased the risk of further complications, especially cranioplasty infection (p = 0.008).

Conclusion: CSF disorders affect a minority of children after DC for TBI. They may develop early after the DC but they may develop several months after the cranioplasty (8 months), consequently indicating the necessity of clinical and radiological close follow-up after discharge from the neurosurgical unit. External ventricular drainage and permanent CSF shunt placement increase significantly the risk of cranioplasty infection.
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http://dx.doi.org/10.1007/s00381-017-3542-7DOI Listing
October 2017

Case update on cranial osteopetrosis: which is the role of the neurosurgeon?

Childs Nerv Syst 2017 Dec 31;33(12):2181-2186. Epub 2017 Jul 31.

Departement of Neuro-ophtalmology, Lille University Hospital, Lille, France.

Purpose: Osteopetrosis (OP) is a rare skeletal disease, which can affect the skull base and calvaria. A multidisciplinary approach is mandatory and patient may need neurosurgical care. Few observations have been published, and optimal management of OP is not established yet.

Method: We report a case of an infant with OP diagnosed at 5 months, who presented signs of intracranial hypertension associated with unilateral blindness. Bone marrow allograft was performed at 6 months of age. At neurosurgical first examination at 11 months, the child was hypotonic, with severe amblyopia; features of bicoronal synostosis were appreciated, with tense anterior fontanel bulging indicating synostotic oxycephaly. Head circumference had decreased from +3 SD to +1SD. Cerebral CT scan showed reduction of intracranial volume, inward thickening of the calvaria, bilateral stenosis of optic canal, ventricular dilatation, enlarged arachnoid spaces, and tonsillar herniation. We performed cranial vault expansion with frontal advancement and bi parietal decompression, thinning of the inner table, unroofing of the left orbit and optic canal in order to obtain optic nerve decompression.

Results: Postoperative course was uneventful, and the patient was discharged on day 8. Vision was unchanged but rapid improvement of axial tonus was noted. The CT scan showed satisfactory calvarial expansion with regression of tonsillar herniation.

Conclusions: Neurosurgical evaluation and care are necessary in the context of a multidisciplinary approach to the patient affected by osteopetrosis. Cranial vault remodeling and expansion should be considered in patients with sign of intracranial hypertension. Timing of optic canal decompression is to be defined.
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http://dx.doi.org/10.1007/s00381-017-3553-4DOI Listing
December 2017

Response to Lyn∅e: questions about isolated trauma shaking and confessions.

Authors:
Matthieu Vinchon

Childs Nerv Syst 2017 09 18;33(9):1423-1424. Epub 2017 Jul 18.

Department of Pediatric Neurosurgery, University Hospital, Hôpital Roger Salengro, 59037, Lille Cedex, France.

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http://dx.doi.org/10.1007/s00381-017-3516-9DOI Listing
September 2017

Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1.

Genet Med 2017 09 16;19(9):1013-1021. Epub 2017 Mar 16.

Department of Medical Genetics, Lille University Hospital, CHU Lille, Lille, France.

Purpose: Blepharocheilodontic (BCD) syndrome is a rare autosomal dominant condition characterized by eyelid malformations, cleft lip/palate, and ectodermal dysplasia. The molecular basis of BCD syndrome remains unknown.

Methods: We recruited 11 patients from 8 families and performed exome sequencing for 5 families with de novo BCD syndrome cases and targeted Sanger sequencing in the 3 remaining families.

Results: We identified five CDH1 heterozygous missense mutations and three CTNND1 heterozygous truncating mutations leading to loss-of-function or haploinsufficiency. Establishment of detailed genotype-phenotype correlations was not possible because of the size of the cohort; however, the phenotype seems to appear more severe in case of CDH1 mutations. Functional analysis of CDH1 mutations confirmed their deleterious impact and suggested accelerated E-cadherin degradation.

Conclusion: Mutations in CDH1 encoding the E-cadherin were previously reported in hereditary diffuse gastric cancer as well as in nonsyndromic cleft lip/palate. Mutations in CTNND1 have never been reported before. The encoded protein, p120ctn, prevents E-cadherin endocytosis and stabilizes its localization at the cell surface. Conditional deletion of Cdh1 and Ctnnd1 in various animal models induces features reminiscent of BCD syndrome and underlines critical role of the E-cadherin-p120ctn interaction in eyelid, craniofacial, and tooth development. Our data assert BCD syndrome as a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1 and widen the phenotypic spectrum of E-cadherin anomalies.Genet Med advance online publication 09 March 2017.
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http://dx.doi.org/10.1038/gim.2017.11DOI Listing
September 2017

Infant brain tumours: a tale of two cities.

Childs Nerv Syst 2016 Sep 14;32(9):1633-40. Epub 2016 Jun 14.

Department of Neurosurgery, Park Clinic, 4, Gorky Terrace, Kolkata, 700017, West Bengal, India.

Introduction: Infantile brain tumours (age < 1 year) are increasingly being diagnosed due to advances in prenatal and perinatal diagnostic imaging. We present here our retrospective study of 64 infant brain tumours that brings to the fore the epidemiology, clinical presentation, pathology and outcome of this unique subset of paediatric brain tumours presenting to two tertiary referral centres in Kolkata in India and Lille in France between the years 1999 and 2014.

Methods: Data was retrospectively collected from Kolkata (n = 30) and Lille (n = 34) for patients presenting with infant brain tumours and analysed for factors such as age at presentation, clinical features, gender, location of tumour, pathology, management and outcome. Follow-up was available for all patients.

Results: Mean age at presentation was 6.8 months at Kolkata and 6.3 months at Lille. More than two-thirds of tumours in both the groups were supratentorial and presented with signs of raised intracranial pressure. There was also a similar proportion of tumours presenting as congenital tumours. At Kolkata, germ cell tumours (n = 7) were the most common while low-grade gliomas (n = 11) formed the largest group at Lille. Kolkata had a higher incidence of high-grade gliomas (n = 5) and PNETs (n = 4) while ATRT (n = 3) and choroid plexus carcinoma (n = 4) were more common at Lille. Surgery was the mainstay of treatment at both centres.

Conclusion: Brain tumours in infants presenting to tertiary centres in Europe and India are challenging to manage and usually have dismal prognosis. These tumours differ markedly in the pathology and, therefore, overall outcome. Surgery forms mainstay of treatment. Radiotherapy is best avoided in this age group.
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http://dx.doi.org/10.1007/s00381-016-3135-xDOI Listing
September 2016

Reappearance of arteriovenous malformations after complete resection of ruptured arteriovenous malformations: true recurrence or false-negative early postoperative imaging result?

J Neurosurg 2017 Apr 27;126(4):1088-1093. Epub 2016 May 27.

Departments of 1 Neurosurgery and.

OBJECTIVE Ruptured arteriovenous malformations (AVMs) are often obliterated after emergency microsurgical treatment. However, some studies have reported AVM recurrence after the obliteration of ruptured AVMs. The authors report their experience with AVM recurrence after successful microsurgical treatment of ruptured AVMs. METHODS The authors reviewed the medical data of 139 consecutive patients who underwent microsurgery at the authors' institution for ruptured AVM between 2002 and 2012. Each patient underwent a conventional cerebral angiography examination immediately after the surgery. Subsequent follow-ups were performed with MR angiography after 6 months, and, if there was no indication of AVM recurrence, patients were followed up with conventional cerebral angiography between 1 and 2 years after the treatment; pediatric patients were followed up until age 18 years. Recurrence was defined as new radiological evidence of an AVM at the site of a ruptured AVM or a new hemorrhage in patients with angiographically documented AVM obliteration on postoperative angiograms. RESULTS The mean age of the patients at the time of ruptured AVM diagnosis was 30.8 years (SD ± 5, range 4-69 years), and 44 of the patients were younger than 18 years (the mean age at diagnosis in this pediatric subgroup was 11.4 years [range 4-17.9 years]). Complete AVM obliteration after the initial microsurgery was observed in 123 patients (89.5%). Reappearance of an AVM was noted in 7 patients between 12 and 42 months after the treatment, and all of these patients were younger than 18 years. The recurrent AVM was located in an eloquent zone in 4 patients, and deep venous drainage was noted in 3 patients. Radiosurgery was performed in 6 of these patients, and 1 patient underwent another microsurgical procedure. The authors noted only one rebleeding due to an AVM recurrence during the latency period after radiosurgery. CONCLUSIONS The recurrence of an AVM is fairly rare and affects mostly pediatric patients. Therefore, especially in children, long-term angiographic follow-up is required to detect AVM recurrence or an AVM remnant. The authors stress the need for discussion involving a multidisciplinary neurosurgical team to decide on treatment in cases of any AVM recurrence or remnant.
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http://dx.doi.org/10.3171/2016.3.JNS152846DOI Listing
April 2017

Embryonal tumors with multilayered rosettes in children: the SFCE experience.

Childs Nerv Syst 2016 Feb 5;32(2):299-305. Epub 2015 Oct 5.

Department of Pediatric Hematology-Oncology, APHM, La Timone Hospital, 264 rue Saint-Pierre, 13005, Marseille, France.

Purposes: The purpose of this study was to retrospectively study embryonal tumors with multilayered rosettes (ETMR), a rare new entity that gathers ETAN-TR (embryonal tumor with abundant neuropil and true rosettes), ependymoblastomas, and medulloepitheliomas, in order to improve their descriptions and try to better define therapeutic modalities.

Methods: Patients with ETMR, ETAN-TR, ependymoblastoma, and medulloepithelioma treated in SFCE centres (Société Française de lutte contre les Cancers et les leucémies de l'Enfant et de l'adolescent) since 2000 were collected. Data were retrieved from clinical charts.

Results: Thirty-eight patients were included in the analysis. Seventeen had an ETAN-TR, 13 had a medulloepithelioma, and 8 had an ETMR. No ependymoblastoma was included. The median age at diagnosis was 31 months (range, 2.8-141 months). The predominant tumor location was supratentorial (66%); 18.4% patients had metastatic lesion. LIN28A expression was positive in 11/11 patients. Amplification of the locus 19q13.42 was positive in 10/12 patients. Thirty patients were treated according to the primitive neuroectodermal tumors of high risk (PNET-HR) protocol. The median time of follow-up was 0.9 years (range 0.1 to 15.3 years). The 1-year event-free survival (EFS) and overall survival (OS) were, respectively, 36% CI 95% (23-55) and 45% CI 95% (31-64). On multivariate analysis, complete surgical resection, radiotherapy, and high-dose chemotherapy were associated with a better overall survival with a relative risk of, respectively, 7.9 CI 95% (2.6-23.5) p < 0.0002, 41.8 CI 95% (9.4-186) p < 0.0001, and 3.5 CI 95% (1.3-9.5) p = 0.012.

Conclusion: Prognosis of ETMR remains dismal despite multimodal therapy. LIN28A immunostaining and 19q13.42 amplification should be systematically done to secure the diagnosis. Complete surgical resection, radiotherapy, and high-dose chemotherapy are associated with better outcome.
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http://dx.doi.org/10.1007/s00381-015-2920-2DOI Listing
February 2016

Association between Kniest dysplasia and chondrosarcoma in a child.

Am J Med Genet A 2015 Dec 8;167A(12):3204-8. Epub 2015 Sep 8.

Pediatric Oncology Unit, Oscar Lambret Center, Lille, France.

Constitutive COL2A1 mutations are associated with a wide variety of clinical manifestations known as type II collagenopathies. Among them is Kniest dysplasia, which is phenotypically variable and includes both skeletal (short trunk and limbs, kyphoscoliosis, prominent joints, and osteoarthritis) and craniofacial characteristics. Kniest dysplasia mutations primarily arise in the triple-helicoidal region of the alpha 1 (II) chain in COL2A1 between exons 12 and 24. Somatic COL2A1 mutations have been identified in chondrosarcoma, a rare cartilage forming neoplasm, with a hypermutability of the gene reported in 37% of cases. However, to the best of our knowledge, there is no reported increase in predisposition to chondrosarcoma in human collagenopathies, and no reported clinical association between these congenital diseases and cartilaginous tumors. In the case study presented here, we report the first description of an association between these two rare diseases involving COL2A1, in a child presenting with Kniest dysplasia and a grade I sphenoethmoidal chondrosarcoma. We also describe a new constitutive mutation in COL2A1.
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http://dx.doi.org/10.1002/ajmg.a.37361DOI Listing
December 2015

Ruptured cerebral arteriovenous malformations: Outcomes analysis after microsurgery.

Clin Neurol Neurosurg 2015 Nov 28;138:137-42. Epub 2015 Aug 28.

Department of Neurosurgery, Lille University Hospital, France.

Objective: Our study aimed to evaluate the functional outcome and the risk of postoperative remnant in patients with rAVM after microsurgical treatment.

Materials And Methods: This is a retrospective of 139 consecutive patients operated for a rAVM between 2002 and 2012 in our institution. The age at diagnosis and the WFNS score were recorded for each patient before treatment. All patients were re-evaluated 3 months after treatment using mRS scale. Conventional angiography was performed in the first 2 postoperative weeks and then a year later to detect any remnant or recurrence.

Results: The mean age at diagnosis was 30.8 years (range 4-69 SD: ±5) and 44 patients had an age at diagnosis <18 yo. The mRS score 3 months after treatment was ≤2 in 104 patients (83%). Predictive factors of good functional outcome were age at diagnosis <25 yo, initial WFNS score ≤ 2, SPM grade ≤ 2 and absence of acute hydrocephalus (p<0.05). Complete obliteration was obtained in 123 patients (89.5%) after the first microsurgical treatment. Early postoperative conventional angiography revealed a rAVM remnant in 16 patients (10.5%). Late conventional angiography showed a recurrence in 6 patients (4.5%). All of them were <18 yo. Predictive factors of postoperative rAVM remnant were an initial WFNS score>2, SPM grade>2 and preoperative evaluation limited only to CT angiography in emergency situation (p<0.05).

Conclusion: Functional outcome after microsurgical treatment was good in 83% of patients with rAVM. Good results were also recorded in 28% of patients with poor initial neurological status and severe intracerebral hemorrhage, which required immediate surgery. In case of remnant, a further treatment should be decided in a true multidisciplinary discussion to protect the patient from any rebleeding.
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http://dx.doi.org/10.1016/j.clineuro.2015.08.017DOI Listing
November 2015

Bevacizumab decreases vestibular schwannomas growth rate in children and teenagers with neurofibromatosis type 2.

J Neurooncol 2015 Sep 29;124(2):229-36. Epub 2015 May 29.

Pediatric Oncology Unit, Oscar Lambret Center, 3 Rue F. Combemale, 59020, Lille, France.

Vestibular schwannoma (VS) growth in neurofibromatosis type 2 (NF2) can be responsible for brainstem compression and hearing loss. Surgical removal remains the standard therapy despite potential morbidity. Previous studies suggested that the inhibition of the VEGF-pathway with bevacizumab could result in hearing improvement, reduction of the tumor volume or both in adults. We retrospectively describe the French experience of bevacizumab treatment delivered for progressive VS in pediatric NF2 patients. Patients received Bevacizumab 5 or 10 mg/kg every 2 weeks according to the physician's choice. Follow-up included clinical assessment, audiometry and volumetric MRI every 3-6 months. Seven patients harboring 11 VS were included. The median age at inclusion was 15 years (11.4-18.8), and the median treatment duration was 11.3 months (3.2-55.6). At baseline, the median tumor volume was 1.2 cm(3) (0.52-13.5) and the median word recognition score was 90 % (0-100). We observed one major response, two minor responses and a decrease in the rate of tumor growth for the 4 other patients. The median annual growth rate before treatment was significantly higher than after 1 year of treatment (138 vs. 36 %, n = 5, p = 0.043). We noted one hearing improvement over the course of 1 year under treatment (hearing response rate was 14 %). Overall, the treatment was well tolerated. Our study supports that bevacizumab is an attractive therapeutic option for pediatric NF2 patients with growing VS. Thorough multidisciplinary evaluation is necessary to identify the best candidates prior to treatment. It is likely that a better functional outcome would be expected if targeted therapies were discussed early in the management of the disease.
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http://dx.doi.org/10.1007/s11060-015-1828-8DOI Listing
September 2015

Long survival in a child with a mutated K27M-H3.3 pilocytic astrocytoma.

Ann Clin Transl Neurol 2015 Apr 3;2(4):439-43. Epub 2015 Mar 3.

Pediatric Oncology Unit, Oscar Lambret Center Lille, France ; Unité Tumorigénèse et Résistance au Traitement, INSERM U908, Oscar Lambret Center Lille, France.

We report the first case of a child with a H3F3A K27M mutated pilocytic astrocytoma, who presented with a 10 years survival, and underwent spontaneous malignant transformation. The complex tumoral chromosomal rearrangements were consistent for genomic instability and for the histopathological features of malignant transformation into glioblastoma. H3F3A K27M mutations are rarely observed in benign neoplasms and may be associated with an adverse outcome. This mutation might not be the major driver that led to the onset of tumorigenesis, and we could consider that the associated TP53 mutation, would be required for malignant transformation.
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http://dx.doi.org/10.1002/acn3.184DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4402089PMC
April 2015

Anorexia: an early sign of fourth ventricle astrocytoma in children.

Childs Nerv Syst 2014 Dec 21;30(12):2089-95. Epub 2014 Aug 21.

Pediatric Neurosurgery Unit, University Hospital, Lille, France.

Introduction: Paediatric low-grade astrocytomas of the fourth ventricle are rare tumours, generally revealed by hydrocephalus. However, some patients present with a history of severe anorexia. It might be a harbinger, which if recognized, could lead to earlier diagnosis. We decided to examine our database in order to evaluate the incidence and signification of anorexia in this context.

Methods: Retrospective monocentric study of cases of low-grade astrocytomas of the fourth ventricle operated between 1991 and 2012 in our paediatric neurosurgery department. We particularly observed the clinical presentation and long-term clinical, oncological and radiological evolution. Non-parametrical tests were used (Mann-Whitney, Fisher).

Results: We reviewed 34 cases, 31 pilocytic astrocytomas and 3 diffuse astrocytomas, 16 boys and 18 girls, (M/F ratio 0.89). Mean age at diagnosis was 8 years old. Seven presented with notable anorexia, the average BMI in this group was ≤2 standard deviation (SD); with clinical signs evolving for 11.5 months. Twenty-seven children had no anorexia; average BMI in this group was +1 SD, with clinical evolution for 6 months on an average of p < 0.05. We found no significant difference regarding hydrocephalus or tumour location. In all children with anorexia, body mass index improved markedly in the postoperative follow-up, which lasted, on average, for 6 years.

Conclusion: Anorexia with stunted body weight curve is a non-exceptional presentation in children with low-grade astrocytomas of the fourth ventricle. Unexplained or atypical anorexia with negative etiologic assessment should prompt cerebral imaging. Clinical improvement after surgical resection, could suggest a possible interaction between tumour tissue and appetite-suppressing peptide secretion.
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http://dx.doi.org/10.1007/s00381-014-2533-1DOI Listing
December 2014

[Melanotic neuroectodermal tumors of infancy: Current state of knowledge].

Bull Cancer 2014 Jun;101(6):626-36

Centre Oscar-Lambret, Unité d'oncologie pédiatrique, 3, rue Frédéric-Combemale, 59000 Lille, France.

Melanotic Neuroectodermal Tumors of Infancy (MNTI), also known as melanotic progonoma are rare tumors affecting young children. The main locations are primarily head, neck and cranial vault. Complete surgical resection remains the standard treatment for these tumors leading to healing in the majority of cases. However, recurrent, metastatic or locally advanced forms require other treatments. The literature since 1980 reported 27 cases of patients who received treatment with chemotherapy and/or radiation therapy. Among the 24 patients who received chemotherapy, a reduction or stabilization of tumor volume was observed in 14 observations. Nine patients received radiation therapy and one patient experiences a tumor improvement. The information provided by this review can evoke the chemosensitivity of this rare tumor type but are insufficient to conclude about their radiosensitivity.
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http://dx.doi.org/10.1684/bdc.2014.1985DOI Listing
June 2014

Detection of (1,3)-β-D-glucans in situ in a Candida albicans brain granuloma.

J Infect 2013 Dec 9;67(6):622-4. Epub 2013 Aug 9.

Université Lille Nord de France, Laboratoire de Parasitologie-Mycologie, CHRU, Inserm U995, Lille, France.

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http://dx.doi.org/10.1016/j.jinf.2013.08.002DOI Listing
December 2013

Trigonocephaly: Lille's surgical technique.

Childs Nerv Syst 2013 Dec 31;29(12):2183-8. Epub 2013 Jul 31.

French National Center for Rare Craniomaxillofacial Malformations, Lille University Hospital, Lille, France,

From the early beginning, in 1977, of our experience in the treatment of trigonocephaly and with the follow-up of 263 patients, we have been convinced that it was a condition related to the skull base. It is now proved thank to the comparison between patient's CT scan and normal template (normal skull of the same age) in vestibular orientation. We used to correct this condition by a frontal reshaping and a rotation of the superior and lateral orbital rim along an oblique axis. We call that movement: "valgisation."
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http://dx.doi.org/10.1007/s00381-013-2229-yDOI Listing
December 2013

Primary gliomatosis cerebri involving gray matter in pediatrics: a distinct entity? A multicenter study of 14 cases.

Childs Nerv Syst 2013 Apr 10;29(4):565-71. Epub 2013 Jan 10.

Department of Pediatric Oncology, Pontchaillou University Hospital, Rennes, France.

Background And Purpose: Gliomatosis cerebri (GC) is a rare neoplasm including a variety of tumors, with extremely variable evolution and heterogeneity of prognosis. It may appear either de novo or after a focal glioma, involve predominantly the white or the gray matter, and concern either pediatric or adult patients. We focused on primary GC involving exclusively gray matter in a pediatric population in order better to define the presentation and outcome of this disease.

Patients And Methods: We reviewed the databases of seven Departments of Pediatric Oncology to identify pediatric cases of GC between 1990 and 2007. Patients were included if they demonstrated a diffuse infiltrative process involving gray matter in magnetic resonance imaging (MRI) and histological tissue analyses, confirming a proliferative glial disorder.

Results: Fourteen patients with a median age of 8 years were identified. Epilepsy was the main presenting symptom. Brain MRI showed a lesion of the temporal and insular cerebral cortex associated with tumoral infiltration of the thalami and the basal ganglia. Histological examination confirmed the diagnosis of high-grade glioma. Prognosis was always very gloomy in the short term, with a median survival of less than a year.

Conclusion: This rare entity, whose prognosis is appalling whatever the treatment proposed, should be clearly identified within the heterogeneous group of GC in the same way as diffuse intrinsic pontine gliomas have been identified among brain stem tumors. Systematic biopsies appear essential to permit the molecular studies which will assist in guiding the choice of future targeted treatments.
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http://dx.doi.org/10.1007/s00381-012-2016-1DOI Listing
April 2013

Pediatric hydrocephalus outcomes: a review.

Fluids Barriers CNS 2012 Aug 27;9(1):18. Epub 2012 Aug 27.

Department of Pediatric Neurosurgery, Lille University Hospital, Lille, France.

The outcome of pediatric hydrocephalus, including surgical complications, neurological sequelae and academic achievement, has been the matter of many studies. However, much uncertainty remains, regarding the very long-term and social outcome, and the determinants of complications and clinical outcome. In this paper, we review the different facets of outcome, including surgical outcome (shunt failure, infection and independence, and complications of endoscopy), clinical outcome (neurological, sensory, cognitive sequels, epilepsy), schooling and social integration. We then provide a brief review of the English-language literature and highlighting selected studies that provide information on the outcome and sequelae of pediatric hydrocephalus, and the impact of predictive variables on outcome. Mortality caused by hydrocephalus and its treatments is between 0 and 3%, depending on the duration of follow-up. Shunt event-free survival (EFS) is about 70% at one year and 40% at ten years. The EFS after endoscopic third ventriculostomy (ETV) appears better but likely benefits from selection bias and long-term figures are not available. Shunt infection affects between 5 and 8% of surgeries, and 15 to 30% of patients according to the duration of follow-up. Shunt independence can be achieved in 3 to 9% of patients, but the definition of this varies. Broad variations in the prevalence of cognitive sequelae, affecting 12 to 50% of children, and difficulties at school, affecting between 20 and 60%, attest of disparities among studies in their clinical evaluation. Epilepsy, affecting 6 to 30% of patients, has a serious impact on outcome. In adulthood, social integration is poor in a substantial number of patients but data are sparse. Few controlled prospective studies exist regarding hydrocephalus outcomes; in their absence, largely retrospective studies must be used to evaluate the long-term consequences of hydrocephalus and its treatments. This review aims to help to establish the current state of knowledge and to identify conflicting data and unanswered questions, in order to direct future studies.
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http://dx.doi.org/10.1186/2045-8118-9-18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3584674PMC
August 2012

Aplasia cutis congenita: review of 29 cases and proposal of a therapeutic strategy.

Eur J Pediatr Surg 2013 Apr 17;23(2):89-93. Epub 2012 Aug 17.

Hôpital Jeanne de Flandre - Clinique de chirurgie et d'orthopédie de l'enfant, Lille, France.

Introduction: Aplasia cutis congenita (ACC) is a rare congenital disorder, which most commonly involves the scalp, and can affect the galea, the pericranium, the bone, and the dura mater. ACC thus is at risk of infection and hemorrhage. There is no consensus over the ideal management and the role for plastic surgery.

Materials And Methods: We reviewed retrospectively our experience with 29 patients treated between 1976 and 2011.

Results: The patients were 17 male and 12 female, 25 being referred immediately at birth. The size of the defect ranged from 1 to 192 cm2. Thirteen patients had bone aplasia. Initial conservative treatment was decided in five cases; 15 patients underwent excision-sutures with or without local plasty, 8 underwent pedicled scalp flap, and 1 had skin graft followed by further reconstruction by a free flap. Four patients died in neonatal period because of infection or associated ailments. All others patients achieved complete healing.

Discussion: The mortality rate of ACC remains high and increases with the size of bone defect. We propose a therapeutic strategy based on the size of the skin defect and the nature of underlying exposed structures. Cranioplasty is exceptionally necessary because of good spontaneous bone regeneration within few months or years. Cosmetic appearance can be improved later by skin expansion.

Conclusion: Aplasia cutis congenita is a rare malformation with sometimes a rapid fatal issue. A precise evaluation of surface and depth of the lesion is essential to decide if and how to operate, in order to provide rapid and efficient coverage.
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http://dx.doi.org/10.1055/s-0032-1322539DOI Listing
April 2013