A patient with simplified gyral pattern followed by progressive brain atrophy.
Brain Dev, 2007/7;29(6):383-6.
Kure-Kageyama H[1], Saito Y, Maegaki Y, Nanba Y, Ogura K, Matsuda A, Kuraoka M, Ohno K
Affiliations
PMID: 17194558
Impact factor: 2.272
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.
MeSH terms
Atrophy; Brain Diseases; Cerebral Cortex; Child, Preschool; Disease Progression; Electroencephalography; Follow-Up Studies; Humans; Magnetic Resonance Imaging; Male
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