A case of Walker-Warburg syndrome with uncommon findings. Double cortical layer, temporal cyst and increased serum IgM.
We report a Japanese boy with the Walker-Warburg syndrome. He had typical clinical features, including type II lissencephaly, congenital muscular dystrophy and an ocular abnormality associated with previously undescribed findings, a double cortical layer and an isolated cyst evident on magnetic resonance imaging, and an increased level of serum IgM. We speculate that the inner layer of the cortices in this case represents a layered heterotopia under the cerebral cortex.
Yamaguchi
E
E
Department of Pediatrics, Yamaguchi University School of Medicine, Japan.
Hayashi
T
T
Kondoh
H
H
Tashiro
N
N
Tsukahara
M
M
Nagamitsu
T
T
Eguchi
Y
Y
D001927:Brain Diseases / Q000151:congenital* / Q000276:immunology / Q000473:pathology; D002540:Cerebral Cortex / Q000002:abnormalities* / Q000276:immunology / Q000473:pathology; D003560:Cysts / Q000276:immunology / Q000473:pathology*; D004569:Electroencephalography; D005124:Eye Abnormalities / Q000473:pathology; D006801:Humans; D007075:Immunoglobulin M / Q000097:blood*; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D009136:Muscular Dystrophies / Q000151:congenital / Q000473:pathology; D013577:Syndrome; D013702:Temporal Lobe / Q000002:abnormalities* / Q000473:pathology
D007075:Immunoglobulin M