{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,3]],"date-time":"2026-02-03T09:23:27Z","timestamp":1770110607503,"version":"3.49.0"},"reference-count":34,"publisher":"Journal of Neurosurgery Publishing Group (JNSPG)","issue":"17","license":[{"start":{"date-parts":[[2025,4,28]],"date-time":"2025-04-28T00:00:00Z","timestamp":1745798400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Cosmet Laser Ther"],"published-print":{"date-parts":[[2025,4,28]]},"abstract":"\n BACKGROUND<\/jats:title>\n Encephalocraniocutaneous lipomatosis (ECCL) is a rare neurocutaneous syndrome composed of a spectrum of congenital cutaneous, ocular, and brain anomalies. Principal anomalies include nevus psiloliparus lesions of the scalp, ocular choristomas consisting of dermolipomas, and intracranial lipomas and arachnoid cysts. The hypothesized pathogenic basis in ECCL is a developmental mesenchymal defect involving neural crest cell derivatives. Management is typically focused on treating symptoms, directed at the organ system and supportive neurorehabilitation. Reports to date have only focused on pharmacotherapeutic treatment of drug-refractory epilepsy (DRE), a principal neurological phenotype. Surgical management of medication-refractory epilepsy, which can occur in up to 70% of ECCL subjects, has not been described to date.<\/jats:p>\n <\/jats:sec>\n \n OBSERVATIONS<\/jats:title>\n The authors present an illustrative case report of a 4-year-old girl with ECCL who developed DRE and underwent a functional hemispherectomy for seizure relief. The clinical course, diagnostic evaluation, and surgical treatment are described, with emphasis on surgical-pathological observations.<\/jats:p>\n <\/jats:sec>\n \n LESSONS<\/jats:title>\n To the authors\u2019 knowledge, surgical treatment for hemispheric onset DRE in the context of ECCL has not been reported. Systemic and clinical features on presentation are reviewed to highlight aberrant mesenchymal differentiation as the developmental basis for the syndrome. The authors also underscore the role of functional hemispherectomy in the treatment of DRE in the context of a genetic\/developmental syndrome.<\/jats:p>\n \n https:\/\/thejns.org\/doi\/10.3171\/CASE2578<\/jats:ext-link>\n <\/jats:p>\n <\/jats:sec>","DOI":"10.3171\/case2578","type":"journal-article","created":{"date-parts":[[2025,4,28]],"date-time":"2025-04-28T20:14:10Z","timestamp":1745871250000},"source":"Crossref","is-referenced-by-count":0,"title":["Functional hemispherectomy for seizure control in encephalocraniocutaneous lipomatosis: illustrative case"],"prefix":"10.3171","volume":"9","author":[{"given":"Joyce","family":"Koueik","sequence":"first","affiliation":[{"name":"Department of Neurological Surgery, University of Wisconsin, Madison, Wisconsin"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Hsu","sequence":"additional","affiliation":[{"name":"Department of Neurology, University of Wisconsin, Madison, Wisconsin"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jeffrey","family":"Helgager","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, University of Wisconsin, Madison, Wisconsin"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raheel","family":"Ahmed","sequence":"additional","affiliation":[{"name":"Department of Neurological Surgery, University of Wisconsin, Madison, Wisconsin"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1754","reference":[{"issue":"2","key":"bib1","series-title":"Arch Neurol","first-page":"144","article-title":"Encephalocraniocutaneous lipomatosis. A new example of ectomesodermal dysgenesis","volume":"22","author":"Haberland","year":"1970","unstructured":"Haberland CPerou M.Encephalocraniocutaneous lipomatosis. A new example of ectomesodermal dysgenesis. Arch Neurol. 1970;22(2):144-155."},{"issue":"3","key":"bib2","series-title":"Am J Hum Genet","first-page":"579","article-title":"Mosaic activating mutations in FGFR1 cause encephalocraniocutaneous lipomatosis","volume":"98","author":"Bennett","year":"2016","unstructured":"Bennett JTTan TYAlcantara DMosaic activating mutations in FGFR1 cause encephalocraniocutaneous lipomatosis. Am J Hum Genet. 2016;98(3):579-587."},{"issue":"2","key":"bib3","series-title":"Pediatr Dev Pathol","first-page":"180","article-title":"Expending the phenotypic spectrum of encephalocraniocutaneous lipomatosis: about a prenatal case with complete autopsy","volume":"25","author":"Cattin","year":"2022","unstructured":"Cattin JFormet JSartelet HLenoir MRiethmuller DCollardeau-Frachon S.Expending the phenotypic spectrum of encephalocraniocutaneous lipomatosis: about a prenatal case with complete autopsy. Pediatr Dev Pathol. 2022;25(2):180-185."},{"issue":"24","key":"bib4","series-title":"Am J Med Genet A","first-page":"2963","article-title":"Brain anomalies in encephalocraniocutaneous lipomatosis","volume":"143A","author":"Moog","year":"2007","unstructured":"Moog UJones MCViskochil DHVerloes AVan Allen MIDobyns WB.Brain anomalies in encephalocraniocutaneous lipomatosis. Am J Med Genet A. 2007;143A(24):2963-2972."},{"key":"bib5","article-title":"Encephalocraniocutaneous lipomatosis","author":"Moog","year":"2022","unstructured":"Moog UDobyns WB.Encephalocraniocutaneous lipomatosis. In: Adam MP, Feldman J, Mirzaa GM, et al., eds. GeneReviews\u00ae [Internet]. University of Washington; 2022."},{"issue":"11","key":"bib6","series-title":"J Med Genet","first-page":"721","article-title":"Encephalocraniocutaneous lipomatosis","volume":"46","author":"Moog","year":"2009","unstructured":"Moog U.Encephalocraniocutaneous lipomatosis. J Med Genet. 2009;46(11):721-729."},{"issue":"3","key":"bib7","series-title":"J Neurooncol","first-page":"437","article-title":"Low-grade astrocytoma in a child with encephalocraniocutaneous lipomatosis","volume":"96","author":"Brassesco","year":"2010","unstructured":"Brassesco MSValera ETBecker APLow-grade astrocytoma in a child with encephalocraniocutaneous lipomatosis. J Neurooncol. 2010;96(3):437-441."},{"issue":"suppl 1","key":"bib8","series-title":"Korean J Pediatr","first-page":"S139","article-title":"A rare case of dysembryoplastic neuroepithelial tumor combined with encephalocraniocutaneous lipomatosis and intractable seizures","volume":"59","author":"Han","year":"2016","unstructured":"Han JYYum MSKim EHHong SKo TS.A rare case of dysembryoplastic neuroepithelial tumor combined with encephalocraniocutaneous lipomatosis and intractable seizures. Korean J Pediatr. 2016;59(suppl 1):S139-S144."},{"key":"bib9","series-title":"Seizure","first-page":"124","article-title":"Surgical outcomes of patients with genetically refractory epilepsy: a systematic review and meta-analysis","volume":"120","author":"Cui","year":"2024","unstructured":"Cui TYWu HTang CYWang XFLi TFZhou J.Surgical outcomes of patients with genetically refractory epilepsy: a systematic review and meta-analysis. Seizure. 2024;120:124-134."},{"issue":"2","key":"bib10","series-title":"Epileptic Disord","first-page":"99","article-title":"Epilepsy surgery for patients with genetic refractory epilepsy: a systematic review","volume":"20","author":"Stevelink","year":"2018","unstructured":"Stevelink RSanders MWTuinman MPEpilepsy surgery for patients with genetic refractory epilepsy: a systematic review. Epileptic Disord. 2018;20(2):99-115."},{"issue":"7","key":"bib11","series-title":"Childs Nerv Syst","first-page":"2153","article-title":"Hemispherotomy for pediatric epilepsy: a systematic review and critical analysis","volume":"37","author":"Lopez","year":"2021","unstructured":"Lopez AJBadger CKennedy BC.Hemispherotomy for pediatric epilepsy: a systematic review and critical analysis. Childs Nerv Syst. 2021;37(7):2153-2161."},{"issue":"10","key":"bib12","series-title":"Epilepsia","first-page":"1771","article-title":"Long-term functional outcomes and their predictors after hemispherectomy in 115 children","volume":"54","author":"Moosa","year":"2013","unstructured":"Moosa ANJehi LMarashly ALong-term functional outcomes and their predictors after hemispherectomy in 115 children. Epilepsia. 2013;54(10):1771-1779."},{"issue":"4","key":"bib13","series-title":"Neurology","first-page":"e410","article-title":"Comparison of hemispheric surgery techniques for pediatric drug-resistant epilepsy: an individual patient data meta-analysis","volume":"101","author":"Chen","year":"2023","unstructured":"Chen JSHarris WBWu KJComparison of hemispheric surgery techniques for pediatric drug-resistant epilepsy: an individual patient data meta-analysis. Neurology. 2023;101(4):e410-e424."},{"issue":"2","key":"bib14","series-title":"Neurol India","first-page":"127","article-title":"Hemispherotomy for intractable epilepsy","volume":"56","author":"Chandra","year":"2008","unstructured":"Chandra PSPadma VMShailesh GChandreshekar BSarkar CTripathi M.Hemispherotomy for intractable epilepsy. Neurol India. 2008;56(2):127-132."},{"issue":"1","key":"bib15","series-title":"J Neurosurg Pediatr","first-page":"34","article-title":"Hemispherectomy for treatment of refractory epilepsy in the pediatric age group: a systematic review","volume":"15","author":"Griessenauer","year":"2015","unstructured":"Griessenauer CJSalam SHendrix PHemispherectomy for treatment of refractory epilepsy in the pediatric age group: a systematic review. J Neurosurg Pediatr. 2015;15(1):34-44."},{"issue":"5","key":"bib16","series-title":"Epilepsia","first-page":"1064","article-title":"Hemispherectomy Outcome Prediction Scale: development and validation of a seizure freedom prediction tool","volume":"62","author":"Weil","year":"2021","unstructured":"Weil AGLewis ECIbrahim GMHemispherectomy Outcome Prediction Scale: development and validation of a seizure freedom prediction tool. Epilepsia. 2021;62(5):1064-1073."},{"issue":"8","key":"bib17","series-title":"Epilepsia","first-page":"1388","article-title":"Genomic microdeletions associated with epilepsy: not a contraindication to resective surgery","volume":"52","author":"Catarino","year":"2011","unstructured":"Catarino CBKasperavi\u010di\u016bt\u0117 DThom MGenomic microdeletions associated with epilepsy: not a contraindication to resective surgery. Epilepsia. 2011;52(8):1388-1392."},{"issue":"2","key":"bib1","series-title":"Arch Neurol","first-page":"144","article-title":"Encephalocraniocutaneous lipomatosis. A new example of ectomesodermal dysgenesis","volume":"22","author":"Haberland","year":"1970","unstructured":"Haberland CPerou M.Encephalocraniocutaneous lipomatosis. A new example of ectomesodermal dysgenesis. Arch Neurol. 1970;22(2):144-155."},{"issue":"3","key":"bib2","series-title":"Am J Hum Genet","first-page":"579","article-title":"Mosaic activating mutations in FGFR1 cause encephalocraniocutaneous lipomatosis","volume":"98","author":"Bennett","year":"2016","unstructured":"Bennett JTTan TYAlcantara DMosaic activating mutations in FGFR1 cause encephalocraniocutaneous lipomatosis. Am J Hum Genet. 2016;98(3):579-587."},{"issue":"2","key":"bib3","series-title":"Pediatr Dev Pathol","first-page":"180","article-title":"Expending the phenotypic spectrum of encephalocraniocutaneous lipomatosis: about a prenatal case with complete autopsy","volume":"25","author":"Cattin","year":"2022","unstructured":"Cattin JFormet JSartelet HLenoir MRiethmuller DCollardeau-Frachon S.Expending the phenotypic spectrum of encephalocraniocutaneous lipomatosis: about a prenatal case with complete autopsy. Pediatr Dev Pathol. 2022;25(2):180-185."},{"issue":"24","key":"bib4","series-title":"Am J Med Genet A","first-page":"2963","article-title":"Brain anomalies in encephalocraniocutaneous lipomatosis","volume":"143A","author":"Moog","year":"2007","unstructured":"Moog UJones MCViskochil DHVerloes AVan Allen MIDobyns WB.Brain anomalies in encephalocraniocutaneous lipomatosis. Am J Med Genet A. 2007;143A(24):2963-2972."},{"key":"bib5","article-title":"Encephalocraniocutaneous lipomatosis","author":"Moog","year":"2022","unstructured":"Moog UDobyns WB.Encephalocraniocutaneous lipomatosis. In: Adam MP, Feldman J, Mirzaa GM, et al., eds. GeneReviews\u00ae [Internet]. University of Washington; 2022."},{"issue":"11","key":"bib6","series-title":"J Med Genet","first-page":"721","article-title":"Encephalocraniocutaneous lipomatosis","volume":"46","author":"Moog","year":"2009","unstructured":"Moog U.Encephalocraniocutaneous lipomatosis. J Med Genet. 2009;46(11):721-729."},{"issue":"3","key":"bib7","series-title":"J Neurooncol","first-page":"437","article-title":"Low-grade astrocytoma in a child with encephalocraniocutaneous lipomatosis","volume":"96","author":"Brassesco","year":"2010","unstructured":"Brassesco MSValera ETBecker APLow-grade astrocytoma in a child with encephalocraniocutaneous lipomatosis. J Neurooncol. 2010;96(3):437-441."},{"issue":"suppl 1","key":"bib8","series-title":"Korean J Pediatr","first-page":"S139","article-title":"A rare case of dysembryoplastic neuroepithelial tumor combined with encephalocraniocutaneous lipomatosis and intractable seizures","volume":"59","author":"Han","year":"2016","unstructured":"Han JYYum MSKim EHHong SKo TS.A rare case of dysembryoplastic neuroepithelial tumor combined with encephalocraniocutaneous lipomatosis and intractable seizures. Korean J Pediatr. 2016;59(suppl 1):S139-S144."},{"key":"bib9","series-title":"Seizure","first-page":"124","article-title":"Surgical outcomes of patients with genetically refractory epilepsy: a systematic review and meta-analysis","volume":"120","author":"Cui","year":"2024","unstructured":"Cui TYWu HTang CYWang XFLi TFZhou J.Surgical outcomes of patients with genetically refractory epilepsy: a systematic review and meta-analysis. Seizure. 2024;120:124-134."},{"issue":"2","key":"bib10","series-title":"Epileptic Disord","first-page":"99","article-title":"Epilepsy surgery for patients with genetic refractory epilepsy: a systematic review","volume":"20","author":"Stevelink","year":"2018","unstructured":"Stevelink RSanders MWTuinman MPEpilepsy surgery for patients with genetic refractory epilepsy: a systematic review. Epileptic Disord. 2018;20(2):99-115."},{"issue":"7","key":"bib11","series-title":"Childs Nerv Syst","first-page":"2153","article-title":"Hemispherotomy for pediatric epilepsy: a systematic review and critical analysis","volume":"37","author":"Lopez","year":"2021","unstructured":"Lopez AJBadger CKennedy BC.Hemispherotomy for pediatric epilepsy: a systematic review and critical analysis. Childs Nerv Syst. 2021;37(7):2153-2161."},{"issue":"10","key":"bib12","series-title":"Epilepsia","first-page":"1771","article-title":"Long-term functional outcomes and their predictors after hemispherectomy in 115 children","volume":"54","author":"Moosa","year":"2013","unstructured":"Moosa ANJehi LMarashly ALong-term functional outcomes and their predictors after hemispherectomy in 115 children. Epilepsia. 2013;54(10):1771-1779."},{"issue":"4","key":"bib13","series-title":"Neurology","first-page":"e410","article-title":"Comparison of hemispheric surgery techniques for pediatric drug-resistant epilepsy: an individual patient data meta-analysis","volume":"101","author":"Chen","year":"2023","unstructured":"Chen JSHarris WBWu KJComparison of hemispheric surgery techniques for pediatric drug-resistant epilepsy: an individual patient data meta-analysis. Neurology. 2023;101(4):e410-e424."},{"issue":"2","key":"bib14","series-title":"Neurol India","first-page":"127","article-title":"Hemispherotomy for intractable epilepsy","volume":"56","author":"Chandra","year":"2008","unstructured":"Chandra PSPadma VMShailesh GChandreshekar BSarkar CTripathi M.Hemispherotomy for intractable epilepsy. Neurol India. 2008;56(2):127-132."},{"issue":"1","key":"bib15","series-title":"J Neurosurg Pediatr","first-page":"34","article-title":"Hemispherectomy for treatment of refractory epilepsy in the pediatric age group: a systematic review","volume":"15","author":"Griessenauer","year":"2015","unstructured":"Griessenauer CJSalam SHendrix PHemispherectomy for treatment of refractory epilepsy in the pediatric age group: a systematic review. J Neurosurg Pediatr. 2015;15(1):34-44."},{"issue":"5","key":"bib16","series-title":"Epilepsia","first-page":"1064","article-title":"Hemispherectomy Outcome Prediction Scale: development and validation of a seizure freedom prediction tool","volume":"62","author":"Weil","year":"2021","unstructured":"Weil AGLewis ECIbrahim GMHemispherectomy Outcome Prediction Scale: development and validation of a seizure freedom prediction tool. Epilepsia. 2021;62(5):1064-1073."},{"issue":"8","key":"bib17","series-title":"Epilepsia","first-page":"1388","article-title":"Genomic microdeletions associated with epilepsy: not a contraindication to resective surgery","volume":"52","author":"Catarino","year":"2011","unstructured":"Catarino CBKasperavi\u010di\u016bt\u0117 DThom MGenomic microdeletions associated with epilepsy: not a contraindication to resective surgery. Epilepsia. 2011;52(8):1388-1392."}],"container-title":["Journal of Neurosurgery: Case Lessons"],"original-title":[],"link":[{"URL":"https:\/\/thejns.org\/view\/journals\/j-neurosurg-case-lessons\/9\/17\/article-CASE2578.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/thejns.org\/downloadpdf\/journals\/j-neurosurg-case-lessons\/9\/17\/article-CASE2578.xml","content-type":"text\/html","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/thejns.org\/downloadpdf\/journals\/j-neurosurg-case-lessons\/9\/17\/article-CASE2578.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,2]],"date-time":"2026-02-02T23:38:11Z","timestamp":1770075491000},"score":1,"resource":{"primary":{"URL":"https:\/\/thejns.org\/view\/journals\/j-neurosurg-case-lessons\/9\/17\/article-CASE2578.xml"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4,28]]},"references-count":34,"journal-issue":{"issue":"17"},"URL":"https:\/\/doi.org\/10.3171\/case2578","relation":{},"ISSN":["2694-1902"],"issn-type":[{"value":"2694-1902","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,4,28]]}}}