A 14‐year‐old girl with lissencephaly and craniofacial dysmorphism

Abstract

The patient was born at 38 weeks gestation with body weight of 2700 g from non-consanguineous parents. She was the third child with two healthy brothers. At 2 months of age, she had afebrile seizures. She was admitted to hospital because of an epileptic state. Her chromosomal pattern was 46XX by G-band analysis. A deletion in the Miller-Dieker syndrome (MDS) region was confirmed by fluorescence in situ hybridization (FISH) for chromosomal testing. Brain CT/MRI revealed lissencephaly and dysgenesis of corpus callosum: the absence of rostrum and splenium (Fig. 1). Radiologically, no abnormalities were found in the body except the brain. At the age of 4 years, she was hospitalized at a nursing center. Profound mental and motor retardation, seizures and hypertonia were found. She suffered from repeated episodes of bronchitis/ pneumonia, depletion of carnitine, and chronic insufficiency of digestion. Gastrostomy was performed at 6 years of age owing to feeding problems. She died of pneumonia at 14 years of age.