Cobblestone Malformation

  • Cobblestone malformation is caused due to over migration of neurons through the gaps in the pial limiting membrane and extending into the subarachnoid space. Previously subcategorized as type II lissencephaly , it has now been reclassified as a distinct entity. MRI depicts bilateral symmetrical , irregularly pebbled undersulcated cortex with jagged appearance of the cortex – white matter junction. Dysmorphic brainstem and cerebellar microcysts are well documented posterior fossa abnormalities specifically associated with dystroglycanopathy involving POMT1, POMT2, POMGNT1, FCMD, FKRP, and LARGE genetic mutations.

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Lissencephaly

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Dysgyria