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Siblings With Cystic Leukoencephalopathy and Megalencephaly

Department of NeuroLogy, University of Istanbul Istanbul, Turkey, ycengiz{at}bistek.net.tr

Sinan Çomu, MD

Pediatric Neurology, University of Istanbul, Istanbul, Turkey

Naci Koçer, MD

Department of Radiology, University of Istanbul, Istanbul, Turkey

Adnan Yüksel, MD

Department of Pediatrics, University of Istanbul, Istanbul, Turkey

Erem Gündüz, MD

Departments of Neurology Cerrahpasa Medical Faculty University of Istanbul Istanbul, Turkey

Veysi Demirbilek, MD

Departments of Neurology Cerrahpasa Medical Faculty University of Istanbul Istanbul, Turkey

Ayla Ocal, MD

Departments of Neurology Cerrahpasa Medical Faculty University of Istanbul Istanbul, Turkey

Cystic leukoencephalopathy with megalencephaly is a newly described entity with mild clinical involvement. Patients suffer from developmental problems and seizures in childhood. Progression is gradual into adulthood. Typical magnetic resonance imaging findings include subcortical cysts and diffuse leukoencephalopathy. The etiology is unknown with possibly autosomal-recessive inheritance. We present two pairs of siblings with this disease and emphasize the characteristic and variable patterns even within the same family. (J Child Neurol 2000;15:690-693).

Journal of Child Neurology, Vol. 15, No. 10, 690-693 (2000)
DOI: 10.1177/088307380001501010


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