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.
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.
Authors: Elvis Terci Valera; María Sol Brassesco; Carlos Alberto Scrideli; Marcus Vinicius de Castro Barros; Antonio Carlos Santos; Ricardo Santos Oliveira; Hélio Rubens Machado; Luiz Gonzaga Tone Journal: Childs Nerv Syst Date: 2011-10-08 Impact factor: 1.475
Authors: James T Bennett; Tiong Yang Tan; Diana Alcantara; Martine Tétrault; Andrew E Timms; Dana Jensen; Sarah Collins; Malgorzata J M Nowaczyk; Marjorie J Lindhurst; Katherine M Christensen; Stephen R Braddock; Heather Brandling-Bennett; Raoul C M Hennekam; Brian Chung; Anna Lehman; John Su; SuYuen Ng; David J Amor; Jacek Majewski; Les G Biesecker; Kym M Boycott; William B Dobyns; Mark O'Driscoll; Ute Moog; Laura M McDonell Journal: Am J Hum Genet Date: 2016-03-03 Impact factor: 11.025
Authors: Elvis Terci Valera; Melissa K McConechy; Tenzin Gayden; Barbara Rivera; David T W Jones; Andrea Wittmann; HyeRim Han; Eric Bareke; Hamid Nikbakht; Leonie Mikael; Rosane Gomes Queiroz; Veridiana Kiill Suazo; Ji Hoon Phi; Seung-Ki Kim; Sung-Hye Park; Raita Fukaya; Mi-Sun Yum; Tae-Sung Ko; Ricardo Santos de Oliveira; Helio Rubens Machado; María Sol Brassesco; Antonio Carlos do Santos; Gustavo Novelino Simão; Leandra Náira Zambelli Ramalho; Luciano Neder; Carlos Alberto Scrideli; Luiz Gonzaga Tone; Jacek Majewski; Nada Jabado Journal: Acta Neuropathol Date: 2018-08-24 Impact factor: 17.088