Related Experiment Video
Updated: Jun 8, 2026
An Orthotopic Sciatic Nerve Xenograft for Neurofibromatosis Type 1 Neurofibromas
Published on: October 10, 2025
Papillary glioneuronal tumor present in a patient with encephalocraniocutaneous lipomatosis: case report
Ji Hoon Phi1, Sung-Hye Park, Jong Hee Chae
1Division of Pediatric Neurosurgery and Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul, Korea.
Background And Importance:
Encephalocraniocutaneous lipomatosis (ECCL) is a rare neurocutaneous syndrome presumably derived from a mesenchymal defect. No cases of ECCL associated with a neuroepithelial brain tumor have been described. Papillary glioneuronal tumor (PGNT) is also a rare brain tumor of mixed neuronal and glial cells. We believe this is the first case of ECCL combined with a PGNT to be described. The presence of the PGNT may reflect the maldevelopment of neuroepithelium in this ECCL patient and suggests a novel explanation of the pathogenesis of ECCL.
Clinical Presentation:
A 7-year-old girl with congenital lesions in the brain, spinal cord, eye, and skin was diagnosed with ECCL. Brain magnetic resonance images taken at 6 months of age showed no brain tumor other than stigmata of ECCL. Brain magnetic resonance image at the time of presentation at 7 years revealed a mass in the third ventricle. The tumor was completely removed, and pathological examination confirmed the diagnosis of PGNT. The tumor showed a divergent differentiation pattern both in the tissue histology and in primary cultures.
Conclusion:
The occurrence of PGNT, a tumor resulting from the maldevelopment of neuroepithelium, broadens the spectrum of ECCL to include some defects in the neuroepithelium.
