title: A patient with simplified gyral pattern followed by progressive brain atrophy.
abstract: We present the case of a three-year-old boy who suffered from intractable epilepsy from birth, and who displayed microcephaly and severe developmental delay. Neuroradiological examination revealed the presence of simplified gyri of the cerebral cortex, and increased signal intensity changes in the cerebral white matter on T2-weighted magnetic resonance imaging. A tentative diagnosis of congenital cortical malformation was made, but unexpectedly, the cerebrum, cerebellum, and pons showed a progressive atrophy during the follow-up period. The basal ganglia and thalamus were relatively spared. Investigations could find no evidence of leukodystrophies, metabolic disorders, hereditary brain anomalies, or congenital central nervous infections. This case may represent a novel type of neurodegenerative disease with malformation of cortical development.
authors.affiliation: Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, 36-1 Nishi-cho, Yonago 683 8504, Japan.
authors.forename: Hiroko
authors.initials: H
authors.lastname: Kure-Kageyama
authors.forename: Yoshiaki
authors.initials: Y
authors.lastname: Saito
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Maegaki
authors.forename: Yukiko
authors.initials: Y
authors.lastname: Nanba
authors.forename: Kaeko
authors.initials: K
authors.lastname: Ogura
authors.forename: Atsue
authors.initials: A
authors.lastname: Matsuda
authors.forename: Masatsugu
authors.initials: M
authors.lastname: Kuraoka
authors.forename: Kousaku
authors.initials: K
authors.lastname: Ohno
mesh_terms: D001284:Atrophy; D001927:Brain Diseases / Q000473:pathology* / Q000503:physiopathology; D002540:Cerebral Cortex / Q000473:pathology* / Q000503:physiopathology; D002675:Child, Preschool; D018450:Disease Progression; D004569:Electroencephalography; D005500:Follow-Up Studies; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male