Intraventricular baclofen for palliative management of acquired generalized dystonia in pediatric patients: a case series and literature review.

Dystonia represents a significant source of disability in children. Generalized dystonia, which involves multiple body regions, leads to impaired mobility and motor function, resulting in substantial challenges in daily activities. Surgical treatments are used when medical treatments fail. Intrathecal baclofen (ITB) or deep brain stimulations (DBS) are the most employed surgical therapies. When these options are not feasible or ineffective, some authors have explored the use of intraventricular baclofen (IVB). In this report, we present four cases of pediatric patients with generalized dystonia who underwent treatment with IVB, resulting in notable improvements. To further explore the potential of this treatment modality, we conducted a comprehensive literature review. The findings from our study provide a comprehensive overview that can guide palliative management in similar cases.

Basal temporal lobe epilepsy: SEEG electroclinical characteristics.

OBJECTIVE: Temporal lobe epilepsy is the most common type of focal drug-resistant epilepsy. Seizures with predominant involvement of basal temporal regions (BTR) are not well characterized. In this stereo electroencephalography (SEEG) study, we aimed at describing the ictal networks involving BTR and the associated clinical features. METHODS: We studied 24 patients explored with SEEG in our center with BTR sampling. We analyzed their seizures using a quantitative method: the "epileptogenicity index". Then we reported the features of the patients with maximal epileptogenicity within BTR, especially ictal network involved, ictal semiology and post-surgical outcome. RESULTS: We found that rhinal cortex, parahippocampal cortex and posterior fusiform gyrus were the most epileptogenic structures within the BTR (mean EI: 0.57, 0.55, 0.54 respectively). Three main groups of epileptogenic zone organization were found: anterior (23% of total seizures) posterior (30%) and global (47%, both anterior and posterior). Contralateral spread was found in 35% of left seizures and 20% of right seizures. Naming deficit was more prevalent in left BTR (71% vs 29% in right seizures; p = 0.01) whereas automatic speech production was preferentially represented in right seizures (11% vs 54%; p = 0.001). Surgery was proposed for 11 patients (45.8%), leading to seizure freedom in 72% (Engel Class I). One patient presented post-operative permanent functional deficit. CONCLUSION: Basal-temporal lobe epilepsy seems to be a specific entity among the temporal epilepsy spectrum with specific clinical characteristics. Resective surgery can be proposed with good outcomes in a significant proportion of patients and is safe provided that adequate language assessment has been preoperatively made.

Judicial handling of cases of non-accidental head trauma in infants: Review and analysis of expert assessments.

INTRODUCTION: Good practice guidelines help clinicians to establish a suspected diagnosis of non-accidental head injury (NAHI) and help forensic experts to establish a level of certainty for the diagnosis. The objective of this study was to assess how the French Health Authority (HAS) guidelines contribute to the process of producing an expert assessment, on causation and certainty in cases of suspected NAHI. METHOD: A retrospective study was conducted of the expert assessments that were conducted by a paediatric surgeon and forensic expert attached to our local court between 2002 and 2018, with the aim of determining the causal mechanism of the lesions and express a degree of certainty regarding the diagnosis. RESULTS: In our study, we found that, despite the HAS guidelines, a number of documents deemed essential for the forensic expert were sometimes missing, and that, by applying these guidelines, the decisions reached in some expert assessments could been reclassified and certain factors formerly described as risk factors for injury could be excluded. A precise dating of the traumatic event was proposed in half of cases. CONCLUSION: Our study highlights the vital role of the HAS guidelines, not only for patient management but also to ensure high-quality expert assessments. Unfortunately, guidelines were not yet being properly adhered to by medical teams.

A child dural-based occipital cavernoma with an accessory venous sinus.

BACKGROUND: The diagnosis of extra-axial cavernoma and surgical decision-making can be difficult on children. REPORTED CASE: In this report we present the case of a 33-month-old child for whom the work up done for asthenia, anorexia and psychomotor regression reveals a well-defined occipital extra-axial lesion. A follow up MRI was performed two months later, revealing an increase in the size of the lesion associated with hemorrhagic changes. The surgical decision is performed after an arteriography; it allows the total removal of the lesion contained in a duplication of the dura mater, by placing a vascular clip on an accessory venous sinus draining the lesion, respecting the integrity of the lateral sinus. Histology confirms a cavernoma. No complication resulted from the surgical procedure. This atypical case of pediatric dural cavernoma associated with a well-defined accessory venous sinus in arteriography is to our knowledge the first description in the literature. CONCLUSION: Extra-axial cavernomas have a misleading presentation. The management of these lesions is of twofold interests: to avoid a repercussion on the development of these children, and to obtain histological confirmation.

Upward vectors for osteogenic distraction treatment in secondary chronic intracranial hypertension in children undergoing scaphocephaly surgery: 2 cases reported.

The occurrence of secondary synostosis of coronal sutures at distance from H-craniectomy surgery for scaphocephaly concerns about 10% of children. Intracranial hypertension in these children remains exceptional but generally requires a surgical reoperation. Two children aged 3 and 5- months- old had been operated for scaphocephaly by H-craniectomy in two different hospital centers. Their clinical follow-up described a partial persistence of dolichocephalic deformity and an impression of parietal stenosis. During their growth, chronic headaches appeared with a complaint expressed at the ages of 4 and 5 years. In both cases, ophthalmic examination revealed significant bilateral papillary edema without loss of visual acuity. The imaging assessment (CT-scan and MRI) showed the absence of Chiari malformation and venous abnormality. For both, there was a compression image of the parietal lobes in relation to the persistence of a temporoparietal synostosis. An osteogenic parietal distraction permitted a volumetric brain expansion consecutive to the skull and meninges remodeling in only 6 months, associated with a leap forward acquisition, a normalization of the ophthalmic examination, and a complete loss of headaches. In conclusion, this new approach could be used in the case of chronic intracranial hypertension consecutive to a secondary parietal synostosis after a scaphocephaly surgery.

Ibuprofen as risk-factor for complications of acute anterior sinusitis in children.

IMPORTANCE: Non-steroidal anti-inflammatory drugs (NSAIDs) are known to inhibit chemotaxis, oxidative burst and phagocytosis, bacterial killing in granulocytes as well as inhibiting neutrophil aggregation or degranulation, thereby interfering with the function of lymphocytes. On the other hand, ibuprofen is widely prescribed in pediatrics for its powerful analgesic and antipyretic effects. To our knowledge, no previous publication outlines the relationship between Ibuprofen therapy and an increased risk of intracranial and/or orbital complications of acute fronto-ethmoidal sinusitis in childhood. OBJECTIVE: To look for a relationship between ibuprofen and occurrence of intra-cranial and/or orbital complications of acute fronto-ethmoidal sinusitis in pediatrics. SETTING AND METHODS: The medical charts of patients younger than 18 years admitted into the E.N.T. departments of 4 academic care centers during 2 consecutive years for fronto ethmoidal sinusitis were reviewed retrospectively. The history of ibuprofen intake, the occurrence of complication (orbital or intracranial) as well as the usual demographic data were noted. A statistical analysis was performed in order to ascertain whether a relationship between taking NSAIDs and the onset of an intracranial and/or orbital complication exists. RESULTS: Intake of ibuprofen appeared to be a risk-factor of intracranial complications or associated orbital and intracranial complications of acute fronto-ethmoidal sinusitis in children. Neither gender nor age nor initial pain intensity were statistically related to the onset of complications. CONCLUSION AND RELEVANCE: This retrospective multicenter cohort study appears to suggest that ibuprofen increases the risk of orbital and/or intracranial complications of acute fronto-ethmoidal sinusitis in childhood. Therefore, we recommend not prescribing ibuprofen if one suspects an acute sinusitis in a child or adolescent.

Craniosynostosis and oculomotor disorders.

Simple, complex or syndromic craniosynostosis may be responsible for ocular and especially oculomotor pathologies. Among simple craniosynostosis, anterior plagiocephaly is the most frequently associated with oculomotor disorders. Oculomotor disorders encountered in craniosynostosis are specific to this pathology. They may be related to orbital deformities or oculomotor muscle malformations. Early craniofacial surgery reduces the onset and severity of these oculomotor disorders which is very important for ophtalmological patient care. Indeed, these oculomotor disorders are difficult to treat for the ophthalmologist with most of the time several surgeries needed, and lead to amblyopia if neglected.

C1-C2 type Harms internal fixation for unstable C2 fracture in a 6-year-old boy: Case report.

BACKGROUND: Decision-making is often difficult in odontoid fracture in children. CASE REPORT: We present the case of a 6-year-old boy who sustained cervical trauma on falling out of a tree. Initial cervical X-ray and CT-scan did not find any traumatic lesion. Three-week check-up revealed an unstable C2 fracture in the synchondrosis at the base of the odontoid bone, with anterior displacement (type IC on the classification of Hosalkar et al.), without neurological symptoms except for cervical pain and limitation of head rotation. MRI confirmed the absence of medullary lesion. The Harms technique was used to fix C1 and C2, using adult instrumentation without bone graft. Bone fusion was obtained at 8 months. Hardware was removed at 10 months. No complications were reported. CONCLUSIONS: Posterior internal fixation for unstable C2 fractures in children can be effective and relatively safe.

The role of the dorsal anterior insula in ecstatic sensation revealed by direct electrical brain stimulation.

BACKGROUND: An ecstatic phenomenon is an altered state of consciousness with a sense of "hyper-reality", and a complete present-moment awareness with a feeling of union with the Universe. A better understanding of the network mechanisms underlying this fascinating subjective experience may help to unravel some mysteries of human consciousness. Insula has been recently proposed to be a key region to elicit these symptoms. OBJECTIVE/HYPOTHESIS: We studied functional connectivity changes in several brain areas during the induction of ecstatic auras by direct electrical stimulation of the dorsal anterior insular cortex in patients with refractory focal epilepsy implanted with intracerebral electrodes (stereotactic-EEG, SEEG) in the context of their pre-surgical evaluation. METHODS: Three patients were selected on the basis of the occurrence of ecstatic symptoms triggered by direct intracerebral electrical stimulation (ES) of the antero-dorsal part of the insula. ES was performed (50 Hz, 1.5-2.1 mA, in a bipolar fashion to each contact in the gray matter during a 3 s period) to map functional cortices and trigger habitual seizures. One stimulation inducing ecstatic changes in each patient was analyzed. Functional connectivity analysis was performed by measuring interdependencies (nonlinear regression analysis based on the h2 coefficient) between SEEG signals before and after stimulations. RESULTS: In all patients, only the stimulation of dorsal anterior insula was able to reproduce an ecstatic aura. We observed a significant increase of functional connectivity values between several brain regions in the immediate period following stimulations. The most commonly implicated region was the dorsal anterior insula. Out-degrees (a measure intended to identify leading structures in a network) identified the dorsal anterior insula as the most common leading region in the induced networks. CONCLUSION(S): Our findings bring additional support in favor of a major role played by the dorsal anterior insula in ecstatic experiences.

The medical and social outcome in 2016 of infants who were victims of shaken baby syndrome between 2005 and 2013.

INTRODUCTION: There are few studies that have investigated the long-term outcome of children who have been victims of shaken baby syndrome (SBS). However, the consequences appear to be significant and the data available from a social point of view are scarce. The main objective of this study was to define the medical and social outcome in 2016 of the infants who were victims of SBS and admitted to one of the Marseille university hospitals. The number of patients followed by a specialized team was evaluated along with their clinical state, living conditions, and whether a social support system such as the Child welfare system had been put into place. METHOD: The study was retrospective and descriptive. Patients under 1 year of age who were hospitalized between January 2005 and December 2013 and manifested clinical and paraclinical characteristics enabling the diagnosis of SBS were included in the study. The diagnosis was certain, probable, or possible according to the definitions given by the consensus of the 2011 shaken baby health authority conference (HAS). RESULTS: Eighty babies qualified for the study, three of whom died in intensive care. Only ten of these patients (12.9%) had regular (annual) neuropediatric check-up during the whole study period. Thirty-seven patients (48%) had an annual neuropediatric check-up during the first 2 years only following the diagnosis. Only 12 of the children (15.6%) were still being followed after the age of 6. The children were followed up on average for 2.5 years (29.6 months). In 24 cases (31%), the last medical visit revealed an abnormal neurological examination including multiple disabilities due to spastic quadriplegia and severe intellectual deficit, which led to total dependency in half of these cases. Forty-four patients (57%) had a normal neurological examination. Concerning the babies' social outcome, 50 patients (64.9%) had returned home, 12 (15.6%) benefited, from educational assistance at the patient's home (AEMO) following the ruling of a children's judge, and 19 (24.7%) were still placed in foster care (ASE). The average foster care placement lasted 34.7 months. DISCUSSION AND CONCLUSION: Long-term medical follow-up for children having sustained serious head injury as a result of abuse is inadequate. Sequelae such as multiple disabilities are less frequent than described in the literature. According to this study, a longer-term follow-up is necessary for children suffering from sequelae such as learning disabilities than what is actually possible in our center.

Multiple neurosurgical treatments for different members of the same family with Currarino syndrome.

INTRODUCTION: Currarino's syndrome (CS) is an autosomal dominant disorder of embryonic development causing a rare malformating syndrome characterized by a triad of an anorectal malformations, presacral mass (most commonly an anterior sacral meningocele) and sacral bony defects. Mutations of the HLXB9 gene have been identified in most CS cases, but a precise genotype-phenotype correlation has not been described so far. Family screening is obligatory. The diagnosis is usually made during childhood and rarely in adulthood. In this context, imaging, and especially MRI plays a major role in the diagnosis of this syndrome. Surgical management is provided by pediatric surgeons or neurosurgeons. FAMILIAL CASE REPORT: Here, we present a family case report with CS requiring different neurosurgical management. The son, a 3-year-old boy, developed a tethered spinal cord syndrome associated to a lipoma of the filum terminale, a sacro-coccygeal teratoma and an anal adhesion. A combined surgical approach permitted a good evolution on the urinary and digestive functions despite a persistent fecal incontinence. The 2-year-old daughter presented with a cyst of the thyreoglossal tract infected and fistulized to the skin. She was also followed for a very small lipoma of the filum terminale that required a neurosurgical approach. The father, 44-year-old, manifested functional digestive and urinary disorders caused by a giant anterior sacral meningocele. The ligation of the neck of the cyst and aspiration of the liquid inside in full through a posterior partial approach permit a complete collapse of the cyst with an instantly satisfactory clinical outcome. CONCLUSION: In these cases, cooperation between pediatric surgeons and neurosurgeons was crucial. The follow-up of these patients should be done in a spina bifida clinic. A geneticist evaluation must be offered to the patient in the case of a CS as well as a clinical evaluation of the relatives (parents, siblings).

Selective suppression of excessive GluN2C expression rescues early epilepsy in a tuberous sclerosis murine model.

Tuberous sclerosis complex (TSC), caused by dominant mutations in either TSC1 or TSC2 tumour suppressor genes is characterized by the presence of brain malformations, the cortical tubers that are thought to contribute to the generation of pharmacoresistant epilepsy. Here we report that tuberless heterozygote Tsc1(+/-) mice show functional upregulation of cortical GluN2C-containing N-methyl-D-aspartate receptors (NMDARs) in an mTOR-dependent manner and exhibit recurrent, unprovoked seizures during early postnatal life (

Outcome analysis of childhood pilocytic astrocytomas: a retrospective study of 148 cases at a single institution.

BACKGROUND: Pilocytic astrocytomas (PAs) are characterized by an excellent prognosis although several factors of adverse outcome have been reported. The mitogen-activated protein kinase pathway plays a major role in their tumorigenesis. AIM: To report a series of 148 PAs in children to define clinicopathological and biological prognostic factors. METHODS: Clinical data were collected from patient files and mail inquiry. Pathological specimens were centrally reviewed. The three major KIAA1549:BRAF fusion subtypes were analysed by reverse transcription - polymerase chain reaction (RT-PCR) in a subset of 47 frozen cases and by fluorescence in situ hybridization on formalin-fixed paraffin-embedded tissue in 23 cases. Tumour location, age at surgery, extent of surgical removal, histological subtype and KIAA1549:BRAF fusion by RT-PCR were searched for prognostic significance. RESULTS: Pilomyxoid astrocytoma (PMA) and the hypothalamo-chiasmatic (H/C) location were associated with a worse prognosis [P < 0.001 for overall survival (OS) and P = 0.001 for progression-free survival (PFS)]. Patients who underwent complete surgical excision had a better OS (P = 0.004) and a longer PFS (P < 0.001) than the others. Age was also a strong prognostic factor for OS but not for PFS. Infants (<1 year) and young children (<3 years) had a much worse outcome than the others (P < 0.001 and P = 0.004 respectively). KIAA1549:BRAF fusion status was not predictive of outcome. CONCLUSION: This study highlights the good prognostic factors of PAs but H/C PA remains a subgroup with dismal prognosis associated with young age, PMA variant and incomplete surgery. Search for KIAA1549:BRAF fusion in tumours with PA pattern is recommended even though the prognostic impact is still unclear.

[Subdural empyema complicating meningococcal meningitis: a pediatric observation]. / Empyème sous-dural compliquant une méningite à méningocoque : une observation pédiatrique.

Postmeningitis subdural empyema is rare in infants. It can have a severe clinical course with possible serious long-term consequences and 10% mortality. Diagnosis is often difficult. Postmeningitis subdural empyema must be discussed in cases of atypical progression of well-treated meningitis. We report the case of an 18-month-old infant presenting subdural empyema with an insidious course following Neisseria meningitidis group C meningitis.

[Eyelid approach and pediatric orbital tumors: indications and surgical technique. About three children]. / Voie trans-palpébrale et chirurgie des lésions intraorbitaires pédiatriques : indications et technique chirurgicale. À propos de trois enfants.

Interdisciplinary collaboration can offer unusual approaches for the treatment of orbital pathologies. The authors report their experience with the eyelid incision in treating three children with epidural orbitary hematoma, dermoid cyst of the upper outer quadrant and a dermoid cyst of the internal inferior quadrant. For all the children, removal was complete and cosmetic results satisfying. The authors discuss the indications and complications of this surgical approach.

Influence of clinical and gait analysis experience on reliability of observational gait analysis (Edinburgh Gait Score Reliability).

OBJECTIVES: Treatment complexity of cerebral palsy (CP) patients imposes outcome evaluation studies, which may include objective technical analysis and more subjective functional evaluation. The Edinburgh Gait Score (EGS) was proposed as an additive or alternative when complex instrumented three-dimensional gait analysis is not available. Our purposes were to apply a translated EGS to standard video recordings of independent walking spastic diplegic CP patients, to evaluate its intraobserver and interobserver reliability with respect to gait analysis familiar and not familiar observers. METHODS: Ten standard video recordings acquired during routine clinical gait analysis were examined by eight observers gait analysis interpretation experienced or not, out of various specialities, two times with a two weeks interval. Kappa statistics and intraclass correlation coefficient were calculated. RESULTS: Better reliability was observed for foot and knee scores than in proximal segments with significant differences between stance and swing phase. Significantly better results in gait analysis trained observers underlines the importance to either be used to clinical gait analysis interpretation, or to benefit of video analysis training before observational scoring. CONCLUSION: Visual evaluation may be used for outcome studies to explore clinical changes in CP patients over time and may be associated to other validated evaluation tools.