Uncommon Presentation Of Lissencephaly

Abstract

Introduction: Neuronal migration is a critical step for cortical development, and disruptions in this process can lead to disorders like lissencephaly, heterotopia, polymicrogyria, schizencephaly, and focal cortical dysgenesis, which cause developmental delays, intellectual disabilities, or epilepsy. Lissencephaly is the most common neuronal migration disorder in communities with parental consanguinity. 
Case report: A 5-month-old female, born to a four degree consanguineous marriage, presented with developmental delay and limb stiffness. Examination revealed cortical visual blindness and hearing impairment, increased muscle tone, especially in the lower limbs, head lag, and a rag-doll appearance on ventral suspension, indicating significant motor and developmental delays. 
Diagnosis: MRI of the brain showed bilateral ex-vacuo ventriculomegaly, including fourth ventricle and temporal horn dilatation with irregular margins. Findings included reduced white matter, delayed myelination, and pachygyria with limited sulci and gyri in the frontal region. Agenesis of the corpus callosum was also observed.