Ignacio Pascual-Castroviejo1. 1. Pediatric Neurology, University Hospital La Paz, Madrid, Spain. i.pcastroviejo@neurologia.e.telefonica.net
Abstract
BACKGROUND: 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. MATERIALS AND METHODS: 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. CONCLUSION: 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.
BACKGROUND: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. MATERIALS AND METHODS: 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. CONCLUSION: 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.
Authors: S L Dabora; S Jozwiak; D N Franz; P S Roberts; A Nieto; J Chung; Y S Choy; M P Reeve; E Thiele; J C Egelhoff; J Kasprzyk-Obara; D Domanska-Pakiela; D J Kwiatkowski Journal: Am J Hum Genet Date: 2000-12-08 Impact factor: 11.025
Authors: F E Jansen; A C Van Huffelen; P C Van Rijen; F S S Leijten; A Jennekens-Schinkel; P Gosselaar; O Van Nieuwenhuizen Journal: Seizure Date: 2007-04-06 Impact factor: 3.184