TY - JOUR
T1 - Extreme microcephaly with agyria-pachygyria, partial agenesis of the corpus callosum, and pontocerebellar dysplasia
AU - Sztriha, László
AU - Johansen, Johan G.
AU - Al-Gazali, Lihadh I.
PY - 2005/2
Y1 - 2005/2
N2 - A 1-year-old boy with extreme microcephaly and a complex brain malformation is reported. Magnetic resonance imaging revealed an abnormal gyral pattern with features of the agyria-pachygyria spectrum, partial agenesis of the corpus callosum, severely hypoplastic posterior cerebellar vermis, and an abnormal foliation pattern of the cerebellar hemispheres associated with a flat and wide isthmus and pons. Although this phenotype shares some features with malformations classified as microcephaly with a simplified gyral pattern, microlissencephaly, or lissencephaly with cerebellar hypoplasia, none of the several subgroups of these categories are identical to the cerebral dysgenesis found in this patient.
AB - A 1-year-old boy with extreme microcephaly and a complex brain malformation is reported. Magnetic resonance imaging revealed an abnormal gyral pattern with features of the agyria-pachygyria spectrum, partial agenesis of the corpus callosum, severely hypoplastic posterior cerebellar vermis, and an abnormal foliation pattern of the cerebellar hemispheres associated with a flat and wide isthmus and pons. Although this phenotype shares some features with malformations classified as microcephaly with a simplified gyral pattern, microlissencephaly, or lissencephaly with cerebellar hypoplasia, none of the several subgroups of these categories are identical to the cerebral dysgenesis found in this patient.
UR - http://www.scopus.com/inward/record.url?scp=16844364796&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=16844364796&partnerID=8YFLogxK
U2 - 10.1177/08830738050200021301
DO - 10.1177/08830738050200021301
M3 - Article
C2 - 15794192
AN - SCOPUS:16844364796
SN - 0883-0738
VL - 20
SP - 170
EP - 172
JO - Journal of Child Neurology
JF - Journal of Child Neurology
IS - 2
ER -