Extreme microcephaly with agyria-pachygyria, partial agenesis of the corpus callosum, and pontocerebellar dysplasia.
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.
Sztriha
László
L
Department of Paediatrics, Faculty of Medicine and Health Sciences, United Arab Emirates University, Al Ain. sztriha@uaeu.ac.ae
Johansen
Johan G
JG
Al-Gazali
Lihadh I
LI
D000015:Abnormalities, Multiple / Q000473:pathology*; D061085:Agenesis of Corpus Callosum; D002531:Cerebellum / Q000002:abnormalities*; D002540:Cerebral Cortex / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D008297:Male; D008831:Microcephaly / Q000473:pathology*; D011149:Pons / Q000002:abnormalities*