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Neurology 2003;60:580-587
© 2003 American Academy of Neurology

Malformations of cortical development with balloon cells

Clinical and radiologic correlates

M. T. Mackay, MBBS FRACP, L. E. Becker, MD FRCPC, S. H. Chuang, MD FRCPC, H. Otsubo, MD, N. A. Chuang, MD, J. Rutka, MD PhD, FRCSC, B. Ben-Zeev, MD, O. C. Snead, III, MD FRCPC and S. K. Weiss, MD FRCPC

From The Royal Children’s Hospital (Dr. Mackay), Victoria, Australia; The Hospital for Sick Children (Drs. Becker, S.H. Chuang, Otsubo, N.A. Chuang, Rutka, Snead, and Weiss), University of Toronto, Canada; and Sheba Medical Centre (Dr. Ben-Zeev), Tel-Aviv University, Israel.

Address correspondence and reprint requests to Dr. Shelly Weiss, Assistant Professor, University of Toronto, Director, Paediatric Neurology Training Program, The Hospital for Sick Children, Division of Neurology, 555 University Avenue, Toronto, Ontario, M5G 1X8 Canada; e-mail: shelly.weiss{at}sickkids.ca

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.




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