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Neurology 2003;60:1033-1036
© 2003 American Academy of Neurology
Brief Communications

Periventricular heterotopia associated with chromosome 5p anomalies

V.L. Sheen, MD PhD, J.W. Wheless, MD, A. Bodell, MS CGC, E. Braverman, BS, P.D. Cotter, PhD, K.A. Rauen, MD PhD, O. Glenn, MD, K. Weisiger, MS, S. Packman, MD, C.A. Walsh, MD PhD and E.H. Sherr, MD PhD

From the Division of Neurogenetics (Drs. Sheen and Walsh, and A. Bodell), Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Institutes of Medicine, Boston, MA; Department of Neurology (Dr. Wheless), University of Texas at Houston; Program in Biological and Biomedical Sciences (Dr. Walsh), Harvard Medical School, Boston, MA; Department of Pathology (E. Braverman), Brigham and Women’s Hospital, Boston, MA; Division of Medical Genetics (Dr. Cotter), Children’s Hospital Oakland, CA; and Departments of Pediatrics (Drs. Rauen, Packman, and Sherr, and K. Weisiger), Radiology (Dr. Glenn), and Neurology (Dr. Sherr), University of California at San Francisco.

Address correspondence and reprint requests to Dr. Christopher A. Walsh, Beth Israel Hospital, Harvard Institutes of Medicine, 8th Floor, 77 Avenue Louis Pasteur, Boston, MA 02115; e-mail: cwalsh{at}caregroup.harvard.edu; or Dr. Elliott H. Sherr, Departments of Neurology and Pediatrics, University of California, San Francisco, 553 Parnassus Ave, U585C, Box 0748, San Francisco, CA 94143; e-mail: esherr@itsa.ucsf.edu

Periventricular heterotopia (PH) is characterized by neuronal nodules along the lateral ventricles. Whereas mutations in X-linked FLNA cause such cortical malformations, the authors report two cases of PH localizing to chromosome 5p. Both subjects have complex partial seizures. MRI demonstrated bilateral nodular PH, with subcortical heterotopia or focal gliosis. FISH identified a duplication of 5p15.1 [46,XX,dup(5)(p15.1p15.1)] and a trisomy of 5p15.33 [46,XY,der(14)t(5;14)(p15.33;p11.2) mat]. These findings suggest a new PH locus along the telomeric end of chromosome 5p.




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