Diagnostic features and clinical signs of 21 patients with lissencephaly type 1

Autor: de Rijk-van Andel, J. F., Arts, W. F., Barth, P. G., Loonen, M. C.
Přispěvatelé: Other departments
Jazyk: angličtina
Rok vydání: 1990
Zdroj: Developmental medicine and child neurology, 32(8), 707-717. Wiley-Blackwell
ISSN: 0012-1622
Popis: 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
Databáze: OpenAIRE