TCF12 microdeletion in a 72-year-old woman with intellectual disability.

Heterozygous mutations in TCF12 were recently identified as an important cause of craniosynostosis. In the original series, 14% of patients with a mutation in TCF12 had significant developmental delay or learning disability. We report on the first case of TCF12 microdeletion, detected by array-comparative genomic hybridization, in a 72-year-old patient presenting with intellectual deficiency and dysmorphism. Multiplex ligation-dependent probe amplification analysis indicated that exon 19, encoding the functionally important basic helix-loop-helix domain, was included in the deleted segment in addition to exon 20. We postulate that the TCF12 microdeletion is responsible for this patient's intellectual deficiency and facial phenotype.

A scanographic study of asymmetry of the frontal process of zygoma in unilateral coronal synostosis.

INTRODUCTION: Unilateral coronal synostosis (UCS) is a complex craniosynostosis, combining malformations of the upper (frontal bone, orbito-naso-frontal bandeau (ONFB) ) and the middle thirds of the face. In our centre, the surgical correction consists in the repositioning of the ONFB in front of the zygomaticofrontal suture on the affected side. Defects in the corrections have been observed post-operatively for some patients with a persistent asymmetry in the side walls of the orbits. The purposes of our study were to perform an analysis of the frontal process of zygoma (FPZ) in children affected by UCS using preoperative CT-scans and to consider the modification of surgical techniques in order to achieve a better ONFB repositioning and thus, better symmetry. MATERIAL AND METHOD: The preoperative CT-scans of 13 children with UCS who underwent corrective surgery in our department from 2005 to 2016, were analyzed. After the selection of 6 morphological points in 2 and 3 dimensions using planning software, the sutures constituting the coronal arch and the sagittal distances between the coronal plane and the zygomaticofrontal sutures were analyzed. We compared the measurements on the pathological side to the healthy side, the non-affected side being the reference side. The patients included were those for whom the lack of symmetry between the healthy side and the affected side was more than 2 mm. Statistical analyses were carried out using a Student t-test. RESULTS: Of the 13 children, 10 (1 day to 42 months old) met the inclusion criteria. The mean sagittal distance between the coronal plane and the healthy zygomaticofrontal suture was 33.8 mm ± 5.43 mm [range: 25.9: 40.9] [median: 34.3]. On the pathological side, the distance was 28.75 mm ± 4.76 mm [range: 20.8: 36.3] [median: 29.55], (p = 0.04). DISCUSSION: There is a significant asymmetry between the FPZ on the healthy and the pathological sides in children affected by UCS. This asymmetry is variable, therefore justifying a personalized surgical correction whichtakes into account not only the shape of the ONFB but also the degree of asymmetry of the FPZ. A prospective study with immediate preoperative CBCT image acquisition and long-term clinical and radiological follow-up, will be our next step.

Natural course and prognosis of anaplastic gangliogliomas: a multicenter retrospective study of 43 cases from the French Brain Tumor Database.

Background: Anaplastic gangliogliomas (GGGs) are rare tumors whose natural history is poorly documented. We aimed to define their clinical and imaging features and to identify prognostic factors. Methods: Consecutive cases of anaplastic GGGs in adults prospectively entered into the French Brain Tumor Database between March 2004 and April 2014 were screened. After diagnosis was confirmed by pathological review, clinical, imaging, therapeutic, and outcome data were collected retrospectively. Results: Forty-three patients with anaplastic GGG (median age, 49.4 y) from 18 centers were included. Presenting symptoms were neurological deficit (37.2%), epileptic seizure (37.2%), or increased intracranial pressure (25.6%). Typical imaging findings were unifocal location (94.7%), contrast enhancement (88.1%), central necrosis (43.2%), and mass effect (47.6%). Therapeutic strategy included surgical resection (95.3%), adjuvant radiochemotherapy (48.8%), or radiotherapy alone (27.9%). Median progression-free survival (PFS) and overall survival (OS) were 8.0 and 24.7 months, respectively. Three- and 5-year tumor recurrence rates were 69% and 100%, respectively. The 5-year survival rate was 24.9%. Considering unadjusted significant prognostic factors, tumor midline crossing and frontal location were associated with shorter OS. Temporal and parietal locations were associated with longer and shorter PFS, respectively. None of these factors remained statistically significant in multivariate analysis. Conclusions: We report a large series providing clinical, imaging, therapeutic, and prognostic features of adult patients treated for an intracerebral anaplastic GGG. Our results show that pathological diagnosis is difficult, that survivals are only slightly better than for glioblastomas, and that complete surgical resection followed with adjuvant chemoradiotherapy offers longer survival.

Surgical guide for the remodelling of the orbito-naso-frontal bandeau in craniosynostosis surgery.

INTRODUCTION: Craniosynostoses affecting the forehead sutures can not only cause brain damage, but can also have an esthetic impact, because of the associated orbito-naso-frontal deformations. Reshaping the orbito-naso-frontal bandeau (ONFB) is difficult to appreciate perioperatively and should ideally be customized to each child. The aim of this study was to develop a template to guide the surgeon preoperatively towards an ideal customized remodelling of the ONFB. MATERIALS AND METHODS: A previous study conducted on computed tomography scans obtained from healthy children allowed us to conclude that the whole ONFB shape could be accurately described just by the distance measured between the fronto-zygomatic sutures (FZD), independently of age and gender. Our customizable template relies on this measurement. RESULTS: A re-usable template, built around three supports adjustable to a wide range of FZD, was designed using the CAD 3D Rhinoceros® software and machined in stainless steel 316L. The prototype was used for three children with good preliminary results. DISCUSSION AND CONCLUSION: The use of a customizable surgical template allows the surgeon to perform accurate and ideal perioperative remodeling of the ONFB in children suffering from craniosynostosis affecting the forehead sutures. Our prototype is currently the only one to be adjustable according to the FZD. The utility of this device will be assessed in a future prospective clinical study.

Frontosphenoidal synostosis: a rare cause of unilateral anterior plagiocephaly.

INTRODUCTION: When a child walks in the clinic with a unilateral frontal flattening, it is usually associated in our minds with unilateral coronal synostosis. While the latter might be the most common cause of anterior plagiocephaly, it is not the only one. A patent coronal suture will force us to consider other etiologies, such as deformational plagiocephaly, or synostosis of another suture. To understand the mechanisms underlying this malformation, the development and growth of the skull base must be considered. MATERIALS AND METHODS: There have been few reports in the literature of isolated frontosphenoidal suture fusion, and we would like to report a series of five cases, as the recognition of this entity is important for its treatment. CONCLUSION: Frontosphenoidal synostosis must be searched in the absence of a coronal synostosis in a child with anterior unilateral plagiocephaly, and treated surgically.