UNLABELLED: We report on two children with hemihypertrophy and ipsilateral hemimegalencephaly. Vascular lesions in one were consistent with a diagnosis of the Klippel-Trénaunay-Weber Syndrome. MRI performed in the first days of life and at 1 month of age revealed the presence of the neuronal anomaly. CONCLUSION: The occurrence of hemimegalencephaly in our patients indicates that hemihypertrophy and vascular dysplasia are pathogenetically related phenomena of a continuous spectrum in which this brain disorder may appear.
UNLABELLED: We report on two children with hemihypertrophy and ipsilateral hemimegalencephaly. Vascular lesions in one were consistent with a diagnosis of the Klippel-Trénaunay-Weber Syndrome. MRI performed in the first days of life and at 1 month of age revealed the presence of the neuronal anomaly. CONCLUSION: The occurrence of hemimegalencephaly in our patients indicates that hemihypertrophy and vascular dysplasia are pathogenetically related phenomena of a continuous spectrum in which this brain disorder may appear.
Authors: Robert L Conway; Barry D Pressman; William B Dobyns; Moise Danielpour; John Lee; Pedro A Sanchez-Lara; Merlin G Butler; Elaine Zackai; Lindsey Campbell; Sulagna C Saitta; Carol L Clericuzio; Jeff M Milunsky; H Eugene Hoyme; Joseph Shieh; John B Moeschler; Barbara Crandall; Julie L Lauzon; David H Viskochil; Brian Harding; John M Graham Journal: Am J Med Genet A Date: 2007-12-15 Impact factor: 2.802