[Subependymal giant cell astrocytoma in tuberous sclerosis complex. A presentation of eight paediatric patients].
ABSTRACT Presentation of 8 patients with subependymal giant-cell astrocytomas (SGCA) associated with tuberous sclerosis complex (TSC).
There are 8 patients, 6 males and 2 females with TSC, who presented with the tumour between the neonatal period and 24 years.
All patients showed bilateral hypersignalised areas in zones close to the foramen of Monro. Three of the patients were admitted urgently due to blindness and increased intracranial pressure. Incomplete removal of the tumour has always been bad solution as it resulted in the death of the patient (in one case) or further surgery operation in the short term. Only one patient developed the tumour suddenly from pre-existing subependymal nodules from the childhood and they had to be removed at 24 years of age. By contrast, 32 patients with TSC and images of subependymal nodules whose CT or MR progress was followed up for between 10 and 30 years did not develop a tumour. One patient had to be operated four times over 20 years.
SGCA associated with TSC is a severe complication which as likely to develop and careful monitoring is required from neonatal age with periodicclinical and imaging studies in order to avoid its irreversible complications. Hydrocephaly, blindness and even the death can be the main consequences. Reintervention of the recurrent tumour is often necessary.
- SourceAvailable from: Bum-soo Kim[show abstract] [hide abstract]
ABSTRACT: MR imaging without and with gadolinium-based contrast agents (GBCAs) is an important imaging tool for defining normal anatomy and characteristics of lesions. GBCAs have been used in contrast-enhanced MR imaging in defining and characterizing lesions of the central nervous system for more than 20 years. The combination of unenhanced and GBCA-enhanced MR imaging is the clinical gold standard for the noninvasive detection and delineation of most intracranial and spinal lesions. MR imaging has a high predictive value that rules out neoplasm and most inflammatory and demyelinating processes of the central nervous system.Magnetic resonance imaging clinics of North America 11/2012; 20(4):649-85.
- [show abstract] [hide abstract]
ABSTRACT: BACKGROUND: Tuberous sclerosis (TSC) is a genetic multisystem disorder associated with hamartomas in several organs including subependymal giant cell tumors (SGCT). SGCT have the potential to grow and therefore to become symptomatic and are one of the main causes of death in TSC individuals. Surgical resection is the procedure of choice for SGCT. However, the discovery of mTOR pathway upregulation in TSC-associated tumors and recent evidence that mTOR inhibitors may induce regression of SGCT open up new treatment strategies. Based on a review of the currently available literature and on personal experience, current options for the management of TSC patients and appropriate indications, taking into account benefits and risks of surgery and pharmacotherapy, are discussed. DISCUSSION: An earlier diagnosis of SGCT in neurologically asymptomatic children may allow a precocious surgical removal of the tumor, thus minimizing surgery-related morbidity and mortality. Biologically targeted pharmacotherapy with mTOR inhibitors such as sirolimus and everolimus provides a safe and efficacious treatment option for patients with SGCT and has the potential to change the clinical management of these tumors. However, whether pharmacotherapy is sufficient to control growth or if it only delays the need for surgical removal of symptomatic SGCT remains unclear. Further studies are needed to determine the optimal levels of mTOR inhibitors that preserve maximal anti-tumor efficacy while minimizing side effects.Child s Nervous System 02/2011; 27(8):1203-10. · 1.24 Impact Factor