S2756 Hepatoblastoma in a Patient With Goldenhar Syndrome

Abstract

INTRODUCTION: Goldenhar Syndrome (GS) is a congenital defect characterized by the underdevelopment of the ears, soft palate, lip, and mandible. Only two cases have been reported in literature suggesting an association between hepatoblastoma and GS. Barton and Keller described an 8-year-old girl with GS and congenital absence of portal vein, who was found to have neoplastic invasion and hepatoblastoma on CT scan. Corona-Rivera et al, reported a case of hepatoblastoma in a patient with GS who was born to a diabetic mother. The underlying cause for this congenital syndrome is still poorly understood and its association with hepatic anomalies including hepatoblastoma is still unknown. We describe a 2-year-old girl with Goldenhar Syndrome diagnosed with hepatoblastoma after experiencing abdominal pain and constipation. CASE DESCRIPTION/METHODS: A 2-year old girl with diagnosis of Goldenhar syndrome based on physical exam findings of small bilateral ear tags, coloboma of the right upper eyelid, bilateral temporal lipodermoids, right limbal dermoid and mild ptosis of the right eye was brought to her pediatrician due to abdominal pain and constipation. CT scan of the abdomen showed hepatomegaly with heterogenous attenuation and calcified, low-attenuation mass components. Beta-human chorionic gonadotropin was slightly elevated and alpha fetoprotein was significantly elevated at 115,000 ng/mL. Liver biopsy results were positive for epithelial hepatoblastoma with fetal and embryonal patterns. After chemotherapy failed to shrink the tumor, the patient received a successful liver transplant. DISCUSSION: To our knowledge this is the third case reported in literature of a patient with GS and hepatoblastoma. Commonly, patients with hepatoblastoma presents with no symptoms. However, the two previously reported cases and our case presented with severe constipation and abdominal pain. This may suggest a predisposition to this atypical presentation in patients with GS. The mechanism for this hypothesis is unknown and more studies would need to be conducted to confirm the association. Findings from this case can further support the argument that a relation exists between these two different entities. Additionally, there are no current recommendations regarding appropriate surveillance for liver neoplasm in patients with diagnosis of GS. We believe that new guidelines and diagnostic studies will become more widely available as the associations between hepatoblastoma and Goldenhar syndrome are established.Figure 1.: H&E at 40×, showing hepatoblastoma on liver biopsy.Figure 2.: Hepatoblastoma positive for Hep Par-1 at 20× on liver biopsy.Figure 3.: CT scan showing hepatomegaly with heterogenous attenuation and calcified, low-attenuation mass components.