{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T06:10:18Z","timestamp":1756275018411,"version":"3.44.0"},"reference-count":15,"publisher":"BMJ","issue":"3","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,3,21]]},"published-print":{"date-parts":[[2025,3]]},"abstract":"<jats:p>Encephalocraniocutaneous lipomatosis (ECCL) is a rare neurocutaneous multisystem disorder affecting ectodermal and mesodermal tissues, including the eyes, skin, adipose tissue and the brain. It is hypothesised to be a neural crest disorder. While ECCL presents with various neurological features, the occurrence of brain tumour is an extremely rare association. Here, we report a case of metachronous tumours comprising a dysembryoplastic neuroepithelial tumour (DNET) and a haemorrhagic chiasmal tumour in a patient with ECCL. To the best of our knowledge, this is the first documented case of ECCL presenting with subarachnoid haemorrhage (SAH) in the suprasellar region due to a tumorous bleed. A woman in her mid-20s presented with a sudden onset headache and altered sensorium. Non-contrast CT of the brain showed a focal bleed in the suprasellar region with gyriform cortical calcification in the left temporoparietal lobe and left optic globe calcification. Digital subtraction angiography was inconclusive. MRI of the brain showed intracranial and intraspinal lipomas with changes suggestive of previous surgery in the left temporal lobe. A focal bleed was noticed in the optic chiasm and pial angiomas in the left temporoparietal lobe. The patient had a history of a left temporal arachnoid cyst and dysplastic left temporal lobe, for which she underwent a left temporal lobectomy to manage drug-refractory epilepsy. Histopathological examination of the resected tissue revealed a DNET with focal cortical dysplasia. The diagnosis of ECCL was established, with associated metachronous tumours identified at multiple locations in the brain. The presence of a metachronous tumour in a patient with ECCL is a rare occurrence. Hence, clinicians should maintain a high index of suspicion and ensure that such patients are monitored through long-term follow-up, with regular screening to facilitate the early detection of a second tumour.<\/jats:p>","DOI":"10.1136\/bcr-2024-264724","type":"journal-article","created":{"date-parts":[[2025,3,31]],"date-time":"2025-03-31T08:23:05Z","timestamp":1743409385000},"page":"e264724","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Metachronous tumour (DNET and haemorrhagic chiasmal tumour) in a patient with encephalocraniocutaneous syndrome (ECCL)"],"prefix":"10.1136","volume":"18","author":[{"given":"Biswa Mohan","family":"Mishra","sequence":"first","affiliation":[{"name":"Neurology, Kalinga Institute of Medical Sciences, Bhubaneswar, Odisha, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ajay","family":"Garg","sequence":"additional","affiliation":[{"name":"All India Institute of Medical Sciences, New Delhi, Delhi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ashish","family":"Suri","sequence":"additional","affiliation":[{"name":"Neurosurgery, AIIMS New Delhi, New Delhi, Delhi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1146-2302","authenticated-orcid":false,"given":"Manoj Kumar","family":"Nayak","sequence":"additional","affiliation":[{"name":"All India Institute of Medical Sciences, Bhubaneswar, Odisha, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,3,31]]},"reference":[{"key":"2025082622395740000_18.3.e264724.1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1970.00480200050005"},{"key":"2025082622395740000_18.3.e264724.2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-1470.2006.00165.x"},{"key":"2025082622395740000_18.3.e264724.3","doi-asserted-by":"crossref","first-page":"2963","DOI":"10.1002\/ajmg.a.32074","article-title":"Brain anomalies in encephalocraniocutaneous lipomatosis","volume":"143A","author":"Moog","year":"2007","journal-title":"Am J Med Genet A"},{"key":"2025082622395740000_18.3.e264724.4","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2009.066068"},{"key":"2025082622395740000_18.3.e264724.5","doi-asserted-by":"crossref","first-page":"S139","DOI":"10.3345\/kjp.2016.59.11.S139","article-title":"A rare case of dysembryoplastic neuroepithelial tumor combined with 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glioblastoma to bevacizumab resulting in long-term clinical remission in a patient with encephalocraniocutaneous lipomatosis: A case report","volume":"5","author":"Fukaya","year":"2016","journal-title":"Mol Clin Oncol"},{"key":"2025082622395740000_18.3.e264724.12","doi-asserted-by":"crossref","DOI":"10.3389\/fped.2021.648717","article-title":"Case Report: A Case of Glioblastoma in a Patient With Haberland Syndrome","volume":"9","author":"Ferranti","year":"2021","journal-title":"Front Pediatr"},{"key":"2025082622395740000_18.3.e264724.13","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1213507"},{"key":"2025082622395740000_18.3.e264724.14","article-title":"Letter: \u201cThe neurocristopathies: a unifying concept of disease arising in neural crest development\u201d","volume":"6","author":"Benish","year":"1975","journal-title":"Hum 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