4756 Background: Intracranial aneurysms in sickle-cell anemia (SCA) have been reported in about 5... more 4756 Background: Intracranial aneurysms in sickle-cell anemia (SCA) have been reported in about 50 adult patients, mostly presenting with subarachnoid hemorrhage (SAH). Aneurysms in those patients tend to be multiple (50%), to involve the posterior circulation more frequently than in the general population (33% vs 14%) and to be diagnosed at a younger age. In pediatric SCA patients, SAH has scarcely been reported, without evident link with stenotic cerebral vasculopathy. An associated intracranial aneurysm has only been demonstrated once in a teenager. Case reports: We report the cases of 2 children with sickle-cell anemia (HbSS) with intracranial aneurysms. The first patient was a 5-year old girl with abnormal transcranial Doppler (TCD) screening for cerebral vasculopathy: left middle cerebral artery time-averaged mean velocity (MCA TAMV) 208cm/sec, right MCA TAMV 196cm/sec. She had normal neurological assessment. On her brain MRA, no stenotic lesion was found within the Circle of ...
The aim of this study was to assess the feasibility and the effectiveness of a fetoscopic myelome... more The aim of this study was to assess the feasibility and the effectiveness of a fetoscopic myelomeningocele (MMC) repair with a running single suture using a 2-port access in the sheep model. Eighteen fetuses underwent surgical creation of a MMC defect at day 75. Fetuses were then randomized into 3 groups. Four fetuses remained untreated (control group). In the other 14 fetuses, a prenatal repair was performed at day 90: 7 fetuses had an open repair (oMMC), and 7 fetuses had a fetoscopic repair (fMMC) using a single-layer running suture through a 2-port access. Lambs were sacrificed at term, and histological examinations were performed. Hindbrain herniation was observed in all live lambs in the control group. A complete closure of the defect was achieved in all the lambs of the fMMC group. A complete healing of the defect and no hindbrain herniation were observed in all live lambs of the oMMC and fMMC groups. The durations of surgeries were not statistically different between the oMM...
Respiratory problems are common in Morquio-A syndrome (MPS IVA) but objective data on sleep-disor... more Respiratory problems are common in Morquio-A syndrome (MPS IVA) but objective data on sleep-disordered breathing are scarce. The aim of our study was to review polygraphic (PG) findings and the need for noninvasive continuous positive airway pressure (CPAP) or noninvasive ventilation (NIV) in children with MPS IVA. A retrospective review of the clinical charts and PG of 16 consecutive children (7 boys, mean age 10.5 ± 4.2 years) with MPS IVA seen over a period of 3 years was performed. The prevalence of obstructive sleep apnea (OSA) was 69% with only five patients, all younger than 10 years old, having a normal PG. Four patients had mild OSA (apnea-hypopnea index [AHI] ≥1.5 and <5 events/hr), three patients had moderate OSA (AHI ≥5 and <10 events/hr), and three patients had severe OSA (AHI ≥ 10 events/hr). Among the 10 patients with OSA, 3 had prior adenoidectomy ± tonsillectomy and 6 were on enzyme replacement therapy. Only one patient had a central apnea index >5 events/hr despite prior cervico-occipital decompression. Six patients, all older than 11 years old, were started on CPAP or NIV because of severe OSA (n = 4), nocturnal hypoventilation (n = 1), or impossibility to be weaned from NIV after an acute respiratory failure (n = 1). Prevalence of OSA is high in patients with MPS IVA, underlying the importance of a systematic screening for sleep-disordered breathing. CPAP and NIV are efficient and well accepted for treating sleep-disordered breathing.
We report the surgical management of a lesional drug-resistant epilepsy caused by a meningioangio... more We report the surgical management of a lesional drug-resistant epilepsy caused by a meningioangiomatosis associated with a type IIIc focal cortical dysplasia located in the left supplementary motor area in a young male patient. A first anatomically based partial surgical resection was performed on an 11-year-old under general anesthesia without intraoperative mapping, which allowed for postoperative seizure control (Engel IA) for 6 years. The patient then exhibited intractable right sensatory and aphasic focal onset seizures despite 2 appropriate antiepileptic drugs. A second functional-based surgical resection was performed using intraoperative corticosubcortical functional mapping with direct electrical stimulation under awake conditions. A complete surgical resection was performed, and a left partial supplementary motor area syndrome was observed. At 6 months postoperatively, the patient is seizure free (Engel IA) with an ongoing decrease in antiepileptic drug therapy. Intraopera...
Purpose To propose and validate a modified pediatric intracerebral hemorrhage (PICH) (mPICH) scor... more Purpose To propose and validate a modified pediatric intracerebral hemorrhage (PICH) (mPICH) score and to compare its association with functional outcome to that of the original PICH score. Materials and Methods Data from prospectively included patients were retrospectively analyzed. Consecutive patients with nontraumatic PICH who had undergone clinical follow-up were included. The study population was divided into a development cohort (2008-2012, n = 100) and a validation cohort (2013-2016, n = 43). An mPICH score was developed after variables associated with poor outcome were identified at multivariate analysis (King's Outcome Scale for Childhood Head Injury score < 5a) in the development cohort. The accuracy of the score for prediction of poor outcome was evaluated (sensitivity, specificity). Discrimination and calibration of associations between the mPICH score and poor outcome cohorts were assessed (C statistics, Hosmer-Lemeshow test). Results The mPICH score assessed as...
The age of closure of skull base synchondroses has never been analyzed in a homogenous population... more The age of closure of skull base synchondroses has never been analyzed in a homogenous population of children with Crouzon syndrome. A retrospective case-control study was performed on 30 Crouzon children (17 male, 13 female) aged 1 month to 12.48 years with Fibroblast Growth Factor Receptor type 2 mutation. Eleven synchondroses were analyzed on millimetric computed tomodensitometric slices before surgery. Syndromic patients were compared with a series of 235 healthy children previously published. Synchondrosis closure follows a global pattern that occurs earlier in Crouzon syndrome than in controls (P ≤ 0.002). Synchondrosis fusion starts at 10 months of age with posterior intraoccipital synchondroses and lambdoid sutures, followed by occipitomastoid synchondroses between 1.85 (right) and 2.27 years (left) and anterior intraoccipital synchondroses at approximately 2.80 years. Time to complete fusion varies considerably according to the synchondroses. Spheno-occipital and petro-occi...
This study aims to assess the feasibility and the effectiveness of a fetoscopic myelomeningocele ... more This study aims to assess the feasibility and the effectiveness of a fetoscopic myelomeningocele (MMC) coverage using a sealed inert patch through a two-port access, in the sheep model. Forty-four fetuses underwent surgical creation of a MMC defect at day 75 and were divided into four groups according to the MMC repair technique, performed at day 90. Group 1 remained untreated. Group 2 had an open surgery using suture of the defect. Groups 3 and 4 underwent defect coverage using a Gore®-polytetrafluoroethylene patch secured with surgical adhesive (Bioglue®), with an open approach (group 3) and a fetoscopic one (group 4). Lambs were killed at term, and histological examinations were performed. Fetoscopic patch coverage was achieved in all the lambs of group 4. All the fetuses of group 2 had a complete closure of the defect whereas only 38% in group 3 and 14% in group 4. Fetal loss rate seems to be lower in group 4 than in groups 2 and 3. Fetoscopic coverage of MMC defect can be performed using a sealed patch through a two-port access, but the patch and glue correction may not be the ideal technique to repair fetal MMC.
OBJECTIVEHydrocephalus remains one of the more common pathologies managed in pediatric neurosurgi... more OBJECTIVEHydrocephalus remains one of the more common pathologies managed in pediatric neurosurgical units. Endoscopic third ventriculostomy (ETV) has an advantage over ventriculoperitoneal shunting as it enables patients to remain device free. Multiple shunt devices with various valve designs exist, with no one valve proven to be superior to another. The aim of this study was to describe the management of hydrocephalus and its long-term outcome.METHODSThe authors retrospectively reviewed the medical records of all patients who had been treated for hydrocephalus at the Hôpital Necker-Enfants Malades in the period from 1985 to 1995.RESULTSNine hundred seventy-five children had been treated for hydrocephalus. The mean follow-up was 11 ± 7.4 years (mean ± standard deviation). The most common cause of hydrocephalus was tumor related (32.3%), followed by malformative (24.5%) and inflammatory (20.9%) causes. Two hundred eighty patients underwent ETV as the first-line treatment. The proced...
Decompressive craniectomy (DC) is a lifesaving procedure but is associated to several post-operat... more 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. 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. 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). 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.
Mucopolysaccharidosis type IIIB syndrome (also known as Sanfilippo type B syndrome) is a lysosoma... more Mucopolysaccharidosis type IIIB syndrome (also known as Sanfilippo type B syndrome) is a lysosomal storage disease resulting in progressive deterioration of cognitive acquisition after age 2-4 years. No treatment is available for the neurological manifestations of the disease. We sought to assess the safety and efficacy of a novel intracerebral gene therapy. Local regulatory authorities in France allowed inclusion of up to four children in this phase 1/2 study. Treatment was 16 intraparenchymal deposits (four in the cerebellum) of a recombinant adenoassociated viral vector serotype 2/5 (rAAV2/5) encoding human α-N-acetylglucosaminidase (NAGLU) plus immunosuppressive therapy. We assessed tolerance, neurocognitive progression, brain growth, NAGLU enzymatic activity in CSF, and specific anti-NAGLU immune response for 30 months after surgery. This trial is registered with EudraCT, number 2012-000856-33, and the International Standard Clinical Trial Registry, number ISRCTN19853672. Of se...
The complete and safe resection of pediatric cervicothoracic tumors, mostly represented by neurog... more The complete and safe resection of pediatric cervicothoracic tumors, mostly represented by neurogenic tumors, remains a surgical challenge because of the complex anatomy of this region. The transmanubrial osteomuscular-sparing approach (TOSA) is an alternative to isolated or combined cervical and thoracic approaches enabling the control of supra-aortic vessels and nerves through the thoracic inlet. We retrospectively reviewed the tumor characteristics, completeness of resection, morbidity, and long-term outcome of patients with cervicothoracic tumors removed by TOSA between 2000 and 2012 in our institution. Thirteen patients (7 males, 6 females) underwent surgery at a median age of 72 months (4-188) for neuroblastoma (n = 6), ganglioneuroblastoma (n = 3), rhabdoid tumor (n = 1), melanotic schwannoma (n = 1), chordoma (n = 1), and malignant peripheral nerve sheath tumor in one patient with type 1 neurofibromatosis. The median duration of the procedure was 215 minutes (110-315). Two c...
American journal of medical genetics. Part A, 2017
Moyamoya syndrome (MMS) is the most common cerebral vasculopathy among children with neurofibroma... more Moyamoya syndrome (MMS) is the most common cerebral vasculopathy among children with neurofibromatosis type 1 (NF1). In this study, we clinically, radiologically, and genetically examined a cohort that was not previously described, comprising European children with NF1 and MMS. The NF1 genotyping had been registered. This study included 18 children. The mean age was 2.93 ± 3.03 years at the NF1 diagnosis and 7.43 ± 4.27 years at the MMS diagnosis. In seven patients, MMS was diagnosed before or at the same time as NF1. Neuroimaging was performed in 10 patients due to clinical symptoms, including headache (n = 6), cerebral infarction (n = 2), and complex partial seizures (n = 2). The remaining eight children (47%) had MMS diagnosed incidentally. Sixteen children were characterized molecularly. The features of MMS were similar between patients with and without NF1. Additionally, the NF1 phenotype and genotype were similar between children with and without MMS. Interestingly, three chil...
Multiple burr hole (MBH) surgery is a simple, safe, and effective indirect technique of revascula... more Multiple burr hole (MBH) surgery is a simple, safe, and effective indirect technique of revascularization in moyamoya angiopathy (MM). However, it is not yet recognized as a first-line treatment. To assess the long-term outcome and perioperative complications in a large single-center cohort of children with MM who underwent burr hole surgery. This study is a retrospective analysis of children who underwent surgery for MM in a national reference center for pediatric stroke between 1999 and 2015. Sixty-four children (108 hemispheres, median age 7 years) were consecutively treated. The indication for revascularization was previous stroke or transient ischemic attack (TIA) or rapidly progressive disease on brain magnetic resonance imaging (MRI) and digital subtraction angiography. Children were followed with clinical examinations, telephone interviews, and MRI with any clinical recurrence of stroke or TIA used as the primary endpoint. Surgical mortality and morbidity were documented. Si...
Sleep-disordered breathing is a common feature in children with achondroplasia. The aim of our st... more Sleep-disordered breathing is a common feature in children with achondroplasia. The aim of our study was to review the poly(somno)graphic (P(S)G) findings and consequent treatments in children with achondroplasia followed in the national reference center for skeletal dysplasia. A retrospective review of the clinical charts and P(S)G of 43 consecutive children (mean age 3.9 ± 3.5 years) with achondroplasia seen over a period of 2 years was performed. Twenty four (59%) children had obstructive sleep apnea (OSA). Thirteen children had an obstructive apnea-hypopnea index (OAHI) &amp;amp;amp;amp;amp;amp;amp;amp;lt; 5/hr, four had an OAHI between 5 and 10/hr, and seven had an OAHI ≥ 10/hr. Ten of the 15 children who had previous upper airway surgery still had an abnormal P(S)G. All the patients with an AHI ≥ 10/hr were under 7 years of age and none had a prior tonsillectomy. The children who underwent adeno-tonsillectomy, coupled in most cases with turbinectomy, were significantly older (mean age 7.5 ± 3.5 vs. 3.5 ± 1.7 years old, P = 0.015) and had significantly better P(S)G results than those who underwent only adeno-turbinectomy. No correlation was observed between the mean AHI value at the baseline P(S)G and the type of academic course (standard, supported or specialized). In conclusion, OSA is common in children with achondroplasia. The observation of a reduced prevalence of OSA after (adeno-)tonsillectomy is in favor of this type of surgery when possible.
Central sleep apnea (CSA) syndromes are rare in children and data in children over one year of ag... more Central sleep apnea (CSA) syndromes are rare in children and data in children over one year of age are scarce. The aim of the study was to describe the sleep characteristics, underlying disorders, management, and outcome of children with CSA. A retrospective chart review of all children &amp;amp;amp;amp;gt;1 year of age, diagnosed with CSA on a laboratory sleep study during a 20-month period, was performed. CSA was defined by a central apnea index (CAI) &amp;amp;amp;amp;gt;5 events/h. The clinical management and the patient&amp;amp;amp;amp;#39;s outcome were analyzed. Eighteen of 441 (4.1%) patients recorded during the study period had CSA. The median CAI, pulse oximetry, and oxygen desaturation index were 13/h (range 6-146), 96% (93-98%), and 18/h (6-98), respectively. Neurosurgical pathologies represented the most common underlying disorders with Arnold-Chiari malformation in four and ganglioglioma in three patients. Other underlying disorders were Prader-Willi syndrome (N = 3), achondroplasia (N = 2), and Down syndrome, with one patient having an achondroplasia and a Down syndrome. The remaining six patients had other genetic diseases. The most common investigation was brain magnetic resonance imaging (MRI). Individualized management with neurosurgery and/or chemotherapy, continuous positive airway pressure (in two patients having associated obstructive events), or noninvasive ventilation resulted in an improvement in CSA and the clinical presentation in 11 patients. CSA is rare in children &amp;amp;amp;amp;gt;1 year of age. Underlying disorders are dominated by neurosurgical disorders. Individualized management is able to improve CSA and the clinical condition in most patients.
4756 Background: Intracranial aneurysms in sickle-cell anemia (SCA) have been reported in about 5... more 4756 Background: Intracranial aneurysms in sickle-cell anemia (SCA) have been reported in about 50 adult patients, mostly presenting with subarachnoid hemorrhage (SAH). Aneurysms in those patients tend to be multiple (50%), to involve the posterior circulation more frequently than in the general population (33% vs 14%) and to be diagnosed at a younger age. In pediatric SCA patients, SAH has scarcely been reported, without evident link with stenotic cerebral vasculopathy. An associated intracranial aneurysm has only been demonstrated once in a teenager. Case reports: We report the cases of 2 children with sickle-cell anemia (HbSS) with intracranial aneurysms. The first patient was a 5-year old girl with abnormal transcranial Doppler (TCD) screening for cerebral vasculopathy: left middle cerebral artery time-averaged mean velocity (MCA TAMV) 208cm/sec, right MCA TAMV 196cm/sec. She had normal neurological assessment. On her brain MRA, no stenotic lesion was found within the Circle of ...
The aim of this study was to assess the feasibility and the effectiveness of a fetoscopic myelome... more The aim of this study was to assess the feasibility and the effectiveness of a fetoscopic myelomeningocele (MMC) repair with a running single suture using a 2-port access in the sheep model. Eighteen fetuses underwent surgical creation of a MMC defect at day 75. Fetuses were then randomized into 3 groups. Four fetuses remained untreated (control group). In the other 14 fetuses, a prenatal repair was performed at day 90: 7 fetuses had an open repair (oMMC), and 7 fetuses had a fetoscopic repair (fMMC) using a single-layer running suture through a 2-port access. Lambs were sacrificed at term, and histological examinations were performed. Hindbrain herniation was observed in all live lambs in the control group. A complete closure of the defect was achieved in all the lambs of the fMMC group. A complete healing of the defect and no hindbrain herniation were observed in all live lambs of the oMMC and fMMC groups. The durations of surgeries were not statistically different between the oMM...
Respiratory problems are common in Morquio-A syndrome (MPS IVA) but objective data on sleep-disor... more Respiratory problems are common in Morquio-A syndrome (MPS IVA) but objective data on sleep-disordered breathing are scarce. The aim of our study was to review polygraphic (PG) findings and the need for noninvasive continuous positive airway pressure (CPAP) or noninvasive ventilation (NIV) in children with MPS IVA. A retrospective review of the clinical charts and PG of 16 consecutive children (7 boys, mean age 10.5 ± 4.2 years) with MPS IVA seen over a period of 3 years was performed. The prevalence of obstructive sleep apnea (OSA) was 69% with only five patients, all younger than 10 years old, having a normal PG. Four patients had mild OSA (apnea-hypopnea index [AHI] ≥1.5 and &amp;amp;lt;5 events/hr), three patients had moderate OSA (AHI ≥5 and &amp;amp;lt;10 events/hr), and three patients had severe OSA (AHI ≥ 10 events/hr). Among the 10 patients with OSA, 3 had prior adenoidectomy ± tonsillectomy and 6 were on enzyme replacement therapy. Only one patient had a central apnea index &amp;amp;gt;5 events/hr despite prior cervico-occipital decompression. Six patients, all older than 11 years old, were started on CPAP or NIV because of severe OSA (n = 4), nocturnal hypoventilation (n = 1), or impossibility to be weaned from NIV after an acute respiratory failure (n = 1). Prevalence of OSA is high in patients with MPS IVA, underlying the importance of a systematic screening for sleep-disordered breathing. CPAP and NIV are efficient and well accepted for treating sleep-disordered breathing.
We report the surgical management of a lesional drug-resistant epilepsy caused by a meningioangio... more We report the surgical management of a lesional drug-resistant epilepsy caused by a meningioangiomatosis associated with a type IIIc focal cortical dysplasia located in the left supplementary motor area in a young male patient. A first anatomically based partial surgical resection was performed on an 11-year-old under general anesthesia without intraoperative mapping, which allowed for postoperative seizure control (Engel IA) for 6 years. The patient then exhibited intractable right sensatory and aphasic focal onset seizures despite 2 appropriate antiepileptic drugs. A second functional-based surgical resection was performed using intraoperative corticosubcortical functional mapping with direct electrical stimulation under awake conditions. A complete surgical resection was performed, and a left partial supplementary motor area syndrome was observed. At 6 months postoperatively, the patient is seizure free (Engel IA) with an ongoing decrease in antiepileptic drug therapy. Intraopera...
Purpose To propose and validate a modified pediatric intracerebral hemorrhage (PICH) (mPICH) scor... more Purpose To propose and validate a modified pediatric intracerebral hemorrhage (PICH) (mPICH) score and to compare its association with functional outcome to that of the original PICH score. Materials and Methods Data from prospectively included patients were retrospectively analyzed. Consecutive patients with nontraumatic PICH who had undergone clinical follow-up were included. The study population was divided into a development cohort (2008-2012, n = 100) and a validation cohort (2013-2016, n = 43). An mPICH score was developed after variables associated with poor outcome were identified at multivariate analysis (King's Outcome Scale for Childhood Head Injury score < 5a) in the development cohort. The accuracy of the score for prediction of poor outcome was evaluated (sensitivity, specificity). Discrimination and calibration of associations between the mPICH score and poor outcome cohorts were assessed (C statistics, Hosmer-Lemeshow test). Results The mPICH score assessed as...
The age of closure of skull base synchondroses has never been analyzed in a homogenous population... more The age of closure of skull base synchondroses has never been analyzed in a homogenous population of children with Crouzon syndrome. A retrospective case-control study was performed on 30 Crouzon children (17 male, 13 female) aged 1 month to 12.48 years with Fibroblast Growth Factor Receptor type 2 mutation. Eleven synchondroses were analyzed on millimetric computed tomodensitometric slices before surgery. Syndromic patients were compared with a series of 235 healthy children previously published. Synchondrosis closure follows a global pattern that occurs earlier in Crouzon syndrome than in controls (P ≤ 0.002). Synchondrosis fusion starts at 10 months of age with posterior intraoccipital synchondroses and lambdoid sutures, followed by occipitomastoid synchondroses between 1.85 (right) and 2.27 years (left) and anterior intraoccipital synchondroses at approximately 2.80 years. Time to complete fusion varies considerably according to the synchondroses. Spheno-occipital and petro-occi...
This study aims to assess the feasibility and the effectiveness of a fetoscopic myelomeningocele ... more This study aims to assess the feasibility and the effectiveness of a fetoscopic myelomeningocele (MMC) coverage using a sealed inert patch through a two-port access, in the sheep model. Forty-four fetuses underwent surgical creation of a MMC defect at day 75 and were divided into four groups according to the MMC repair technique, performed at day 90. Group 1 remained untreated. Group 2 had an open surgery using suture of the defect. Groups 3 and 4 underwent defect coverage using a Gore®-polytetrafluoroethylene patch secured with surgical adhesive (Bioglue®), with an open approach (group 3) and a fetoscopic one (group 4). Lambs were killed at term, and histological examinations were performed. Fetoscopic patch coverage was achieved in all the lambs of group 4. All the fetuses of group 2 had a complete closure of the defect whereas only 38% in group 3 and 14% in group 4. Fetal loss rate seems to be lower in group 4 than in groups 2 and 3. Fetoscopic coverage of MMC defect can be performed using a sealed patch through a two-port access, but the patch and glue correction may not be the ideal technique to repair fetal MMC.
OBJECTIVEHydrocephalus remains one of the more common pathologies managed in pediatric neurosurgi... more OBJECTIVEHydrocephalus remains one of the more common pathologies managed in pediatric neurosurgical units. Endoscopic third ventriculostomy (ETV) has an advantage over ventriculoperitoneal shunting as it enables patients to remain device free. Multiple shunt devices with various valve designs exist, with no one valve proven to be superior to another. The aim of this study was to describe the management of hydrocephalus and its long-term outcome.METHODSThe authors retrospectively reviewed the medical records of all patients who had been treated for hydrocephalus at the Hôpital Necker-Enfants Malades in the period from 1985 to 1995.RESULTSNine hundred seventy-five children had been treated for hydrocephalus. The mean follow-up was 11 ± 7.4 years (mean ± standard deviation). The most common cause of hydrocephalus was tumor related (32.3%), followed by malformative (24.5%) and inflammatory (20.9%) causes. Two hundred eighty patients underwent ETV as the first-line treatment. The proced...
Decompressive craniectomy (DC) is a lifesaving procedure but is associated to several post-operat... more 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. 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. 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). 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.
Mucopolysaccharidosis type IIIB syndrome (also known as Sanfilippo type B syndrome) is a lysosoma... more Mucopolysaccharidosis type IIIB syndrome (also known as Sanfilippo type B syndrome) is a lysosomal storage disease resulting in progressive deterioration of cognitive acquisition after age 2-4 years. No treatment is available for the neurological manifestations of the disease. We sought to assess the safety and efficacy of a novel intracerebral gene therapy. Local regulatory authorities in France allowed inclusion of up to four children in this phase 1/2 study. Treatment was 16 intraparenchymal deposits (four in the cerebellum) of a recombinant adenoassociated viral vector serotype 2/5 (rAAV2/5) encoding human α-N-acetylglucosaminidase (NAGLU) plus immunosuppressive therapy. We assessed tolerance, neurocognitive progression, brain growth, NAGLU enzymatic activity in CSF, and specific anti-NAGLU immune response for 30 months after surgery. This trial is registered with EudraCT, number 2012-000856-33, and the International Standard Clinical Trial Registry, number ISRCTN19853672. Of se...
The complete and safe resection of pediatric cervicothoracic tumors, mostly represented by neurog... more The complete and safe resection of pediatric cervicothoracic tumors, mostly represented by neurogenic tumors, remains a surgical challenge because of the complex anatomy of this region. The transmanubrial osteomuscular-sparing approach (TOSA) is an alternative to isolated or combined cervical and thoracic approaches enabling the control of supra-aortic vessels and nerves through the thoracic inlet. We retrospectively reviewed the tumor characteristics, completeness of resection, morbidity, and long-term outcome of patients with cervicothoracic tumors removed by TOSA between 2000 and 2012 in our institution. Thirteen patients (7 males, 6 females) underwent surgery at a median age of 72 months (4-188) for neuroblastoma (n = 6), ganglioneuroblastoma (n = 3), rhabdoid tumor (n = 1), melanotic schwannoma (n = 1), chordoma (n = 1), and malignant peripheral nerve sheath tumor in one patient with type 1 neurofibromatosis. The median duration of the procedure was 215 minutes (110-315). Two c...
American journal of medical genetics. Part A, 2017
Moyamoya syndrome (MMS) is the most common cerebral vasculopathy among children with neurofibroma... more Moyamoya syndrome (MMS) is the most common cerebral vasculopathy among children with neurofibromatosis type 1 (NF1). In this study, we clinically, radiologically, and genetically examined a cohort that was not previously described, comprising European children with NF1 and MMS. The NF1 genotyping had been registered. This study included 18 children. The mean age was 2.93 ± 3.03 years at the NF1 diagnosis and 7.43 ± 4.27 years at the MMS diagnosis. In seven patients, MMS was diagnosed before or at the same time as NF1. Neuroimaging was performed in 10 patients due to clinical symptoms, including headache (n = 6), cerebral infarction (n = 2), and complex partial seizures (n = 2). The remaining eight children (47%) had MMS diagnosed incidentally. Sixteen children were characterized molecularly. The features of MMS were similar between patients with and without NF1. Additionally, the NF1 phenotype and genotype were similar between children with and without MMS. Interestingly, three chil...
Multiple burr hole (MBH) surgery is a simple, safe, and effective indirect technique of revascula... more Multiple burr hole (MBH) surgery is a simple, safe, and effective indirect technique of revascularization in moyamoya angiopathy (MM). However, it is not yet recognized as a first-line treatment. To assess the long-term outcome and perioperative complications in a large single-center cohort of children with MM who underwent burr hole surgery. This study is a retrospective analysis of children who underwent surgery for MM in a national reference center for pediatric stroke between 1999 and 2015. Sixty-four children (108 hemispheres, median age 7 years) were consecutively treated. The indication for revascularization was previous stroke or transient ischemic attack (TIA) or rapidly progressive disease on brain magnetic resonance imaging (MRI) and digital subtraction angiography. Children were followed with clinical examinations, telephone interviews, and MRI with any clinical recurrence of stroke or TIA used as the primary endpoint. Surgical mortality and morbidity were documented. Si...
Sleep-disordered breathing is a common feature in children with achondroplasia. The aim of our st... more Sleep-disordered breathing is a common feature in children with achondroplasia. The aim of our study was to review the poly(somno)graphic (P(S)G) findings and consequent treatments in children with achondroplasia followed in the national reference center for skeletal dysplasia. A retrospective review of the clinical charts and P(S)G of 43 consecutive children (mean age 3.9 ± 3.5 years) with achondroplasia seen over a period of 2 years was performed. Twenty four (59%) children had obstructive sleep apnea (OSA). Thirteen children had an obstructive apnea-hypopnea index (OAHI) &amp;amp;amp;amp;amp;amp;amp;amp;lt; 5/hr, four had an OAHI between 5 and 10/hr, and seven had an OAHI ≥ 10/hr. Ten of the 15 children who had previous upper airway surgery still had an abnormal P(S)G. All the patients with an AHI ≥ 10/hr were under 7 years of age and none had a prior tonsillectomy. The children who underwent adeno-tonsillectomy, coupled in most cases with turbinectomy, were significantly older (mean age 7.5 ± 3.5 vs. 3.5 ± 1.7 years old, P = 0.015) and had significantly better P(S)G results than those who underwent only adeno-turbinectomy. No correlation was observed between the mean AHI value at the baseline P(S)G and the type of academic course (standard, supported or specialized). In conclusion, OSA is common in children with achondroplasia. The observation of a reduced prevalence of OSA after (adeno-)tonsillectomy is in favor of this type of surgery when possible.
Central sleep apnea (CSA) syndromes are rare in children and data in children over one year of ag... more Central sleep apnea (CSA) syndromes are rare in children and data in children over one year of age are scarce. The aim of the study was to describe the sleep characteristics, underlying disorders, management, and outcome of children with CSA. A retrospective chart review of all children &amp;amp;amp;amp;gt;1 year of age, diagnosed with CSA on a laboratory sleep study during a 20-month period, was performed. CSA was defined by a central apnea index (CAI) &amp;amp;amp;amp;gt;5 events/h. The clinical management and the patient&amp;amp;amp;amp;#39;s outcome were analyzed. Eighteen of 441 (4.1%) patients recorded during the study period had CSA. The median CAI, pulse oximetry, and oxygen desaturation index were 13/h (range 6-146), 96% (93-98%), and 18/h (6-98), respectively. Neurosurgical pathologies represented the most common underlying disorders with Arnold-Chiari malformation in four and ganglioglioma in three patients. Other underlying disorders were Prader-Willi syndrome (N = 3), achondroplasia (N = 2), and Down syndrome, with one patient having an achondroplasia and a Down syndrome. The remaining six patients had other genetic diseases. The most common investigation was brain magnetic resonance imaging (MRI). Individualized management with neurosurgery and/or chemotherapy, continuous positive airway pressure (in two patients having associated obstructive events), or noninvasive ventilation resulted in an improvement in CSA and the clinical presentation in 11 patients. CSA is rare in children &amp;amp;amp;amp;gt;1 year of age. Underlying disorders are dominated by neurosurgical disorders. Individualized management is able to improve CSA and the clinical condition in most patients.
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