CYSTIC LEUKOENCEPHALOPATHY IN A MEGALENCEPHALIC CHILD - CLINICAL AND MAGNETIC-RESONANCE-IMAGING MAGNETIC-RESONANCE SPECTROSCOPY FINDINGS

A neurodegenerative disorder characterized by megalencephaly since ear ly infancy and slowly progressive symptoms of cerebellar, pyramidal, a nd extrapyramidal dysfunction, pseudobulbar signs, and epilepsy was de tected in an 8-year-old girl with severe neuromotor handicap but prese rvation of mental and sensory functions, Cranial computed tomography a nd magnetic resonance imaging revealed brain swelling as well as sever e abnormalities of frontal, temporal, and parietal white matter, with an extended cystlike appearance isointense to cerebrospinal fluid, Loc alized proton magnetic resonance spectroscopy of affected cystic white matter showed a loss of all metabolites, in accordance with a complet e disintegration of neuroaxonal and glial tissue, This case is likely a severe variant of a recently described megalencephalic leukoencephal opathy with swelling and discrepantly mild clinical course. (C) 1997 b y Elsevier Science Inc. All rights reserved.