[Orbitotemporal facial involvement in type 1 neurofibromatosis (NF1)]. / L'atteinte orbito-temporo-faciale dans la neurofibromatose de type 1 (NF1).

Plexiform neurofibromas of the orbit, sometimes extending to the temporal region and the face, are considered to be a rare but devastating and disfiguring complication of neurofibromatosis type 1. The first symptoms appear in infancy and the involvement of the orbit and the face is present in nearly all children after the age of 5. The disease is unilateral in most cases but can exceptionally involve both sides of the face. Progressive deformation of the orbital frame due to the expanding plexiform neurofibroma and buphthalmos occurs in a large proportion of cases. The associated sphenoidal dysplasia, which is thought to be, according to the most recent hypothesis, genetically determined, will inescapably increase the burden to the orbital content, cause pulsating proptosis and will endanger noble structures, finally resulting in loss of vision. Using the Jackson classification, the authors report their personal series of 22 cases (19 operated). Until now, there has been no effective medical treatment for plexiform neurofibroma and surgery remains the standard care for these patients. Controversies remain about the timing of the first operation and today most multidisciplinary teams involving plastic, maxillofacial, ophthalmologic, and neurosurgeons favor early intervention to try to minimize the secondary deformation of the orbital and facial skeleton. A number of cases of plexiform neurofibromas are illustrated within the three Jackson groups and treatment results of the rare elephantiasis neuromatosa cases are presented. Special techniques such as preoperative embolization of heavily vascularized plexiform neurofibroma are also discussed.

[A 6-week-old infant with failure to thrive: insidious presentation of group B streptococcal ventriculitis]. / Stagnation pondérale chez un nourrisson de six semaines : présentation insidieuse d'une ventriculite à streptocoque du groupe B.

Failure to thrive is frequently seen in breastfed infants. The most common diagnosis is insufficiency of breast milk in an otherwise healthy child. However, several differential diagnoses need to be considered. Progressive feeding difficulties and failure to thrive can be the first manifestation of group B streptococcal ventriculitis. This rare disease does not present with acute symptoms of sepsis or meningitis but evolves insidiously with no fever. Diagnosis is therefore often delayed and made only when intracranial hypertension develops. Cerebrospinal fluid (CSF) culture confirming the group B streptococcal infection and cerebral imaging are the necessary investigations for diagnosis. To our knowledge, only 10 cases have been previously reported.

[Treatment of posterior positional plagiocephaly]. / Traitement des plagiocéphalies postérieures d'origine positionnelle.

In 1992, the American academy of paediatrics has recommended that infants be placed on their backs to sleep, because prone sleeping has been correlated with sudden infant death syndrome. Following this article, medical paediatric community has documented an exponential increase in the diagnosis of posterior cranial deformities, which were considered as the consequence of unrelieved pressure onto the occiput during infant sleep. These last 15 years, management of posterior positional plagiocephaly has evolved but is still not standardized; it varies according to local specificities, and medical or parental preferences. Treatment of deformational plagiocephaly includes preventive counseling, repositioning adjustments and exercises, physiotherapy, osteopathy, treatment by dynamic cranial orthosis. On extremely rare occasions, corrective surgery is proposed. This article aims at reviewing the epidemiologic, diagnostic, and various therapeutic options of posterior positional plagiocephaly.

[Phacomatosis and genetically determined tumors: the transition from childhood to adulthood]. / Phacomatoses et tumeurs génétiquement déterminées: la transition enfant-adulte.

Phacomatoses, or neurocutaneous disorders, are a group of congenital and hereditary diseases characterized by developmental lesions of the neuroectoderm, leading to pathologies affecting the skin and the central nervous system. There is a wide range of pathologies affecting individuals at different moments of life. The genetics is variable: while neurofibromatosis 1 and 2, tuberous sclerosis and von Hippel-Lindau disease are all inherited as autosomal dominant traits, Sturge-Weber syndrome is sporadic. Other neurocutaneous disorders can be inherited as autosomal recessive traits (i.e., ataxia-telangiectasia), X-linked (i.e., incontinentia pigmenti) or explained by mosaicism (i.e., hypomelanosis of Ito, McCune-Albright syndrome). In this review, we discuss the major types of neurocutaneous disorders most frequently encountered by the neurosurgeon and followed beyond childhood. They include neurofibromatosis types 1 and 2, tuberous sclerosis, Sturge-Weber syndrome and von Hippel-Lindau disease. In each case, a review of the literature, including diagnosis, genetics and treatment will be presented. The lifespan of the disease with the implications for neurosurgeons will be emphasized. A review of cases, including both pediatric and adult patients, seen in neurosurgical practices in the Lille, France and Lausanne, Switzerland hospitals between 1961 and 2007 is presented to illustrate the pathologies seen in different age-groups. Because the genes mutated in most phacomatoses are involved in development and are activated following a timed schedule, the phenotype of these diseases evolves with age. The implication of the neurosurgeon varies depending on the patient's age and pathology. While neurosurgeons tend to see pediatric patients affected with neurofibromatosis type 1, tuberous sclerosis and Sturge-Weber syndrome, there will be a majority of adult patients with von Hippel-Lindau disease or neurofibromatosis type 2.

Posterior positional plagiocephaly treated with cranial remodeling orthosis.

PRINCIPLES: Since the recommendation that infants sleep in the supine position, there has been an increase in cases of posterior positional plagiocephaly. Even though this condition is a purely cosmetic problem, if it is severe it may affect the child psychologically. Positioning may help in mild or moderate cases, but more active treatment may be necessary in severe cases. METHODS: A prospective study of 260 children treated by dynamic orthotic cranioplasty for posterior positional plagiocephaly was conducted in Lausanne from 1995 to 2001. Construction of these cranial remodelling helmets is decribed in detail. RESULTS: The treatment lasted 3 months on average, was effective, well tolerated, and had zero morbidity. The ideal period for initiating this therapy is between the ages of 4 and 6 months. CONCLUSION: The remodelling helmet is a convincing option which can be recommended in infants with posterior positional plagiocephaly whose skull deformity is not satisfactorily corrected by physiotherapy. It should always be used before surgery is considered for patients with recognised positional plagiocephaly in the first year of life.

Third ventriculostomy vs ventriculoperitoneal shunt in pediatric obstructive hydrocephalus: results from a Swiss series and literature review.

INTRODUCTION: Few series compare endoscopic third ventriculostomies (ETV) and ventriculoperitoneal shunts (VPS). To avoid the complications after a shunt insertion, there is an increased tendency to perform a third ventriculostomy. We reviewed all pediatric patients operated in the French-speaking part of Switzerland for a newly diagnosed obstructive hydrocephalus since 1992 and compared the outcome of patients who benefited from ETV to the outcome of patients who benefited from VPS. There were 24 ETV and 31 VPS. DISCUSSION: At 5 years of follow-up, the failure rate of ETV was 26%, as compared to 42% for the VPS group. This trend is also found in the pediatric series published since 1990 (27 peer-reviewed articles analyzed). CONCLUSION: In accordance to this trend, although a statistical difference cannot be assessed, we believe that ETV should be the procedure of choice in pediatric obstructive hydrocephalus.

Growing skull fractures.

INTRODUCTION: Growing skull fractures are a rare complication of head injuries (Ersahin et al. in Neurosurg Rev 23:139-144, 2000; Hayashi et al. in Childs Nerv Syst 13:349-351, 1997; Ramamurthi and Kalyanaraman in Neurosurgery 32:427-430, 1970; Zegers et al. in Eur J Pediatr 162:556-557, 2003). Although early diagnosis and prompt treatment are important to prevent the underlying progressive brain damage, the clinical presentation and the morphological investigations are rarely specific or sensitive shortly after the trauma. DISCUSSION: The authors present three cases of growing skull fractures: the use of ultrasonography (US) via the fracture line contributed to early diagnosis and prompt treatment in two cases. US was not performed in the third case, and this delayed management. Treatment consisted of a watertight duraplasty with a free flap of pericranium without cranioplasty. US via the fracture line appears to be a sensitive and reliable method of detecting the dural tears in the early stages of growing skull fractures. CONCLUSION: Duraplasty alone with a flap of pericranium remains the simplest and least expensive method of treatment. Cranioplasty is not necessary in young children.

Early surgery for brainstem cavernomas.

BACKGROUND: The purpose was to review our experience with the surgical management of brainstem cavernomas (BSCs) and especially the impact of the surgical timing on the clinical outcome. METHOD: We retrospectively reviewed 22 patients harboring a BSC, who underwent 23 procedures. FINDINGS: Surgery was carried out during the early stage after the last haemorrhage, with a mean delay of 21.6 days (range 4-90 days). Sixteen procedures were performed after a first bleeding event while seven after multiple bleedings. Complete resection was achieved in 19 patients (86.4%). Early after surgery, 12 patients (52.2%) improved neurologically, 5 (21.7%) were stable and 6 (26.1%) worsened. New postoperative deficits were noted after 9 procedures (39.1%). Statistically significant factors for postoperative aggravation were: late surgery (P = 0.046) and multiple bleedings (P = 0.043). No patient operated on within the first 19 days after bleeding did worsen (n = 11), as opposed to 6 out of 12 who did when operated on later. After a mean follow-up of 44.9 months, 20 patients (90.9%) were improved, 1 patient (4.6%) was worse and 1 patient was lost to follow-up (4.6%), after reoperation for rebleeding of a previously completely resected cavernoma. Late morbidity was reduced to 8.6%. The mean Glasgow Outcome Scale (GOS) at the end of the follow-up period was 4.24, compared to a mean preoperative GOS of 3.22 (P<0.001). Complete neurological recovery of motor deficits, sensory disturbances, cranial nerves (CNs), internuclear ophtalmoplegia and cerebellar dysfunction were respectively 41.7%, 38.5%, 52.6%, 60.0% and 58.3%. Among the most affected CNs: CN 3, CN 5 and CN 7 were more prone to completely recover, respectively in 60.0%, 70.0% and 69.2%. CONCLUSIONS: Surgical removal of BSCs is feasible in experienced hands with acceptable morbidity and good outcome. Early surgery and single bleeding were associated with better surgical results.

Occipital condyle fractures in children. Case report and review of the literature.

Occipital condyle fractures (OCF) are seldom described in children, with only 14 cases reported in the literature. We report the observation of a 13-year-old child in whom such a fracture was diagnosed. A review of the paediatric cases allowed us to identify the clinical features of OCF in children. The average age was found to be 10 years, and the causative traumatism was most often related to road traffic or sporting accidents with associated head injury. The level of consciousness was depressed in 67% of the cases, and in 53%, an injury to the cranial nerves, brain stem or high spinal cord was present. Neck pain with reduction of head mobility was reported in 27% of the cases. Treatment was generally conservative, i.e. a hard collar or halo vest for an average of 8 weeks. The course was favourable with respect to osseous consolidation, mobility and pain. On the other hand, the neurological deficits improved, but sequelae remained. Early diagnosis and treatment is mandatory since the secondary displacement of fractured fragments can injure the cranial nerves in a delayed fashion or even be fatal due to compression of the brain stem.

[Transthoracic transvertebral approach for resection of an anteriorly located, calcified meningioma. Case report]. / Abord transthoracique transvertébral pour résection d'un méningiome calcifié de situation antérieure. A propos d'un cas.

We report the case of a 61-year-old woman, who developed progressive paraparesia over a period of 8 months. Conventional X-rays of the thoracic spine showed an intra-spinal calcified lesion at T10. On CT-scan and MRI, the lesion appeared anterior to the cord, thus making a posterior approach hazardous. Total resection of this calcified meningioma was achieved through a right transthoracic transcorporeal approach, under close monitoring of the somatosensory evoked potentials. Despite a delayed pseudomeningocele formation requiring an additional thoracotomy, outcome after 7 years is excellent with no residual neurological deficit. No recurrence was seen on a CT-scan performed two years after the surgery. Calcified anterior meningiomas of the spine are rare lesions. Surgical outcome has been unfavorable for a long time in relation with posterior or postero-lateral approaches. Although anterior transthoracic procedures are routinely performed for extradural spinal lesions, this approach is rarely used for intradural lesions. A calcified anterior spinal thoracic meningioma should be managed like the more frequent calcified thoracic disk hernia, despite the increased risk of cerebrospinal fluid effusion requiring subsequent repair.

Neurocysticercosis: migration and proliferation of cysticercus in a CSF valve.

A case of colonization of a CSF shunt device by racemous cysts during a long lasting course of neurocysticercosis is reported.

Three-dimensional spiral CT of craniofacial malformations in children.

OBJECTIVE: To assess the value of three-dimensional CT (3D CT) in the diagnosis and management of suspected paediatric craniofacial malformations. MATERIALS AND METHODS: Twenty-eight children (12 girls, 16 boys) with a mean age of 4 years, suffering from craniofacial or cervical malformations, underwent craniofacial spiral CT. 3D reformatting was performed using an independent work-station. RESULTS: 3D CT allowed the preoperative evaluation of 16 patients with craniosynostosis and the post-surgical management of 2 patients. 3D CT clearly depicted malformations of the skull base involving the petrous bone in seven patients (four cases of Goldenhar-Gorlin syndrome, one case of Treacher-Collins syndrome and two cases of Crouzon's disease). Four patients with craniofacial clefts were also evaluated. Radiological findings were confirmed by the clinical and intraoperative findings in all patients that underwent surgical treatment. Movement artefacts and "Lego effect" related to abrupt change of cranial vault border were encountered and are discussed. CONCLUSIONS: 3D CT of the skull can safely and reliably identify paediatric craniofacial malformations involving bone, and it should be used as morphological mapping to help the surgeon in planning surgical treatment.

Gliomas in children: a review.

The management and prognosis of gliomas are significantly different in children and in adults. Fortunately, the proportion of gliomas that are malignant is smaller in children than in the adult population. The different types of gliomas encountered in the pediatric population are reviewed, taking account of the most recent contributions on this subject. The importance of considering both localization and histological classification for better definition of the prognostic factors of each subgroup is emphasized. A brief review of the possible causes of gliomas is presented. Unfortunately, the information obtained by molecular and genetic study of these tumors has still not resulted in anything that can help the children suffering from gliomas in a concrete way. Surgery, with all its recent refinements, remains the best treatment for the majority of benign gliomas providing they can be removed without unacceptable sequelae. The role of chemotherapy has emerged recently for the treatment of nonresectable low-grade gliomas, such as hypothalamic-chiasmatic tumors, especially for infants, in whom the adverse effects of radiotherapy can be severe and irreversible. On the eve of the new millennium, there is renewed hope that the problem of malignant gliomas will be solved in the not-too-distant future.

Craniofacial reconstruction of a giant cystlike temporal encephalocele.

A 4-year-old girl underwent craniofacial reconstruction for giant cystlike encephalocele deriving from the temporo-maxillary region and giving impression of the duplicated head. The case of temporal encephalocele in this report is especially unusual in the extent of encephalocele, the degree to which it had expanded the zygomatic arch, mandible, cranial vault, and the radiologically undetectable bony defect. The use of craniofacial principles in the resection and reconstruction of the temporal encephalocecle are described.

Acute haemorrhagic presentation of an intracranial meningioma.

Acute haemorrhagic presentation of a meningioma is an extremely rare event. In a review of the literature, 44 such cases were found and only eight of them presented with sudden onset of coma. The outcome in these eight cases was, with few exceptions, poor. We report the case of a 72-year-old woman who presented with sudden onset of coma due to a massive haemorrhage into a frontal meningioma. The diagnosis was suspected on the basis of a non-enhanced computed tomographic (CT) scan and considering the clinical status of the patient, emergency evacuation of the haematoma and complete macroscopic resection of the tumour was performed without further diagnostic procedures. The patient fully recovered. Clinical examination and contrast enhanced CT scan at 3 months follow-up were considered normal. The prognosis for haemorrhagic presenting meningiomas is poor especially for those presenting with acute onset of coma. The outcome seems to be improved with rapid decompression and tumour removal. We would like to stress the need to keep the diagnostic procedures to a minimum once a haemorrhagic decompensating meningioma is suspected despite the risks associated with an incomplete radiological work up before surgery. Complete or at least gross tumour removal at the time of emergency surgery seems to be associated with a better outcome and should be attempted in all patients, even those presenting with acute signs of herniation.