A patient with simplified gyral pattern followed by progressive brain atrophy

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 c...

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Bibliographic Details
Published in:Brain & development (Tokyo. 1979) 2007-07, Vol.29 (6), p.383-386
Main Authors: Kure-Kageyama, Hiroko, Saito, Yoshiaki, Maegaki, Yoshihiro, Nanba, Yukiko, Ogura, Kaeko, Matsuda, Atsue, Kuraoka, Masatsugu, Ohno, Kousaku
Format: Article
Language:English
Subjects:
Atrophy
Brain Diseases - pathology
Brain Diseases - physiopathology
Brain malformation
Cerebral Cortex - pathology
Cerebral Cortex - physiopathology
Child, Preschool
Disease Progression
Electroencephalography
Follow-Up Studies
Humans
Leukodystrophy
Lissencephaly
Magnetic Resonance Imaging - methods
Male
Progressive atrophy
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Summary: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.
ISSN:0387-7604
1872-7131
DOI:10.1016/j.braindev.2006.11.008