Hypoplastic corpus callosum in ocular albinism: indication of a global disturbance of neuronal migration.
Ocular albinism is distinguished from the more common oculocutaneous albinism by the presence of normal pigmentation of skin and hair in the former condition. Recent studies of ocular albinism have shown that the hypopigmentation of the optic fundus is associated with a number of anomalies of neuronal wiring involving the visual system. We present a patient with ocular albinism who also has a hypoplastic corpus callosum as determined by analysis of midsagittal magnetic resonance imaging scans. Previous studies of the hypoplastic corpus callosum indicate that this anomaly is a defect in neuronal migration as well. The finding of a hypoplastic corpus callosum in a patient with ocular albinism suggests a more generalized defect in neuronal migration not limited to the visual system.
Bodensteiner
J B
JB
Department of Neurology, West Virginia University School of Medicine, Morgantown 26506.
Breen
L
L
Schwartz
T L
TL
Schaefer
G B
GB
D000015:Abnormalities, Multiple / Q000175:diagnosis; D061085:Agenesis of Corpus Callosum; D016117:Albinism, Ocular / Q000175:diagnosis* / Q000235:genetics; D002465:Cell Movement / Q000502:physiology; D003337:Corpus Callosum / Q000473:pathology; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D009474:Neurons / Q000166:cytology; D009900:Optic Nerve / Q000002:abnormalities