{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T03:05:03Z","timestamp":1760151903513,"version":"build-2065373602"},"reference-count":25,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2022,11,30]],"date-time":"2022-11-30T00:00:00Z","timestamp":1669766400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Brain Sciences"],"abstract":"<jats:p>Encephalocraniocutaneous lipomatosis (ECCL; Haberland syndrome, #613001) is an extremely rare congenital disorder that is manifested by the involvement of the skin, eyes and central nervous system (CNS). We report two cases of children with ECCL diagnosis. First was an 8-year-old girl who presented with symptomatic epilepsy, cerebral palsy and developmental delay. In 2020, she was admitted to the hospital due to the exacerbation of paresis and intensified prolonged epileptic seizures, provoked by infection of the middle ear. Diagnostic imaging revealed radiological changes suggestive of ECCL, providing a reason for the diagnosis, despite the lack of skin and eye anomalies. The second child, a 14-year-old girl, was consulted for subtle clinical signs and epilepsy suspicion. Diagnostic imaging findings were similar, though less pronounced. Based on neuroradiological abnormalities typical for Haberland syndrome, the authors discuss possible ECCL diagnosis.<\/jats:p>","DOI":"10.3390\/brainsci12121641","type":"journal-article","created":{"date-parts":[[2022,11,30]],"date-time":"2022-11-30T04:05:24Z","timestamp":1669781124000},"page":"1641","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Encephalocraniocutaneous Lipomatosis, a Radiological Challenge: Two Atypical Case Reports and Literature Review"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8807-5899","authenticated-orcid":false,"given":"Magdalena","family":"Machnikowska-Soko\u0142owska","sequence":"first","affiliation":[{"name":"Division of Diagnostic Imaging, Department of Radiology and Nuclear Medicine, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-752 Katowice, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Piotr","family":"Fabrowicz","sequence":"additional","affiliation":[{"name":"Diagnostic Imaging and Interventional Radiology Centre, The Independent Public Clinical Hospital No. 6, Medical University of Silesia, 40-752 Katowice, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6792-0985","authenticated-orcid":false,"given":"Jacek","family":"Pilch","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia in Katowice, 40-752 Katowice, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Weronika","family":"Roesler","sequence":"additional","affiliation":[{"name":"Student\u2019s Scientific Society, Department of Pediatric Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia in Katowice, 40-752 Katowice, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miko\u0142aj","family":"Ku\u017aniak","sequence":"additional","affiliation":[{"name":"Student\u2019s Scientific Society, Department of Pediatric Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia in Katowice, 40-752 Katowice, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katarzyna","family":"Gruszczy\u0144ska","sequence":"additional","affiliation":[{"name":"Division of Diagnostic Imaging, Department of Radiology and Nuclear Medicine, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-752 Katowice, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1794-8546","authenticated-orcid":false,"given":"Justyna","family":"Paprocka","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia in Katowice, 40-752 Katowice, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,11,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"580","DOI":"10.1542\/peds.61.4.580","article-title":"Encephalocraniocutaneous lipomatosis","volume":"61","author":"Fishman","year":"1978","journal-title":"Pediatrics"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"721","DOI":"10.1136\/jmg.2009.066068","article-title":"Encephalocraniocutaneous lipomatosis","volume":"46","author":"Moog","year":"2009","journal-title":"J. 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