title: Papillary glioneuronal tumor present in a patient with encephalocraniocutaneous lipomatosis: case report.
abstract: BACKGROUND
  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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  The occurrence of PGNT, a tumor resulting from the maldevelopment of neuroepithelium, broadens the spectrum of ECCL to include some defects in the neuroepithelium.
authors.affiliation: Division of Pediatric Neurosurgery and Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul, Korea.
authors.forename: Ji Hoon
authors.initials: JH
authors.lastname: Phi
authors.forename: Sung-Hye
authors.initials: SH
authors.lastname: Park
authors.forename: Jong Hee
authors.initials: JH
authors.lastname: Chae
authors.forename: Kyu-Chang
authors.initials: KC
authors.lastname: Wang
authors.forename: Byung-Kyu
authors.initials: BK
authors.lastname: Cho
authors.forename: Seung-Ki
authors.initials: SK
authors.lastname: Kim
mesh_terms: D001932:Brain Neoplasms / Q000150:complications* / Q000175:diagnosis; D002648:Child; D005128:Eye Diseases / Q000150:complications / Q000175:diagnosis; D005260:Female; D005910:Glioma / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D007381:Intermediate Filament Proteins / Q000378:metabolism; D008068:Lipomatosis / Q000150:complications / Q000175:diagnosis; D008279:Magnetic Resonance Imaging / Q000379:methods; D018302:Neoplasms, Neuroepithelial / Q000150:complications* / Q000175:diagnosis; D009419:Nerve Tissue Proteins / Q000378:metabolism; D064231:Nestin; D020752:Neurocutaneous Syndromes / Q000150:complications / Q000175:diagnosis
chemical_list: D007381:Intermediate Filament Proteins; C577484:NES protein, human; D009419:Nerve Tissue Proteins; D064231:Nestin