HEPATOBLASTOMA IN EDWARD SYNDROME – A CASE REPORT WITH RADIOLOGICAL REVIEW

Dr. Sanjay M. Khaladkar*, Dr. Akshay Alawadi, Dr. Mitesh Bhalla, Dr. Shantanu Singh Tomar, Dr. Vipul Sehrawat and Dr. S. G. Gandage

ABSTRACT

Trisomy 18 (Edward syndrome) is a rare entity with incidence of 1 in 3000 to 1 in 7000 births. Less than 10 % of patients survive beyond 1 year of age. This influences the fact that malignant tumors are rarely reported in association with Edward syndrome. Hepatoblastoma is a rare tumor of infancy and childhood with an annual incidence rate of 1.8 per million in children less than 15 years of age. Both trisomy 18 and hepatoblastoma are rare conditions. Hence, a child with trisomy 18 developing hepatoblastoma is very rare. Existence of hepatoblastoma in trisomy 18 indicates a significant association. Trisomy 18 probably potentiates development of hepatoblastoma. Till now 8 cases of hepatoblastoma with trisomy 18 have been published. We report a case of a 9 month old female child of Edward syndrome with PDA and VSD referred for ultrasound scan of abdomen for failure to thrive. USG showed enlarged right hepatic lobe due to a well defined mixed echoic predominantly hypoechoic solid lesion showing mild central vascularity on color doppler. CECT abdomen showed a large well defined spherical, solid, predominantly hypodense mass in right hepatic lobe involving segments V to VIII on plain study, showing near homogeneous contrast enhancement on portal venous phase and appearing hypodense with respect to adjacent hepatic parenchyma in delayed phase with few central non-enhancing areas of necrosis.

Keywords: Hepatoblastoma, hypodense, Doppler.