Microlissencephaly: a heterogeneous malformation of cortical development.
We report the neonatal courses, early postnatal development, and neuroimaging findings of 17 patients with marked microcephaly and simplified cerebral gyral patterns, a condition that we call microlissencephaly. Retrospective analyses of the clinicoradiologic features of these patients allowed segregation of the patients into 5 distinct groups with varying outcomes. The apparent discreteness of these groups suggests multiple etiologies of this malformation, although there appears to be a strong genetic component with probable autosomal recessive inheritance. Utilizing the neonatal course and neuroradiologic features of these infants allows classification of specific subsets, which may be useful to predict outcome.
Barkovich
A J
AJ
Faculté de Médicine Xavier-Bichat (Université de Paris VII), Hôpital Robert-Debré, France.
Ferriero
D M
DM
Barr
R M
RM
Gressens
P
P
Dobyns
W B
WB
Truwit
C L
CL
Evrard
P
P
D002540:Cerebral Cortex / Q000002:abnormalities* / Q000473:pathology / Q000503:physiopathology; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000209:etiology*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D008831:Microcephaly / Q000150:complications*; D009069:Movement Disorders / Q000209:etiology; D009128:Muscle Spasticity / Q000209:etiology; D011379:Prognosis; D011712:Pyramidal Tracts / Q000473:pathology / Q000503:physiopathology; D012189:Retrospective Studies; D012640:Seizures / Q000209:etiology; D009626:Terminology as Topic