Novel Proximal 14q Deletion: Clinical and Diffusion Tensor Imaging Tractography Findings in a Patient with Lissencephaly, Agenesis of the Corpus Callosum, and Septo-Optic Dysplasia

E.K Bravo,M.L White,Y.D Zhang,J.L Mcallister,A.H Olney

doi:10.3174/ajnr.a2745

E.K Bravo, M.L White + Show 3 more

Open Access

https://doi.org/10.3174/ajnr.a2745

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Abstract

We report the unique CNS findings in a patient with a proximal chromosome 14q interstitial deletion. Conventional MR imaging allowed the clear delineation of agenesis of the corpus callosum, SOD, and diffuse lissencephaly. DTI tractography played a significant role in the evaluation of the proximal 14q deletion-associated abnormalities, delineating the extent of the dysmorphic connections of the Probst bundles and clarifying that apparent areas of heterotopias were the corticospinal tracts.

Highlights

We report a patient with chromosome 14q deletion who has SOD, agenesis of the corpus callosum, and extensive lissencephalic brain abnormalities
DTI tractography was used in the evaluation of our patient (Fig 2)
This allowed better visualization of the aberrant white matter connections, which are often found in congenital CNS malformations and are not visualized with conventional MR imaging

Summary

CASE REPORT

Novel Proximal 14q Deletion: Clinical and Diffusion Tensor Imaging Tractography Findings in a Patient with Lissencephaly, Agenesis of the Corpus Callosum, and Septo-Optic Dysplasia. We report a patient with chromosome 14q deletion who has SOD, agenesis of the corpus callosum, and extensive lissencephalic brain abnormalities. The MR images demonstrated agenesis of the corpus callosum, posteriorly enlarged lateral ventricles with parallel orientation (colpocephaly), agenesis of the cingulate gyrus, absence of the septum pellucidum, lateral displacement of the fornices, atrophy of the optic chiasm, minimal hypoplasia of the inferior vermis, and extensive lissencephaly with possible heterotopias along the ventricular wall (Fig 1). DTI tractography further confirmed agenesis of the corpus callosum, along with formation of Probst bundles having dysmorphic and extensive connections to the temporal lobes and anterior internal capsules (left Ͼ right) (Fig 2AϪC). They were provided with genetic counseling regarding the patient’s de novo chromosome deletion

Discussion

PEDIATRICS CASE REPORT