Neuroimaging of Koolen-De Vries Syndrome: A Rare Genetic Disorder

Koolen-de Vries syndrome (KdVS) is a rare neurodevelopmental genetic disorder involving multiple organ systems. It is characterized by several abnormal neurological, behavioral, and skeletal features. This case describes a 12-year-old male who had been previously diagnosed with Koolen-de Vries syndrome and has a complex medical history. The patient exhibits many complications of KdVS, such as congenital heart disease, epilepsy, cryptorchidism, and cardiomegaly. Neuroimaging displayed a dysplastic corpus callosum, colpocephaly with mild lateral and third ventriculomegaly, and an ovoid dysmorphic appearance of the hippocampal formations. This case report serves as an educational exhibit for the neuroimaging findings and clinical features of KdVS to raise awareness of its presentation.