Diagnostic features and clinical signs of 21 patients with lissencephaly type 1.
Lissencephaly type I has been described as either the cerebral expression of a complex malformation syndrome such as Miller-Dieker syndrome (MDS), or as isolated lissencephaly sequence (ILS). In a nation-wide study in The Netherlands, of 21 patients with lissecephaly type I, four were found to have MDS and 17 ILS. New clinical aspects were as follows: the mean life-span of the entire group was longer than previously reported; patients with lissencephaly grades 3 or 4 (mixture of agyria and pachygyria, or complete pachygyria) developed seizures later than those with grades 1 and 2 (complete and almost complete agyria); microcephaly was not always present in patients with grades 3 and 4 lissencephaly; and patients with lissencephaly grades 1 and 2 had hardly any psychomotor development, while those with grades 3 and 4 were severely retarded.
Department of Neurology, Westeinde Hospital, The Hague, The Netherlands.
J F
JF
de Rijk-van Andel
W F
WF
Arts
P G
PG
Barth
M C
MC
Loonen
D002540:Cerebral Cortex / Q000002:abnormalities* / Q000473:pathology; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002886:Chromosomes, Human, Pair 17; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009426:Netherlands; D013577:Syndrome; D014057:Tomography, X-Ray Computed