Lissencephaly with brainstem and cerebellar hypoplasia and congenital cataracts

J Child Neurol. 2014 Jun;29(6):860-4. doi: 10.1177/0883073813485637. Epub 2013 Apr 26.

Abstract

Classical lissencephaly may be associated with cerebellar hypoplasia and when significant cerebellar abnormalities occur, defects in proteins encoded by TUBA1A, RELN, and very-low-density lipoprotein receptor (VLDLR) genes have been reported. We present a neonate with a severe neurologic phenotype associated with hypotonia, oropharyngeal incoordination that required a gastric tube for feeding, intractable epilepsy, and congenital cataracts. Her brain magnetic resonance imaging (MRI) showed classical lissencephaly, ventriculomegaly, absent corpus callosum, globular and vertical hippocampi, and severe cerebellar and brainstem hypoplasia. She died at 6 weeks of age. No specific molecular diagnosis was made. This likely represents a previously undescribed genetic lissencephaly syndrome.

Keywords: cataracts; cerebellar hypoplasia; lissencephaly; neuronal migration disorder; pachygyria.

MeSH terms

  • Brain Stem / pathology*
  • Cataract / complications*
  • Cerebellum / abnormalities*
  • Developmental Disabilities / complications
  • Female
  • Humans
  • Infant, Newborn
  • Lissencephaly / complications*
  • Magnetic Resonance Imaging
  • Nervous System Malformations / complications*
  • Reelin Protein

Supplementary concepts

  • Cerebellar Hypoplasia