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Dermatomyositis
Heather Borders, MD
over 6 years ago
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Lissencephaly with heterotopia

Case Detail

Anatomy: Brain-Spine
Borders
Heather Borders, MD
Diagnostic Category: Developmental or Congenital
Created: over 7 years ago
Updated: over 7 years ago
Tags: PEDS
Modality/Study Types: MRI
Activities:
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History

History of worsening seizures. Known diagnosis of Miller Dieker syndrome. No prior imaging.


Case Images


Diagnosis

Lissencephaly with nodular subependymal heterotopia

Findings

Smooth brain with absence of gyral and sulcal development. Diminished white matter with an outer cortical layer separated from the inner thicker cortical layer by a thin cell sparse zone. Foci of CSF intensity in the cell sparse zone and periventricular white matter may represnt dysplastic myelination. Multiple foci of nodular subependymal heterotopia are also present in this case.

Discussion

Neuroglial cells migrate along radial glial fibers with the help of various ligand interactions and cell adhesions. Various genetic mutations that affect this process will result in a spectrum of abnormal migration. A large deletion on 17p13.3 is seen with Miller Dieker.

Patients with classical lissencephaly, as in this case, are generally born with hypotonia. In patients with incomplete lissencephaly, clinical findings are usually less severe. Some patients with lissencephaly may have agenesis of the corpus callosum or cerebellar hypoplasia and these abnormalities should be looked for.

Miller Dieker syndrome is associated with type I lissencephaly as in this case. The patients will have characteristic facial features.

Reference

Barkovich fourth edition pediatric neuroimaging, pp. 346-
353.
Statdx, Lissencephaly by Susan Blaser 6-2-2008.



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