Subependymal giant cell astrocytoma in tuberous sclerosis complex. A presentation of eight paediatric patients

Servicio de Neurología Pediátrica, H.U. La Paz, Madrid, España.
Neurologia (Barcelona, Spain) (Impact Factor: 1.38). 06/2010; 25(5):314-21. DOI: 10.1016/S2173-5808(10)70059-6
Source: PubMed


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.

1 Follower
14 Reads
  • [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.
    No preview · Article · Feb 2011 · Child s Nervous System
  • [Show abstract] [Hide abstract]
    ABSTRACT: Tuberous sclerosis complex (TSC) is an autosomal dominantly inherited syndrome. Renal disease is the main cause of death. Brain disorders are the origin of more frequent and severe problems, such as tumors, epilepsy, and mental retardation. Participation of neurosurgeons in the study and especially in the treatment of TSC patients is often required. Two types of pathological conditions mainly require neurosurgical interventions in TSC: subependymal giant cell astrocytomas (SGCA) and cortical tubers. SGCA are located in the cerebral region close to the foramina of Monroe, uni- or bilaterally, and originate in hamartomas that can grow slowly as well as rapidly, even suddenly, especially in cases with intratumoral cyst, causing increased intracranial pressure (ICP) with severe risk for visual loss and life. Neurosurgeons have to participate in the follow-up of the patients as soon as the risk of ICP exists to remove the tumor when the criteria of SGCA growth are present. The other intracranial lesions that require neurosurgical intervention by are the cortical tubers. These dysplastic lesions are associated with TSC in almost the 100% of affected persons and are the cause of epilepsy in most patients. The seizures can be resistant to antiepileptic medication in many cases in which a tuber is identified as the origin of the focal seizures after functional studies, such as EEG, MR, PET, etc. In these cases, only surgical removal of the tuber and the perituberal epileptogenic foci can cure the epilepsy. Large tubers are more epileptogenic than smaller ones.
    No preview · Article · May 2011 · Child s Nervous System
  • Source
    [Show abstract] [Hide abstract]
    ABSTRACT: To compare the prevalence rates of clinical conditions related to subependymal giant cell astrocytomas (SEGAs) before and after SEGA surgery among patients with tuberous sclerosis complex (TSC). Based on three US national claims databases, we analyzed and compared the prevalence rates of 21 SEGA-related conditions (including seizures, hydrocephalus, headaches and stroke or hemiparesis) in the six months preceding surgery with the rates in the second through sixth post-surgery months and in the seventh through twelfth post-surgery months among TSC patients who underwent SEGA surgery during 2000-2009. Repeated measures analysis with a bootstrapping method was used to assess the surgery impact. Patients (N = 47) had a mean age of 11.5 years at their first SEGA surgery, and 66% were male. Compared with the six months preceding surgery, the post-surgery prevalence rates increased by 23-26% for seizures, 21-26% for hydrocephalus, 17-19% for headache and 6-9% for stroke or hemiparesis (all p < 0.05). Repeated measures analysis confirmed the impact of surgery on the prevalence rate of these five conditions (all p < 0.05). SEGA surgery has its important role in SEGA treatment. However, after SEGA surgery this group of TSC patients had increased prevalence rates of seizures, hydrocephalus, vision disorders, headaches, stroke or hemiparesis, and autism. Future research to examine the causes of these symptoms is imperative. Limitations: The study results have limitations in data source representativeness, coding accuracy, and study design.
    Full-text · Article · Feb 2012 · Current Medical Research and Opinion
Show more