Miller-Dieker Syndrome in an Extremely Low Birth Weight Infant

Abstract

Miller-Dieker syndrome (MDS) is characterized by severe lissencephaly and facial dysmorphism including the prominent forehead, bitemporal hollowing, a short nose with upturned nares, a protuberant upper lip, and a small jaw. MDS can be caused by deletions or mutations of the LIS1 gene on 17p13.3. Our patient was born at 28 +3 weeks gestation and weight 950 g at birth. He was suffered from respiratory distress syndrome and feeding intolerance. And he showed colpocephaly with agenesis of corpus callosum on the first brain ultrasonography. So, brain magnetic resonance imaging was performed 2 months of age and revealed agyria, colpocephaly, agenesis of corpus callosum and band heterotopias. At initial physical examination revealed no specific abnormal findings. However, hypotonia and abnormal facial morphology including prominent forehead, a short nose with upturned nares and protuberant upper lip were developed gradually as he got older. Chromosomal microarray was performed and confirmed microdeletion on 17p13.3. In conclusion, MDS should be considered when the baby shows colpocephaly, agenesis of corpus callosum, hypotonia, feeding problem and abnormal facial features even though the baby is preterm infant.