Megalencephaly, mega corpus callosum, and complete lack of motor development: delineation of a rare syndrome.
Unlike atrophy of the corpus callosum (CC), callosal hypertrophy is a rare neuroimaging finding with only few reported patients. The "megalencephaly, mega CC, and complete lack of motor development" syndrome is morphologically characterized by generalized megalencephaly, a thickened CC, and extensive polymicrogyria causing a pachygyric appearance. We report on the fifth patient showing this rare syndrome, a 3-year-old girl displaying the typical neuroimaging features. Clinically she showed a severely impaired motor, mental, and speech development with marked muscular hypotonia but no dysmorphic facial signs. She also retained the ability to move by rolling sidewards so that complete lack of motor development may not be a consistent feature.
Hengst
Meike
M
Department of Pediatrics, University Hospital, RWTH Aachen, Aachen, Germany. mhengst@ukaachen.de
Tücke
Jens
J
Zerres
Klaus
K
Blaum
Marcus
M
Häusler
Martin
M
D061085:Agenesis of Corpus Callosum; D002675:Child, Preschool; D003337:Corpus Callosum / Q000473:pathology*; D002658:Developmental Disabilities / Q000175:diagnosis / Q000473:pathology / Q000503:physiopathology; D005260:Female; D006801:Humans; D006984:Hypertrophy; D008279:Magnetic Resonance Imaging; D019957:Motor Skills Disorders / Q000175:diagnosis / Q000473:pathology / Q000503:physiopathology; D035583:Rare Diseases / Q000175:diagnosis / Q000473:pathology / Q000503:physiopathology*