Abstract A female patient was affected by an unusual picture of Van Maldergem syndrome (resembling Aicardi syndrome phenotype spectrum) with
Abstract A female patient was affected by an unusual picture of Van Maldergem syndrome (resembling Aicardi syndrome phenotype spectrum) with hypogenesia of the corpus callosum, choriorentinal lacunae, drug-resistant epilepsy and other brain malformations (polymicrogyria, cortical dysplasia, heterotopias and asymmetric ventricles), without facial anomalies nor skeletal abnormalities. A Next Generation Sequencing panel for epilepsy and brain malformations and a further WES analysis disclosed a compound heterozygosis of DCHS1 gene, which is the cause of Van Maldergem syndrome. Given the reduced pathogenicity of one of the two mutations, this patient may represent by a new subtype of Van Maldergem syndrome, without facial dysmorphism and skeletal abnormalities. It cannot be excluded, however, that Van Maldergem and Aicardi syndromes may share common genetic causes or pathways, as DCHS1 is located in proximity to TEAD1 (chromosome 11p15), which has been reported as causative of Aicardi syndrome in a single patient, and both proteins are involved in the Hippo pathway (which regulates cell growth and apoptosis).