Miller-Dieker syndrome: A report of a new case and review of the literature

Abstract

Miller-Dieker syndrome (MDS) is a gene deletion syndrome. It includes severe lissencephaly and a characteristic phenotypic appearance. Children with MDS also suffer from severe mental retardation, growth delay, epilepsy and occasionally hypsarrythmia on electroencephalogram. This disorder is invariably fatal in early childhood. Here, we report a new case of MDS associated with refractory atypical infantile spasms and severe mental retardation in a 3-year-old Tunisian boy. We emphasise the importance of prenatal diagnosis to avoid the recurrence of this severe handicap, particularly in the case of a familial reciprocal translocation.

Keywords

Miller-Dieker syndrome - classical lissencephaly - developmental delay - infantile spasms - atypical hypsarrythmia - deafness - FISH - 17p13.3 - prenatal diagnosis