Papillary glioneuronal tumor present in a patient with encephalocraniocutaneous lipomatosis: case report.
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.
Phi
Ji Hoon
JH
Division of Pediatric Neurosurgery and Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul, Korea.
Park
Sung-Hye
SH
Chae
Jong Hee
JH
Wang
Kyu-Chang
KC
Cho
Byung-Kyu
BK
Kim
Seung-Ki
SK
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
D007381:Intermediate Filament Proteins; C577484:NES protein, human; D009419:Nerve Tissue Proteins; D064231:Nestin