Agenesis of the corpus callosum and hepatoblastoma |
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| Authors: | Taylor M. Luckie Samara L. Potter Carlos A. Bacino Rachana Shah Andras Heczey Rajkumar Venkatramani |
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| Affiliation: | 1. Department of Pediatrics, Baylor College of Medicine, Houston, Texas;2. Department of Pediatrics, Texas Children's Cancer Center, Baylor College of Medicine, Houston, Texas;3. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas;4. Division of Hematology, Oncology and Blood and Marrow Transplantation, Children's Center for Cancer and Blood Diseases, Children's Hospital Los Angeles, Keck School of Medicine, University of Southern California, Los Angeles, California;5. Rajkumar Venkatramani, Department of Pediatrics, Texas Children's Cancer Center, Baylor College of Medicine, Houston, TX. |
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| Abstract: | Agenesis of the corpus callosum is a congenital brain malformation that can occur in isolation or as a component of a congenital syndrome. Hepatoblastoma (HB) is a rare tumor that comprises two thirds of primary hepatic neoplasms in children and adolescents. Up to 20% of children with HB have associated congenital anomalies. In addition to defined genetic syndromes such as Familial Adenomatous Polyposis, Beckwith–Wiedemann syndrome, Trisomy 13, and Trisomy 18, HB is significantly associated with kidney/bladder abnormalities. We present two children with multiple congenital anomalies, including agenesis of the corpus callosum, who were subsequently diagnosed with HB. Review of the literature revealed two patients with clinically‐diagnosed Aicardi syndrome and HB. Due to the rarity of both agenesis of the corpus callosum and HB, this is likely a true association. Further investigation into the underlying genetic and molecular basis of this probable association is warranted. |
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| Keywords: | agenesis of corpus callosum hepatoblastoma hepatoblastoma/genetics liver neoplasms/genetics |
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