WEST VARIANT IN MILLER-DIEKER SYNDROME

Introduction. Miller-Dieker syndrome (MDs) is a severe malformative condition characterized by a smooth surface known also as lissencephaly . The syndrome is linked to a contiguous gene deletion of short arm of chromosome 17 (17p13.3) causing cerebral dysregulation. Affected children present with facial dysmorphisms, severe intellectual disability and drug resistant seizures. Infantile spasms are the most frequently reported types of seizures with the EEG recording presenting with the typical aspect of hypsarrhythmia. Case Report. Recently an infant with MDs was diagnosed soon after birth and followed up for 12 months with clinical and serial electroencephalographic (EEG) recording. During the course of the disorder, wide variability of the clinical and EEGraphic pattern were reported. At the age of 6 months the EEG showed a pattern of modified hypsarrhythmia without the classic clinical association with infantile spasms which recurred afterward. Conclusion. We have hypothesized the EEG pattern reported in this infant as an anticipation phenomenon of subsequent onset of infantile spasms.