Das Miller-Dieker-syndrom

Abstract

Herein, we describe the case of a now 20 months old girl presenting postpartally with muscular hypotonia, prolonged respiratory adaptation, low birth weight, microcephaly and facial dysmorphism. To elaborate this case of a «floppy infant» in combination with other symptoms, a comprehensive evaluation including imaging techniques and laboratory tests was carried out. Magnetic resonance imaging (MRI) and ultrasound of the central nervous system revealed lissencephaly and dysgenesis of the corpus callosum. A FISH-(fluorescence in-situ hybridisation) analysis and an array-CGH (comparative genetic hybridization) was performed showing a deletion 17pl3.3 not including the YWAHE gene and confirming the diagnosis «Miller-Dieker-syndrome». This case report highlights that muscular hypotonia in combination with microcephaly and facial dysmorphism should draw the attention to malformations of cortical development, particularly if more common diagnoses like fetal alcohol spectrum disorders or connatal infections can be ruled out.