Early fatal pontocerebellar hypoplasia with simplified cerebral gyration and pseudolissencephaly. A neuroradiological pitfall.
We report the observation of a child born at 38 5/7 weeks' gestation, who presented with marked microcephaly and suffered from persistent intractable epilepsy up to his death at the age of 5 days. Magnetic resonance imaging suggested lissencephaly. But interestingly no submicroscopical deletion in LIS-1 gene could be detected and true lissencephaly could not be confirmed histologically. Instead, primary degenerative process was considered the most probable cause of congenital pontocerebellar hypoplasia II in this case, which may be associated with a maturation delay of the cerebral hemispheres. The present case points to possible pitfalls in neuroradiological interpretation of simplified cerebral gyration and to the necessity to take into account cerebral pathologies leading to slowing or arrest of intrauterine cerebral development and delay of cerebral gyration.
Department of Radiology, University Hospital Basel, Basel, Switzerland. ahoffmann@uhbs.ch
Adrienne
A
Hoffmann
Peter
P
Weber
Catherine
C
Fallet-Bianco
Ernst-Wilhelm
EW
Radu
Alphonse
A
Probst
D001921:Brain / Q000002:abnormalities* / Q000473:pathology*; D002531:Cerebellum / Q000002:abnormalities / Q000473:pathology; D002540:Cerebral Cortex / Q000002:abnormalities / Q000473:pathology; D004453:Echoencephalography; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D008831:Microcephaly / Q000473:pathology; D011247:Pregnancy