“FAMILIAL LISSENCEPHALY”; CASE SERIES OF FIVE MORE CASES FROM TWO KINDRED

Objectives: The present case series describes the clinical, electroencephalographic, and neuroimaging findings of two subgroups of patients with familial lissencephaly: Three siblings of a family with “autosomal recessive isolated lissencephaly (ILS)” and a sibling pair with “autosomal recessive lissencephaly with cerebellar hypoplasia (LCH)”.

Methods: Retrospective analysis of case records, Neuroimaging and other investigations Results: The siblings with LCH had an initial period of normal development before loss of milestones. This history without ready availability of MRI and if available, without proper interpretation could have lead to the diagnosis of degenerative brain disease with hydrocephalus (these two children were referred with this diagnosis to us). Both these children are alive and there present clinical & functional status is better then the only living child (of the three children) with “autosomal recessive ILS”. It appears that autosomal recessive LCH could be a less severe form of lissencephaly then “autosomal recessive ILS”.

Conclusion: The patients with familial lissencephaly can have a period of normal development and head circumference. The seizures can start after infancy. The presence of neuroimaging feature of significant cerebellar hypoplasia with normal phenotype in patients with lissencephaly should raise the possibility of “autosomal recessive lissencephaly with cerebellar hypoplasia.