Case Report: Sequential Liver After Kidney Transplantation in a Patient With Sensenbrenner Syndrome (Cranioectodermal Dysplasia)

Sensenbrenner syndrome, also known as cranioectodermal dysplasia (CED), is a rare ciliopathy clinically characterized by congenital craniofacial, skeletal, and ectodermal defects. Chronic kidney and liver insufficiency are also present in this disorder. Cranioectodermal dysplasia is an autosomal recessive and heterogeneous genetic disease. Six genes (IFT122, WDR35, IFT140, IFT43, IFT52, and WDR19) are known to be associated with this syndrome. Until 2021 more than 70 patients have been reported with CED, however, an orthotopic liver transplantation has been reported only in one case. Here, we present a case report of sequential liver-after-kidney transplantation in a male patient affected by CED. The kidney and liver transplantation was performed at the age of 7 and 12 years, respectively. Patients with Sensenbrenner syndrome require a multidisciplinary medical management and should regularly be followed-up by hepatologists and nephrologists, as the liver and kidney diseases are the major cause of morbidity and mortality.

Automated summary

Sensenbrenner syndrome, also known as cranioectodermal dysplasia (CED), is a rare genetic disorder characterized by congenital craniofacial, skeletal, and ectodermal defects, as well as kidney and liver insufficiency. We present a case report of sequential liver-after-kidney transplantation in a patient with CED. Multidisciplinary medical management and regular follow-up by hepatologists and nephrologists are crucial for these patients, as liver and kidney diseases are the leading causes of morbidity and mortality.