Pediatric fibrolamellar hepatocellular carcinoma: case report and review of the literature.

BACKGROUND: A 13-year-old boy presented with acute abdominal pain in the right upper quadrant without previous trauma. Abdominal ultrasound (US) revealed a mass in the right liver lobe with free intraperitoneal fluid, suggestive for hemoperitoneum. Magnetic resonance imaging confirmed a subcapsular lesion (5.7 × 4.6 × 4.1 cm), suggestive for fibrolamellar hepatocellular carcinoma (FL-HCC). Positron emission tomography-computed tomography revealed mild to moderate fluorodeoxyglucose (FDG) avidity, with no other FDG avid lesions. Hepatic tumor markers were negative. CASE REPORT: An elective right hepatectomy with cholecystectomy and hilar lymph node resection was performed. RESULTS: Histology showed a central fibrous scar and confirmed a FL-HCC (pT1bN0M0). The resected lymph nodes were tumor-free. Treatment of FL-HCC should consist of complete tumor resection with concurrent lymph node resection +/- orthotopic liver transplantation. Long-term follow-up is advised. A follow-up interval of 3-4 months in the first 2 years after surgical resection can be justified as FL-HCC have a high recurrence rate of more than 50% within 10-33 months. CONCLUSIONS: Malignancy can be a rare cause of abdominal pain in pediatric patients. An abdominal US is essential to prevent misdiagnosis. Treatment of FL-HCC should consist of R0 tumor resection with concurrent lymphadenectomy +/- orthotopic liver transplantation.

Novel BRPF1 mutation in a boy with intellectual disability, coloboma, facial nerve palsy and hypoplasia of the corpus callosum.

Mutations in the chromatin regulator gene BRPF1 were recently associated with the Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis (IDDDFP). Up till now, clinical data of 22 patients are reported. Besides intellectual disability (ID), ptosis and blepharophimosis are frequent findings, with refraction problems, amblyopia and strabism as other reported ophthalmological features. Animal studies indicate BRPF1 as an important mediator in brain development. However, only 5 of 22 previously reported patients show structural brain abnormalities. We report on an additional patient harboring a novel de novo nonsense mutation p.(Glu219*) in BRPF1. He presented with ID, bilateral iris colobomas, facial nerve palsy and severe hypoplasia of the corpus callosum. Our findings support previous findings of brain abnormalities in BRPF1-mutations and indicates coloboma and facial nerve palsy as possible additional features of IDDDFP syndrome.