Perinatology.  2017 Dec;28(4):171-176. 10.14734/PN.2017.28.4.171.

Type 1 Lissencephaly with Ocular Abnormality and Cranial Nerve Palsies

• Seo IA
• Cho SY
• Choi SM

• KMID: 2409127
• DOI: http://doi.org/10.14734/PN.2017.28.4.171

Abstract

Lissencephaly is a cerebral cortical malformation characterized by partial to total loss of gyri and sulci of brain leading to mental retardation and epilepsy. It is caused by failure of division and migration of neural cell in early embryonic period. Microdeletion or point mutation of LIS1 gene is mostly associated with type 1 lissencephaly. A newborn who presented abnormal face and unilateral facial nerve palsy was born and showed near complete agyria on brain MRI. She also has other cranial nerve palsies and ocular abnormalities (aniridia, microcornea and optic disc coloboma). Although we could not found a deletion of LIS1 gene, a case of type 1 lissencephaly with ocular abnormality and cranial nerve palsies is very rare. Therefore we report this case with literature investigations.

Keyword

Type 1 lissencephaly; Congenital aniridia; Cranial nerve palsies

MeSH Terms

Aniridia
Brain
Classical Lissencephalies and Subcortical Band Heterotopias*
Cranial Nerve Diseases*
Cranial Nerves*
Epilepsy
Facial Nerve
Genes, vif
Humans
Infant, Newborn
Intellectual Disability
Lissencephaly
Magnetic Resonance Imaging
Paralysis
Point Mutation

Figure

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  Fig. 1 The patient's appearance showing high prominent forehead, hypertelorism and Rt. facial nerve palsy.

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  Fig. 2 The patient's skull AP X-ray showing that both parietal bones are dominant.

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  Fig. 3 The patient's brain magnetic resonance imaging T2W axial image (A), coronal image (B), sagittal image (C) showing near complete agyria with doube cortex in both cerebral hemispheres.

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  Fig. 4 The patient's anterior segment image showing iris hypoplasia, about 40% of iris remnants with microcornea and inferiorly subluxated lens.

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  Fig. 5 The patient's fundus image showing optic disc coloboma. The disc shows a discrete, focal, glistening, white bowl-shaped excavation.

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