A familial syndrome of unilateral polymicrogyria affecting the right hemisphere.
A number of familial syndromes of bilateral polymicrogyria (PMG) have been described, but reported unilateral PMG cases have generally been sporadic. The authors identified four families in which unilateral right-sided PMG on MRI was present in more than one individual, with pathologic confirmation in one. Core clinical features included contralateral hemiparesis, developmental delay, and focal seizures. The authors' findings suggest that unilateral PMG exists in a familial syndrome of probable germline genetic origin.
Chang
B S
BS
Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA. bchang@bidmc.harvard.edu
Apse
K A
KA
Caraballo
R
R
Cross
J H
JH
Mclellan
A
A
Jacobson
R D
RD
Valente
K D
KD
Barkovich
A J
AJ
Walsh
C A
CA
D000293:Adolescent; D000328:Adult; D002540:Cerebral Cortex / Q000002:abnormalities*; D002648:Child; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D004828:Epilepsies, Partial / Q000175:diagnosis / Q000235:genetics; D005192:Family Health; D005260:Female; D007839:Functional Laterality / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D040582:Inheritance Patterns / Q000235:genetics; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D008297:Male; D009421:Nervous System Malformations / Q000175:diagnosis* / Q000235:genetics*; D009456:Neurofibromatosis 1 / Q000150:complications / Q000235:genetics; D010291:Paresis / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D010375:Pedigree; D013577:Syndrome