Incomplete penetrance of the predisposition to medulloblastoma associated with germ-line SUFU mutations.

Methods And Results: Germline SUFU mutations were identified in two families with several children under 3 years of age diagnosed with medulloblastoma. All medulloblastomas in which the histology was reviewed were of the desmoplastic subtype, including three with the rare extensive nodularity subtype. In both families, the mutation detected in the SUFU gene was a frameshift mutation.

Parental smoking, maternal alcohol, coffee and tea consumption during pregnancy and childhood malignant central nervous system tumours: the ESCALE study (SFCE).

Parental smoking and maternal alcohol and caffeinated beverage consumption are prevalent exposures which may play a role, either directly or through their influence on metabolism, in the aetiology of childhood malignant central nervous system (CNS) tumours. The hypothesis was investigated in the Epidemiological Study on childhood Cancer and Leukemia ESCALE study, a national population-based case-control study carried out in France in 2003-2004. The study included 209 incident cases of CNS tumours and 1681 population-based controls, frequency matched with the cases by age and sex.

[Epilepsy and focal lesions in children. Surgical management].

Epilepsy surgery has gained a large role in the treatment of intractable seizures in the last few decades because of the development of operative techniques and better identification of the cerebral anomalies using electrophysiological recordings and neuroimaging. A series of 419 children, aged from five months to 15 years, with epilepsy (medically refractory in 85.5% of them) associated with focal cortical lesions, who underwent surgery between 1986 and 2006 was analyzed to identify the factors that correlated with outcome.

Pediatric craniopharyngiomas: classification and treatment according to the degree of hypothalamic involvement.

Object: The current treatment of craniopharyngiomas is evolving into one of a multimodal approach in which the aim is disease control and improved preservation of quality of life (QOL). To date, an appropriate classification system with which to individualize treatment is absent. The objectives of this study were to identify preoperative prognostic factors in patients with craniopharyngiomas and to develop a risk-based treatment algorithm.

[Focus on Dandy-Walker malformation].

The aim of this review is to summarize our knowledge about Dandy-Walker malformation (DWM) and introduce recent notions about its prognosis. DWM is a malformation associating hypoplasia of the vermis, pseudocystic fourth ventricle, upward displacement of the tentorium, torcular and lateral sinuses and anterio-posterior enlargement of the posterior fossa. It is frequently associated with genetic anomalies, brain malformations (anomalies of gyration, grey matter heterotopias, meningoceles, corpus callosum agenesis.

Non-penetrating deep sclerectomy for glaucoma associated with Sturge-Weber syndrome.

Purpose: To report the results of non-penetrating deep sclerectomy (NPDS) in the treatment of glaucoma associated with Sturge-Weber syndrome (SWS).

Methods: We carried out a retrospective case series analysis of patients who underwent NPDS for glaucoma associated with SWS between 1998 and 2003. The control of glaucoma after NPDS, the results of surgery on intraocular pressure, the need for additional medical treatment and surgical complications were studied.

Late rapid deterioration after endoscopic third ventriculostomy: additional cases and review of the literature.

Object: Late rapid deterioration after endoscopic third ventriculostomy (ETV) is a rare complication. The authors previously reported three deaths from three centers. Three other deaths and a patient who experienced rapid deterioration have also been reported.

Treatment of suprasellar cysts and patient outcome.

Object: The authors sought to determine the natural history of and optimal treatment for suprasellar cysts (SSCs).

Methods: Three hundred forty-two patients harboring intracranial cysts presented to the authors' neurosurgery unit between January 1986 and August 2004. The patients' records were reviewed to assess symptomatology, results of imaging studies, and outcome according to mode of treatment.

Failure of third ventriculostomy in the treatment of aqueductal stenosis in children.

Object. The goal of this study was to analyze the types of failure and long-term efficacy of third ventriculostomy in children. Methods.

Neurenteric cysts in children: 16 consecutive cases and review of the literature.

Object: The authors of this retrospective review and analysis of the literature cover an institutional series of neurenteric cysts of the central nervous system in children treated in the magnetic resonance imaging era during a 14-year period.

Methods: Sixteen patients 20 days to 14 years of age are described. The most frequent signs and symptoms at presentation were acute spinal cord compression (11 patients), paresis of a cranial nerve (two patients), meningitis or infection (two patients), and intracranial hypertension (one patient).

Surgical implications of the thickened pituitary stalk accompanied by central diabetes insipidus.

Object: The authors discuss the indications for and timing of a diagnostic neurosurgical procedure in children with diabetes insipidus (DI) and a thickened pituitary stalk (TPS) on magnetic resonance (MR) imaging.

Methods: Seven children with a TPS who presented with DI eventually underwent surgery for diagnostic purposes. The ages at onset of DI were 6 to 16 years, and the follow-up period until surgery was 26.

Preoperative chemotherapy in children with high-risk medulloblastomas: a feasibility study.

Object: The authors set out to evaluate the feasibility and effectiveness of preoperative chemotherapy in treating high-risk medulloblastomas.

Methods: Between 1997 and 2000, 21 children with high-risk medulloblastomas (M > or = 2 and/or T3b/T4 according to the Chang classification) were treated consecutively in a pilot study. The protocol began with treatment of the hydrocephalus and confirmation of the diagnosis.

Craniopharyngioma: the pendulum of surgical management.

Background: For a long time, craniopharyngiomas have been considered surgically attractive tumours. The fact that they are rare, histologically benign, and located in a challenging (but considered accessible) area made them worthy surgical prizes.

Methods: As we have saved vision and "cured" many of these tumours, the insidious and devastating effects on quality of life for these children has become evident.

Social and psycho-intellectual outcome following radical removal of craniopharyngiomas in childhood. A prospective series.

Background: A prospective study on childhood craniopharyngiomas (CPs) was conducted from 1994 to 1998 to appreciate the pre- and postoperative clinical, endocrine, mental, and intellectual status of the patients and to determine the incidence and severity of the postoperative hypothalamic syndrome.

Methods: The series included 14 consecutive CPs. Twelve were retrochiasmatic and intraventricular, and two were partly prechiasmatic and extraventricular.

Spontaneous regression of congenital spinal lipomas of the conus medullaris. Report of two cases.

Spinal lipomas of the conus (SLCs) are relatively common closed neural tube defects. Many of these lesions are treated surgically at the time of diagnosis and, therefore, little has been documented about their true natural progression. In addition, the changes, if any, of SLCs in pediatric patients have not been widely studied or documented using magnetic resonance (MR) imaging.

Association of a fetal quadrigeminal cyst with a possibly congenital thalamic astrocytoma.

Case Report: This article reports on the exceptional association of a fetal quadrigeminal malformative cyst with a possibly congenital pilocytic astrocytoma of the pulvinar. Both the cyst and the tumor required treatment due to their postnatal growth.

Discussion: Treatment modalities and difficulties are emphasized, as well as the difficulties of prenatal counseling.

Skin markers of occult spinal dysraphism in children: a review of 54 cases.

Objectives: To verify the diagnostic value of lumbosacral midline cutaneous lesions in asymptomatic children to detect occult spinal dysraphism (OSD) and to propose a practical approach for clinical investigations with respect to the type of cutaneous lesions observed.

Design: Retrospective study of 54 children referred to the Department of Pediatric Dermatology between 1990 and 1999 for congenital midline lumbosacral cutaneous lesions.

Setting: The private or institutional practices of participating dermatologists and pediatricians.

Conservative management of asymptomatic spinal lipomas of the conus.

Objective: The natural history of spinal lipomas of the conus (SLCs) has not been well studied. Because of disappointing long-term results with early surgical treatment of asymptomatic children with SLCs, we have followed a protocol of conservative management for these patients. The results are presented in this report.

Ophthalmologic findings in suspected child abuse victims with subdural hematomas.

Purpose: Shaken baby syndrome consists of intracranial and intraocular hemorrhages in young children in the absence of signs of direct head trauma. Because it has major medicolegal implications, it must be distinguished from accidental trauma. This study aimed to determine the ophthalmologic manifestations and their natural course in child abuse victims and whether ophthalmologic examination can help to distinguish shaken babies from children with accidental impact head trauma.

Dandy-Walker malformation: prenatal diagnosis and prognosis.

Introduction: The difficulty in prognosticating the clinical and intellectual outcome of fetuses presenting with a Dandy-Walker malformation (DWM) comes from the great variety of cystic, median, and retrocerebellar malformations that probably have nothing in common and the variability of the definitions given to these lesions. In addition, many of these lesions can mimic each other. A correct diagnosis cannot be made without a good quality MRI including sagittal views of the vermis and T2-weighted images.

Malformative intracranial cysts: diagnosis and outcome.

Introduction: Prenatal investigations make it possible to follow up malformative intracranial cysts from their detection in utero through the postnatal period. By including those that will remain silent postnatally, precious information can be provided about their real natural history.

Diagnosis: Contrary to common belief, the vast majority of these lesions, if not associated with other fetal anomalies, are benign in nature, remain clinically silent, do not evolve or even frequently regress spontaneously.

Prenatal diagnosis of diastematomyelia.

Introduction: Diastematomyelia, also termed split cord malformation, is a form of occult spinal dysraphism characterized by a cleft in the spinal cord. Prenatal diagnosis of this anomaly is possible by ultrasonography (US), and fetal MRI can be used to diagnose the type of diastematomyelia precisely. Diastematomyelia can be isolated or associated with other dysraphisms, segmental anomalies of the vertebral bodies, or visceral malformations (horseshoe or ectopic kidney, utero-ovarian malformation, and anorectal malformation).

Lumbosacral lipomas: in utero diagnosis and prognosis.

Introduction: For the purposes of prenatal counselling and prognostication, it is essential to keep in mind the key diagnostic criteria allowing recognition of the diverse forms of spinal dysraphism.

Diagnosis: It is most crucial not to confuse lipomas and myelomeningoceles, the former carrying a usually favourable prognosis, while the latter a high risk of serious neurological deficits. In our experience, these two conditions can be clearly distinguished on prenatal ultrasound and by fetal biology.

Intellectual prognosis of the Dandy-Walker malformation in children: the importance of vermian lobulation.

Half of patients with the Dandy-Walker malformation (DWM) have normal intellectual development. We aimed to identify feature on MRI associated with good intellectual prognosis. We reviewed 20 patients with DWM diagnosed on MRI, mean age 14.

[Treatment of intracranial cysts in children: peritoneal derivation or endoscopic fenestration?].

Objective: The goal of this study is to evaluate the indications, benefit and complications of shunts and endoscopic fenestrations in the treatment of malformative intracranial cysts.

Material And Method: The records of 172 consecutive children (mean age of 4 years) were reviewed. All had a malformative cyst.