Parenchymal Organ Changes in Two Female Patients With Cornelia de Lange Syndrome: Autopsy Case Report

Cornelia de Lange (CdLS) is a rare congenital disorder with multifactor etiology. The syndrome features a wide variety of physical and cognitive hallmarks such as distinctive facial appearance, small stature, bone, and gastrointestinal abnormalities. Two cases of patients clinically diagnosed with CdLS are reported. Both cases were diagnosed and treated at the St. Marina University Hospital, Varna, Bulgaria and were referred for autopsy after death. The first case was of a female patient, aged 7 and the second of a 17-years-old female. Both patients had a family history, severe features, and complications associated with CdLS. In both cases, the liver had normal anatomical proportions with a slightly flattened shape especially pronounced in the second case where the liver had a pyramidal shape with sharp edges. The kidneys in both patients were with a flattened pyramidal shape, with the tip located at the hilum and a base toward the lateral abdominal side. Both patients also had a pyramidal shaped spleen, again with the tip located at the hilum, with the second patient having multiple accessory spleens along the splenic artery. The cause of death in both patients was determined as complications from CdLS. The pyramidal form of the parenchymal organs is a manifestation that has so far not been described in CdLS patients. Despite atrophic organs sometimes having the same appearance, different organs are rarely affected identically, hence these changes can be considered as specific features of CdLS.