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From the Division of Neurogenetics (Drs. Chang, Piao, and Walsh, A. Bodell) and Howard Hughes Medical Institute (Dr. Walsh), Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Division of Pediatric Neuroradiology (Dr. Grant), Department of Radiology, Massachusetts General Hospital, Harvard Medical School, and Division of Newborn Medicine (Dr. Piao), Children’s Hospital, Boston, MA; Departments of Pathology (Dr. Giannini) and Neurology (Dr. Cascino), Mayo Clinic, Rochester, MN; and Kaiser Permanente Genetics (Dr. Tezcan), Oakland, and Kaiser Permanente Pediatrics (Dr. Tezcan), Pleasanton; and Division of Pediatric Neuroradiology (Dr. Barkovich), Department of Radiology, University of California San Francisco, CA; Austin Hospital and Royal Children’s Hospital (Dr. Scheffer), University of Melbourne, and Department of Neurology (Dr. Leventer), Royal Children’s Hospital, Murdoch Children’s Research Institute, University of Melbourne, Australia; Yorkshire Regional Genetic Service (Dr. Woods), Department of Clinical Genetics, St. James’s University Hospital, Leeds, UK; and Department of Child Neurology (Dr. Topcu), Hacettepe University Medical Faculty, Hacettepe Ihsan Dogramaci Children’s Hospital, Ankara, Turkey.
Address correspondence and reprint requests to Dr. B.S. Chang, NRB-02-208B, 77 Avenue Louis Pasteur, Boston, MA 02115; e-mail: bchang{at}bidmc.harvard.edu
Background: Syndromes of bilateral symmetric polymicrogyria include an autosomal recessive form of bilateral frontoparietal polymicrogyria (BFPP), in which the malformation is most severe rostrally. The authors describe a new syndrome they have termed "bilateral generalized polymicrogyria" (BGP), in which the malformation occurs in a generalized distribution but is often most severe in the perisylvian regions.
Methods: Patients with bilateral polymicrogyria were identified from multiple medical centers worldwide. The diagnosis of BGP was based on findings from conventional spin echo MRI and, in one case, postmortem neuropathologic findings. Genetic analysis was performed for those patients from consanguineous pedigrees and those with multiple affected siblings to rule out linkage to the BFPP locus on chromosome 16q.
Results: Twelve patients were identified with BGP. Clinical features included cognitive and motor delay as well as seizures. Some specific features characteristic of other known bilateral polymicrogyria syndromes, such as pseudobulbar palsy and dysconjugate gaze, were not commonly seen in these patients. Radiologically, polymicrogyria appeared widespread but was often most severe in the perisylvian regions. Pathologic examination in one case revealed a diffusely thin and excessively folded cerebral cortex lacking normal six-layered architecture. Seven patients subjected to genetic analysis did not demonstrate linkage to the BFPP locus.
Conclusions: BGP is a distinct syndrome of cortical malformation. Several features allow BGP to be distinguished from other disorders on the growing list of bilateral symmetric polymicrogyria syndromes.
Received October 8, 2003. Accepted in final form January 24, 2004.
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