EP05.60: Partial agenesis of the corpus callosum and Coffin‐Siris syndrome: a case report

Agenesis of the corpus callosum is a rare congenital disorder. It is characterised by a partial or complete absence of the corpus callosum, an area of the brain that connects the two cerebral hemispheres. The cause of agenesis of the corpus callosum is usually not known, but it can be caused by an infection or injury during the twelfth to the twenty-second week of pregnancy leading to developmental disturbance of the fetal brain, by intrauterine exposure to alcohol and it can be inherited as either an autosomal recessive trait or an X-linked dominant trait. Symptoms range from minor intelligence issues to severe developmental delays and seizures. We describe the case of a patient examined at the 20th week scan in which the fetus was found to have a partial agenesis of the corpus callosum. Cerebral midline and facial anomalies (retrognathia) were observed. An amniocentesis was performed to rule out genetic disorders, and the result was reported as Coffin-Siris syndrome. Coffin-Siris syndrome (OMIM 135900 and others) is characterised by neurodevelopmental delay and may be accompanied by hypoplasia of the fifth digit and/or nail, distinct facial features, hypertrichosis, and a varying degree of congenital anomalies.1-6 In the current literature, most patients present with no prenatal ultrasound anomalies. Congenital diaphragmatic hernia, hypoplastic left heart syndrome, and intrauterine growth restriction have been occasionally described, whereas agenesis of the corpus callosum is observed frequently. As partial agenesis of the corpus callosum can be associated with a wide range of genetic disorders, genetic testing in these cases is crucial, as well as appropriate genetic counselling.