Mega-corpus callosum, polymicrogyria, and psychomotor retardation: confirmation of a syndromic entity.
A mega-corpus callosum (CC) is not a common manifestation of neurological disease. Previous reports of patients with a constellation of findings including megalencephaly, perisylvian polymicrogyria, distinct facies, psychomotor retardation and mega-corpus callosum were designated as having megalencephaly, mega-corpus callosum, and complete lack of motor development [OMIM 603387; also referred to as megalencephaly-polymicrogyria-mega-corpus callosum (MEG-PMG-MegaCC)] syndrome. Three patients were initially reported with this syndrome, and a fourth was reported recently. Another case had similar findings in utero and upon autopsy. We present an additional patient who conforms to this phenotype; however, he is not megalencephalic, but has a normal head circumference in the setting of short stature. This patient is also noted to have abnormal saccades and mask-like facies. His motor function is more developed than in the other reported patients and was further improved by treatment with L-DOPA/carbidopa, which was started because of his extrapryramidal symptoms and signs which were associated with low cerebral spinal fluid (CSF) catecholamine levels.
Pierson
T M
TM
NINDS/NIH, Neurogenetics Branch, Bethesda, Maryland 20892-3705, USA. pierson@ninds.nih.gov
Zimmerman
R A
RA
Tennekoon
G I
GI
Bönnemann
C G
CG
D061085:Agenesis of Corpus Callosum; D002648:Child; D002658:Developmental Disabilities / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D054220:Malformations of Cortical Development / Q000150:complications / Q000473:pathology*; D011596:Psychomotor Disorders / Q000150:complications / Q000473:pathology*; D013577:Syndrome