Malformations of cortical development with balloon cells

Background: Balloon cells are a key feature of tuberous sclerosis (TS) but are also seen in focal cortical dysplasia (FCD). The authors compare the clinical and MRI characteristics in children with medically refractory localization-related epilepsy who were found to have balloon cells on histology after cortical resections. Methods: A retrospective review of clinical and MRI data in cases ascertained from a search of pathology records from 1990 until 2000 for those with a diagnosis of FCD or TS. Seventeen patients were identified with malformations of cortical development with balloon cells on histology. Seven had clinical diagnosis of TS and the remaining 10, FCD with balloon cells (FCDBC). Results: Seventy percent of patients with FCDBC (mean follow-up 3.3 years) and 33% of patients with TS (mean follow-up 5.1 years) are seizure free after surgery. There was agreement between the diagnosis based on preoperative MR imaging and on histology in 60% of patients with FCDBC and 71% of patients with TS. Myelin depletion and calcification were noted more frequently in patients with TS. Conclusions: No significant differences were noted between patients with refractory epilepsy caused by TS or FCDBC. There was a trend toward better postoperative seizure control in the FCDBC group. These two conditions are difficult to distinguish on the basis of MR and histologic appearances. The authors conclude that FCDBC likely represents a phenotypic variation of TS, and as such, all patients with balloon cell dysplasias should be carefully screened for other features of TS to enable appropriate genetic counseling.

[1]  D. Spencer,et al.  Focal cortical dysplasia of Taylor, balloon cell subtype: MR differentiation from low-grade tumors. , 1997, AJNR. American journal of neuroradiology.

[2]  P Evrard,et al.  A classification scheme for malformations of cortical development. , 1996, Neuropediatrics.

[3]  S Povey,et al.  Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. , 1997, Science.

[4]  L. Becker.  Synaptic Dysgenesis , 1991, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

[5]  C. Elger,et al.  Focal cortical dysplasia of Taylor's balloon cell type: Mutational analysis of the TSC1 gene indicates a pathogenic relationship to tuberous sclerosis , 2002, Annals of neurology.

[6]  M A Falconer,et al.  Focal dysplasia of the cerebral cortex in epilepsy , 1971, Journal of neurology, neurosurgery, and psychiatry.

[7]  B. Bourgeois,et al.  MRI of focal cortical dysplasia , 1998, Neuroradiology.

[8]  G. Jackson,et al.  Clinical and imaging features of cortical malformations in childhood , 1999, Neurology.

[9]  H. Northrup,et al.  Tuberous Sclerosis Consensus Conference: Recommendations for Diagnostic Evaluation , 1999, Journal of child neurology.

[10]  G. Ojemann,et al.  Surgical management and seizure outcome in patients with tuberous sclerosis. , 1997, Journal of neurosurgery.

[11]  B. Scheithauer,et al.  Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions. , 1996, American journal of human genetics.

[12]  N. Altman,et al.  Tuberous sclerosis: characteristics at CT and MR imaging. , 1988, Radiology.

[13]  S. Roper,et al.  Tuberous sclerosis-related gene expression in normal and dysplastic brain , 1998, Epilepsy Research.

[14]  S. Thomas,et al.  Identification and characterization of the tuberous sclerosis gene on chromosome 16 , 1993, Cell.

[15]  M. Duchowny,et al.  Epilepsy Surgery in Children with Tuberous Sclerosis Complex: Presurgical Evaluation and Outcome , 2000, Epilepsia.

[16]  H. Northrup,et al.  Tuberous Sclerosis Complex Consensus Conference: Revised Clinical Diagnostic Criteria , 1998, Journal of child neurology.

[17]  M. Shakudo,et al.  CT and MR imaging of cerebral tuberous sclerosis , 1998, Brain and Development.

[18]  J. Maynard,et al.  Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis. , 1999, American journal of human genetics.

[19]  D R Fish,et al.  Abnormalities of gyration, heterotopias, tuberous sclerosis, focal cortical dysplasia, microdysgenesis, dysembryoplastic neuroepithelial tumour and dysgenesis of the archicortex in epilepsy. Clinical, EEG and neuroimaging features in 100 adult patients. , 1995, Brain : a journal of neurology.

[20]  A Yagishita,et al.  Focal cortical dysplasia: appearance on MR images. , 1997, Radiology.

[21]  R. Zimmerman,et al.  Solitary cortical tubers. , 1995, AJNR. American journal of neuroradiology.

[22]  A J Barkovich,et al.  Focal transmantle dysplasia: A specific malformation of cortical development , 1997, Neurology.

[23]  R. Wollmann,et al.  Distribution of the neuronal specific protein, 14-3-2, in central nervous system lesions of tuberous sclerosis , 2004, Acta Neuropathologica.

[24]  P. Crino,et al.  New developments in the neurobiology of the tuberous sclerosis complex. , 1999, Neurology.

[25]  F Andermann,et al.  Focal neuronal migration disorders and intractable partial epilepsy: Results of surgical treatment , 1991, Annals of neurology.

[26]  T. Rasmussen,et al.  Surgical treatment of epilepsy in tuberous sclerosis , 1998, Neurology.

[27]  Juan Bulacio,et al.  Seizure outcome after epilepsy surgery in children and adolescents , 1998, Annals of neurology.

[28]  J. Wheless,et al.  On the surgical treatment of refractory epilepsy in tuberous sclerosis complex. , 1997, Pediatric neurosurgery.

[29]  A. J. Barkovich,et al.  Classification system for malformations of cortical development , 2001, Neurology.

[30]  S. Chou,et al.  Tuberous sclerosis in the premature infant: a report of a case with immunohistochemistry on the CNS. , 1989, Clinical Neuropathology.

[31]  J. Trojanowski,et al.  Embryonic neuronal markers in tuberous sclerosis: single-cell molecular pathology. , 1996, Proceedings of the National Academy of Sciences of the United States of America.

[32]  A. Ouweland,et al.  Somatic mosaicism and clinical variation in tuberous sclerosis complex , 1995, The Lancet.

[33]  P. Crino,et al.  Cellular and molecular basis of cerebral dysgenesis , 1997, Journal of neuroscience research.

[34]  N. Migone,et al.  9q34 loss of heterozygosity in a tuberous sclerosis astrocytoma suggests a growth suppressor-like activity also for the TSC1 gene. , 1994, Human molecular genetics.

[35]  F Andermann,et al.  Focal neuronal migration disorders and intractable partial epilepsy: A study of 30 patients , 1991, Annals of neurology.

[36]  S. Vandenberg,et al.  Tuber and subependymal giant cell astrocytoma associated with tuberous sclerosis: an immunohistochemical, ultrastructural, and immunoelectron microscopic study , 2004, Acta Neuropathologica.

[37]  H. Vinters,et al.  Temporal and extended temporal resections for the treatment of intractable seizures in early childhood. , 1992, Pediatric neurosurgery.

[38]  L F Quesney,et al.  Surgical Treatment of Children with Medically Intractable Frontal or Temporal Lobe Epilepsy: Results and Highlights of 40 Years' Experience , 1993, Epilepsia.

[39]  V. Jay,et al.  Evidence of abnormal differentiation in giant cells of tuberous sclerosis. , 1997, Pediatric neurology.

[40]  N. Arai,et al.  Cortical tubers without other stigmata of tuberous sclerosis: imaging and pathological findings , 1999, Neuroradiology.

[41]  A. Green,et al.  The tuberous sclerosis gene on chromosome 9q34 acts as a growth suppressor. , 1994, Human molecular genetics.

[42]  A. Green,et al.  Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients , 1994, Nature Genetics.

[43]  B. Brody,et al.  MR imaging of tuberous sclerosis: pathogenesis of this phakomatosis, use of gadopentetate dimeglumine, and literature review. , 1992, Radiology.

[44]  R. Mattson,et al.  Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy. , 1989, Epilepsia.

[45]  R. Kuzniecky,et al.  Cortical dysplasia in temporal lobe epilepsy: Magnetic resonance imaging correlations , 1991, Annals of neurology.

[46]  A J Barkovich,et al.  MR imaging of tuberous sclerosis in neonates and young infants. , 1999, AJNR. American journal of neuroradiology.

[47]  V. Jay,et al.  Surgical pathology of epilepsy: a review. , 1994, Pediatric pathology.