MRI of the brain in muscle-eye-brain (MEB) disease.
Muscle-eye-brain (MEB) disease belongs to the spectrum of rare congenital syndromes with migration disorders of the brain and muscular dystrophy, along with the Walker-Warburg syndrome and Fukuyama congenital muscular dystrophy. Their features overlap, and differential diagnosis presents some difficulties. We examined the brain of 10 patients with MEB using high-field MRI and found a uniform pattern consisting of a pachygyria-type cortical migration disorder, septal and corpus callosum defects and severe hypoplasia of the pons in 7 of them.
Valanne
L
L
Department of Radiology, Children's Hospital, University of Helsinki, Finland.
Pihko
H
H
Katevuo
K
K
Karttunen
P
P
Somer
H
H
Santavuori
P
P
D000293:Adolescent; D000328:Adult; D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D005124:Eye Abnormalities / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009123:Muscle Hypotonia / Q000175:diagnosis / Q000235:genetics; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000235:genetics; D009216:Myopia / Q000175:diagnosis / Q000235:genetics; D009896:Optic Atrophy / Q000175:diagnosis / Q000235:genetics; D012162:Retinal Degeneration / Q000175:diagnosis / Q000235:genetics; D012164:Retinal Diseases / Q000175:diagnosis* / Q000235:genetics; D013577:Syndrome; D014786:Vision Disorders / Q000175:diagnosis* / Q000235:genetics