Non-dysraphic intramedullary spinal cord lipoma of the child: Report of 3 cases.

BACKGROUND AND PURPOSE: Non-dysraphic intramedullary spinal cord lipomas (NDSCL) represent 1% of spinal cord tumors. They are less frequent than dysraphic spinal cord lipomas and clinical presentation is unspecific. There are no guidelines on surgical management. MATERIAL AND METHODS: We report three observations of NDSCL in children, focusing on the clinical presentation, surgical management and postoperative outcome. RESULTS: The patients, one female and two males, aged from 5 months to 10 years presented with neurological deterioration, pain, spinal rigidity and in two cases, a subcutaneous mass. Spinal MRI found intradural lipomas without spina bifida, located in the cervico-thoracic area in all cases. The lipoma extended to the medulla oblongata in two cases and was in the lumbar region in the third. These lipomas were massive, requiring decompression surgery. Surgery confirmed the lipoma to be subpial. We performed debulking of the lipoma without attempting total resection, and with or without dural plasty and laminoplasty, followed by minerva cast in two cases, and avoidance of standing in the youngest. Satisfactory recovery occurred in all three cases. After a follow-up between 4 months and 9 years, the outcome was favorable in all cases, and no patient presented with secondary spinal deformation or lipoma progression. CONCLUSION: NDSCL is a rare entity, which often manifests with progressive pain and neurological deficits. In our experience, partial resection with or without dural plasty and laminoplasty has been associated with satisfactory postoperative outcomes and no recurrence of symptoms. We should be attentive to the risk of postoperative spinal deformity in these young patients.

Is malignant edema and hemorrhage after occlusion of high-flow arteriovenous malformation related to the size of feeding arteries and draining veins?

OBJECTIVE: Our study aimed to identify predictive factors for malignant post-treatment edema and hemorrhage in patients who underwent microsurgical treatment of arteriovenous malformation (AVM) in our institution. METHODS: The study included 72 patients treated by microsurgery for cerebral symptomatic and/or ruptured AVM between 2010 and 2020. Six patients developed postprocedural malignant edema and hemorrhage (group M); the other 66 patients had no malignant edema and hemorrhage (group NM). In each patient, flow was assessed indirectly by summing the diameters of all feeding arteries to obtain an overall diameter (ODA), and similarly for draining veins (ODV). High-flow was defined as a delay between feeding artery injection and draining vein injection (DAV)<1 second on dynamic digital subtraction angiography. Univariate analysis was performed. RESULTS: Mean ODA and ODV were respectively 11mm (±8.2) and 11mm (±5.3) in group M and 2.9mm (±1.4) and 3.7mm (±1.3) in group NM (P=0.001). High-flow AVM was demonstrated in 4 out of 5 patients (85%) in group M and in 14 out of 55 (25%) in group NM (P=0.02). Associated aneurysm was seen in 5 patients in group M (83%) and in 11 in group NM (17%) (P=0.001). CONCLUSION: High-flow AVM may be associated with higher risk of postoperative edema and hemorrhage. Multidisciplinary discussion is mandatory in these cases, to define a pre-therapeutic plan for progressive staged vascular malformation occlusion.

Spontaneous disappearance of brain arteriovenous malformation: A case series.

OBJECTIVE: Brain arteriovenous malformation (BAVM) is defined as abnormal communication between cerebral of arteries and veins, without capillaries. Clinically, it may involve intracranial hemorrhage or seizures. Complete spontaneous resolution, known as BAVM disappearance, has been reported in rare cases. METHODS: We retrospectively collated all cases of BAVM in Lille University Hospital, from 2005 to 2018, and identified all cases of spontaneous BAVM disappearance on angiography (nidus and early venous drainage). RESULTS: There were 4 cases of spontaneous BAVM disappearance, in 3573 patients: i.e., prevalence of 0.1%. Sex ratio was 2:2; ages ranged from 14 to 46 years; nidus size was generally small (<20mm); 3 of the 4 patients had superficial venous drainage. Revelation of BAVM was by hemorrhage in 3 cases and by seizure in 1. There were no cases of recanalization at 1 year's follow-up. CONCLUSION: Spontaneous BAVM disappearance is rare. Associated factors may include small nidus, superficial venous drainage and hemorrhage.

Medulloblastoma: Clinical presentation.

Medulloblastomas present generally a-specifically as a fast-evolving posterior fossa tumor. Medical literature is poor concerning clinical features of medulloblastomas and their potential significance. In the present study, we reviewed 91 pediatric observations of medulloblastomas treated in Lille between 1997 and 2017. Clinical and epidemiological variables were collected and intercorrelated. They were also compared with anatomical and pathological findings, and outcome, with the aim of defining clinical-pathological entities. We also compared the group with 32 cases of posterior fossa ependymoma and 130 cases of cerebellar astrocytoma treated during the same period. We found that in medulloblastomas, the M/F ratio was higher and diagnostic delay was shorter than in astrocytomas. Also, the mean age was older than in ependymomas. Intracranial hypertension was constant; we further observed that altered general status was common (16.5%) and correlated with a metastatic tumor. We delineated two clusters: the "nodular" cluster, which associates young age, cerebello-pontine angle tumor, herniation, desmoplastic tumor, and tumor predisposition syndrome; and the "metastatic" cluster, which associates altered status, initial metastases, hydrocephalus, and diagnostic delay. Meticulous collection of clinical data at the initial phase is integral part of the oncological evaluation, with a search for genetic and prognostic risk factors, which then permits us to define clinical-pathological entities.

What remains of non-syndromic bicoronal synostosis?

More and more genetic syndromes are associated with bicoronal synostosis (BCS), making non-syndromic BCS (NSBCS) a shrinking entity. However, the numerical importance and clinical impact of syndromic BCS (SBCS) versus NSBCS have not been much studied. We retrospectively reviewed our experience with BCS over the last four decades in order to compare prevalence trends in SBCS and NSBCS. 195 patients were treated for BCS during the period 1978-2017: 104 (53.3%) were syndromic, 24 (12.3%) showed clinical and/or familial features suggesting a syndrome, although without final diagnostic confirmation, and 7 (3.5%) had associated extra-cranial malformations suggesting a syndromic context without identified genetic mutation; the remaining 61 (31.3%) were purely NSBCS. Surgery was required earlier in SBCS (21.7months, 95%CI 18.4-25.1) than in NSBCS (29.5months 95%CI 26.4-32.7). Prevalence of hydrocephalus and tonsillar herniation was significantly lower in NSBCS, and mortality concerned only SBCS. Prevalence of NSBC decreased significantly over the study period, likely because of more accurate testing, and decreased slightly over the last decade, possibly because of prenatal testing and abortion. NSBCS is now much less common than SBCS, and has a less aggressive clinical course, with lower rates of hydrocephalus, tonsillar herniation and mortality. This subgroup also deserves attention because it is likely that new discoveries are still to be made.

The metopic suture: Natural history.

The metopic suture (MS) is one of the main sutures of the calvaria; premature closure is responsible for trigonocephaly, while persistence (metopism) is considered a normal variant. The ages of onset and completion of MS closure and prevalence of metopism in normal children are poorly documented. We studied the pattern of MS closure on 3D-CT scans of 477 children admitted for head trauma since 2012. We also studied the prevalence of trigonocephaly and the sex ratio in our clinical series of patients with all types of synostosis diagnosed during the last 4 decades. In the majority of children, MS closure started at 4 months and was complete at 9 months. The prevalence of metopism was stable after 1 year of age, at 5.1%; it was more than twice as frequent in girls (F/M ratio 2.1, non-significant). Our trigonocephaly series and the literature show a steady increase in prevalence over recent decades. During the same period, the prevalence of metopism decreased steadily. Data from comparative anatomy and paleoanthropology suggest that postnatal MS persistence in our species results from the risk of dystocia caused by the closed pelvis associated with bipedalism. The increasing incidence of trigonocephaly appears to parallel the fall in prevalence of metopism. The increasing use of cesarean section may have eliminated a potent selection factor in favor of postnatal persistence of the MS.

Grade 1 Spetzler and Martin cerebral ruptured arteriovenous malformations treated by microsurgery: Poor functional outcome is related to injury from haemorrhage.

INTRODUCTION: Ruptured arteriovenous malformations (rAVM) are life-threatening diseases. OBJECTIVE: To evaluate the outcome of patients with grade 1 SPM rAVM after microsurgical treatment. MATERIALS AND METHOD: We retrospectively included 64 consecutive operated patients with a grade 1 SPM rAVM in our institution between 2002 and 2012. Complications related to the surgical procedure were recorded. All patients were re-evaluated 3months after treatment using the modified Rankin Scale score (mRS). Persistent neurological disorders were evaluated 1year after bleeding. Conventional cerebral angiography was performed for each patient immediately after surgical treatment and 1year later. RESULTS: The mean age at diagnosis was 30.8 years. Initial WFNS score was grade 1 in 25 patients, grade 2 in 11 patients, grade 3 in 10 patients, grade 4 in 9 patients and grade 5 in 9 patients. No remnant was left and a new surgery was performed only in a single patient who was initially operated-on under emergency conditions with limited preoperative investigations due to a poor clinical grade. Early postoperative complications related to the surgical procedure were recorded in 7 patients. The mRS score 3months after treatment was ≤2 in 53 patients (83%). Persistent neurological disorders were recorded in 40 patients (62.5%). High initial WFNS score (>2) and the hydrocephalus were significantly associated (P<0.05) to a bad functional outcome (mRS>2). CONCLUSION: Grade 1 rAVM is a life-threatening disease concerning in most cases young patients. Long-term morbidity is often related to the hemorrhagic brain damage and rarely to the AVM resection.

[Non syndromic craniosynostosis]. / Les craniosténoses non syndromiques.

Craniosynostosis are rare congenital malformations of the skull resulting from the premature fusion of one or several cranial sutures. Prevalence is considered in approximately 1 on 2000 births. Non syndromic craniosynostosis (NSC) or isolated form are the most frequent forms (85 % of the cases). They are classified most of the time according to the synostotic suture(s) and the engendered cranial deformation: sagittal synostosis or scaphocephaly, metopic synostosis or trigonocephaly, bicoronal synostosis or brachycephaly, coronal synostosis or plagiocephaly and oxycephaly. Although the multifactorial origin is commonly admitted, the precise mechanisms which lead to the premature fusion of a suture, remain incompletely resolute. The main risks are the intracranial high blood pressure and its consequences on the psychomotor development, the visual or respiratory infringement which can require a surgery in emergency. The treatment is realized by multidisciplinary teams allowing to provide a strategy adapted to every situation. The decision-making process depends on patient's age, on the type and severity of the craniosynostosis, and on the patient's health. This surgery is ideally performed before the age of 1 year and indication only in morphological purpose is widely recognized to avoid any social damage to the child. The follow-up is essential and is made throughout the growth in particular to detect a recurrence or the evolution towards a complex form of craniosynostosis.

[Rational use of distraction osteogenesis in craniofacial surgery]. / Utilisation rationnelle de la distraction osseuse en chirurgie craniofaciale.

Distraction osteogenesis, initially developed by Ilizarov for limb, is the tissular extension caused by the progressive space of the osseous pieces following an osteotomy. Distraction is osteogenesic and histogenic. Twenty-five years ago, at the instigation of McCarthy, this technique was used to handle the craniofacial malformations in the various floors of the face : mandibular, mediofacial and cranial. The most wide-spread protocols respect a latency period from 0 to 7 days, a rhythm of distraction from 1 to 2mm a day in 2 at 4 times and a period of consolidation from 4 to 8 weeks. Distraction is the result of the inventiveness of the pioneers then the work to always adapt to the multiple complex clinical situations. The surgeon has to choose between internal or external materials allowing a mono- or multi-vectorial extension, in osseous and/or dental anchoring. The mandibular distraction is very effective for the treatment of the secondary obstructive syndromes in the unilateral or bilateral severe hypomandibular malformations. She also allows desobstruction of the superior airways within the framework of the mediofacial hypoplasies as well as the secondary treatment of the growth defects in cleft lips and palates. Finally, the distraction osteogenesis enhanced reliability of the fronto-facial advancement in early and secondary treatment of craniofaciosynostosis. This is a real support of the facial growth, which has to be included in a plan of global treatment.

Endonasal endoscopic approach for removal of intranasal nasal glial heterotopias.

BACKGROUND: Nasal Glial Heterotopias also called Nasal Gliomas (NG) are rare congenital tumours of the midline frontonasal space arising from a normal neurectodermal tissue entrapped during the closure of the anterior neuropore. Historically, such tumours were approached using a frontal craniotomy. The study aims to evaluate a fully endonasal endoscopic approach for intranasal NG removal. METHODS: We report a retrospective study of intranasal and mixed NG treated using endonasal endoscopic techniques and computer assisted navigation system from 1997 to 2010 in two tertiary referral centres of Paediatric Otolaryngology. All tumours were investigated using two imaging modalities: craniofacial MRI and CT-scan. RESULTS: Fifteen patients were included (0 to 14 years of age). All tumours were totally removed and no recurrence was observed after a mean follow-up of 32 months. A skull base plasty was done in 13 cases to cover a bony defect or to treat a cerebrospinal leak. Nasal packing was usually removed 24 hours after surgery and all children were discharged home after 2 to 4 days. CONCLUSION: Removal of intranasal NGs using an endonasal endoscopic approach and a dedicated computer assisted navigation system is a safe and efficient procedure. Early management is recommended to treat neonatal airway obstruction.

[Haemophilia A and intracranial bleedings in infants]. / Hémophilie A et saignements intracrâniens du nourrisson.

BACKGROUND AND PURPOSE: Haemophilia is a well-known X-linked recessive bleeding disorder related to a deficiency of factor VIII. The aim of the paper is to point out the role of an early diagnosis in cases of intracranial bleeding, especially in neonates and to highlight the bad prognosis. METHODS: Three patients were included in the study from our prospective data. All had severe factor VIII deficiency (less than 1%). RESULTS: The first of them was a newborn without familial history of haemophilia which presented with hypotonia and seizures after a delivery with vacuum. CT showed a subdural haematoma and MRI multiple ischemic lesions. Two months later, he died from a new intracranial haemorrhagic episode resistent to infusion of factor VIII related to development of an anti-factor VIII antiboby. The second neonate had no familial history more and experienced hypothermia and areactive mydriasis because of an acute subdural haematoma. He died eight days later of ischemic lesions in spite of a craniotomy. The third was a 5-month-old boy with a familial history. Physical examination revealed lethargy, seizure and a recent cranial perimeter increase. He underwent a craniotomy with a good result. CONCLUSION: The authors stress the need for immediate factor VIII infusion and appropriate neurosurgical work-up. The rapid medical management is mandatory if morbidity and mortality are to be minimized.

[Two children with cerebral and retinal hemorrhages: do not diagnose shaken baby syndrome too rapidly]. / Association hémorragies cérébrales et rétiniennes chez 2 enfants : ne pas conclure trop vite au diagnostic d'enfant secoué.

We report on 2 cases associating retinal (RH) and cerebral hemorrhages (CH), which first suggested the diagnosis of shaken baby syndrome (SBS). After an etiologic search, the diagnosis was corrected: the first case was a late hemorrhagic disease of the newborn and the second case hemophilia A. RH is a major feature of SBS, although not pathognomonic. There is no specific RH of SBS but they usually affect the posterior retinal pole. Typically, RHs of SBS are present in both eyes, although unilateral RHs do not exclude the diagnosis of SBS. The relationship between RH and CH has been reported in SBS but also in other diseases. Thus, one must search for hemostasis abnormalities, even though the clinical presentation suggests SBS. Ignoring SBS as well as coming to the conclusion of SBS too quickly should be avoided. Diagnostic difficulties may be related to the number of physicians involved and their interpretation of the facts. These 2 cases underline the need for working as a team that includes hematologists able to interpret coagulation parameters.

[Tumors of the lateral ventricle in child: characteristics and specificities]. / Tumeurs du ventricule latéral de l'enfant: particularités et spécificités.

Tumors of the lateral ventricle are not as rare in children as in adults and present complex problems which are to be dealt with often in a context of emergency, on account of their large size and the risk of life-threatening bleeding in a small child. Their diagnostic features are different in children, especially in infants and even more so in the fetus. The main surgical problems are the risk of bleeding and of hydraulic complications. From an oncological perspective, the main tumor types are choroid plexus tumors, subependymal giant-cell astrocytoma, and low-grade gliomas. The developmental outcome of these patients is often poor, on account of severe intracranial hypertension and young age at diagnosis.

[Vascular lesions of the orbit in children]. / Pathologies vasculaires de l'orbite de l'enfant.

Vascular lesions of the orbit in children are most often hemangiomas and lymphangiomas. Hemangioma is a tumor that tends toward spontaneous regression. Lymphangioma is a malformation that tends to increase in size with growth spurts that can occur until adulthood. The treatment is decided according to the functional impact.

[Diffuse intrinsic brain stem glioma in children: current treatment and future directions]. / Gliomes infiltrants du tronc cérébral chez l'enfant : traitement actuel et perspectives.

Despite the numerous clinical trials undertaken, the prognosis of children with diffuse brain stem glioma remains very poor. This review examines the different strategies for the treatment of malignant brain stem glioma such as radiation therapy, concurrent radiochemotherapy, and classical cytotoxic drugs, with a particular focus on the novel targeted and antiangiogenic drugs recently introduced in pediatric oncology. The strategy using integrin inhibitors is discussed.