Presentation
Hypotonia and developmental delay.
Patient Data
Smooth surface of the cerebrum with a thick cortex.
Undulated grey-white matter junction with diffuse white matter hypomyelination.
Tigroid-like tripes are noted at T2, traversing abnormal white matter and cortex.
Mild ventriculomegaly.
Both cerebellums show abnormally high signal intensity foci at T2/FLAIR, consistent with abnormal myelination.
Cavum septum, pellucidum, and vergae are noted (normal variant).
Case Discussion
Lissencephaly type II (cobblestone lissencephaly) is characterized by a smooth surface of the cerebrum with a thick cortex and an undulated grey-white matter junction with diffuse white matter hypomyelination. It's often associated with congenital muscular dystrophy, including syndromes like:
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