Abstract
Rhabdomyosarcoma (RMS) is the most common soft-tissue sarcoma in the paediatric age group, ranking fourth in frequency after central nervous system tumours, neuroblastomas and nephroblastomas. Embryonal RMS of the biliary tree is considered a rare entity, with the most common clinical presentation being that of obstructive jaundice. We present the case of a 4-year-old boy who presented with hepatomegaly and obstructive jaundice. Biochemically, there was evidence of elevated ductal enzymes with conjugated hyperbilirubinaemia. The magnetic resonance imaging (MRI) features were consistent with a biliary RMS with the differential diagnosis of a choledochal cyst initially included based on the computed tomography images. The diagnosis of embryonal biliary RMS was later confirmed on histology. This case illustrates the importance of considering malignant aetiologies in paediatric cases of obstructive jaundice, as this entity is infrequently described in the literature and may mimic the appearance of a choledochal cyst. The demonstration of enhancement of intraductal material within the biliary tree on MRI and the presence of arterial waveforms within the intraductal mass on ultrasound assists in the differentiation between biliary RMS and a choledochal cyst.
Highlights
Rhabdomyosarcoma (RMS) is a malignant tumour of skeletal cell morphology, with the most common sites in the paediatric population being the head and neck, genitourinary system and extremities.[1,2,3] Embryonal biliary RMS is considered a rare entity with only about 50 cases being described in the literature, the largest being a series involving 25 patients over a period of 25 years.[2]
The magnetic resonance imaging (MRI) features were consistent with a biliary RMS with the differential diagnosis of a choledochal cyst initially included based on the computed tomography (CT) images
Demonstration of enhancement of intraductal material within the biliary tree on MRI and the presence of arterial waveforms within the intraductal mass on US assists in the differentiation between biliary RMS and choledochal cyst filled with sludge.[3]
Summary
Rhabdomyosarcoma (RMS) is a malignant tumour of skeletal cell morphology, with the most common sites in the paediatric population being the head and neck, genitourinary system and extremities.[1,2,3] Embryonal biliary RMS is considered a rare entity with only about 50 cases being described in the literature, the largest being a series involving 25 patients over a period of 25 years.[2]. A 4-year-old boy presented with a 3-month history of yellow discolouration of his eyes, dark urine and pale stools as well as a 2-month progressive history of abdominal distension On physical examination, he was pale, had scleral icterus and the abdomen was distended with a large palpable liver. The abdominal ultrasound (US) demonstrated a heterogeneous periportal mass with internal flow on colour Doppler and associated dilatation of the common bile duct (CBD), cystic duct, gall bladder and intrahepatic bile ducts. Magnetic resonance cholangiopancreatography illustrated a dilated CBD with a large filling defect as well the previously noted findings of dilated intrahepatic bile ducts and pancreatic duct (Figure 5). A few days after initiating treatment, the patient became very ill in the ward His abdomen became very tense and distended which caused splinting of the diaphragm.
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