Ellis-Van Creveld syndrome associated with nodular sclerosing Hodgkin's disease and nephrotic syndrome.

ABSTRACT

An 11-year-old male child presented with multiple congenital anomalies, gradually increasing swelling on the left side of neck for one month along with generalized swelling of body and passage of scanty urine for fifteen days. On examination, the child had multiple congenital anomalies and cervical lymphadenopathy. Cardiac examination revealed a pansystolic murmur grade III/VI in left lower parasternal area. Laboratory evaluation revealed significant hypoalbuminemia and hypercholesterolemia, 24 hours urinary protein was 116 mg/hour/m2. Histopathological examination of left cervical lymphnode revealed Hodgkin's disease (Nodular Sclerosing type), 2D echocardiography revealed presence of a single atrium. A diagnosis of Ellis-van Creveld syndrome with nodular sclerosing Hodgkin's disease and nephrotic syndrome was kept. This association, to the best of our knowledge has not been previously reported.