{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,15]],"date-time":"2026-07-15T09:04:12Z","timestamp":1784106252442,"version":"3.55.0"},"reference-count":9,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2018,3,6]],"date-time":"2018-03-06T00:00:00Z","timestamp":1520294400000},"content-version":"vor","delay-in-days":33,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Epileptic Disorders"],"published-print":{"date-parts":[[2018,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Hemimegalencephaly is known to occur in Proteus syndrome, but has not been reported, to our knowledge, in the other <jats:italic>PTEN<\/jats:italic> mutation\u2010related syndrome of Bannayan\u2010Riley\u2010Ruvalcaba. Here, we report a patient with Bannayan\u2010Riley\u2010Ruvalcaba syndrome who also had hemimegalencephaly and in whom the hemimegalencephaly was evident well before presentation of the characteristic manifestations of Bannayan\u2010Riley\u2010Ruvalcaba syndrome. An 11\u2010year\u2010old boy developed drug\u2010resistant focal seizures on the fifth day of life. MRI revealed left hemimegalencephaly. He later showed macrocephaly, developmental delay, athetotic quadriplegic cerebral palsy, and neuromuscular scoliosis. Freckling of the penis, which is characteristic of Bannayan\u2010Riley\u2010Ruvalcaba syndrome, was not present at birth but was observed at 9 years of age. Gene analysis revealed a c.510 T&gt;G <jats:italic>PTEN<\/jats:italic> mutation. This patient and his other affected family members, his father and two siblings, were started on the tumour screening procedures recommended for patients with <jats:italic>PTEN<\/jats:italic> mutations. This case highlights the importance of early screening for <jats:italic>PTEN<\/jats:italic> mutations in cases of hemimegalencephaly not otherwise explained by another disorder, even in the absence of signs of Proteus syndrome or the full manifestations of Bannayan\u2010Riley Ruvalcaba syndrome.<\/jats:p>","DOI":"10.1684\/epd.2018.0954","type":"journal-article","created":{"date-parts":[[2019,8,2]],"date-time":"2019-08-02T13:24:29Z","timestamp":1564752269000},"page":"30-34","source":"Crossref","is-referenced-by-count":11,"title":["Hemimegalencephaly with Bannayan\u2010Riley\u2010Ruvalcaba syndrome"],"prefix":"10.1002","volume":"20","author":[{"given":"Ryan","family":"Ghusayni","sequence":"first","affiliation":[{"name":"Division of Pediatric Neurology, Department of Pediatrics Duke University Durham"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monisha","family":"Sachdev","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, Department of Pediatrics Duke University Durham"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William","family":"Gallentine","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, Department of Pediatrics Duke University Durham"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamad A","family":"Mikati","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, Department of Pediatrics Duke University Durham"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie T","family":"McDonald","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics Duke University Durham USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,3,6]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/bcr2626"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24357"},{"key":"e_1_2_10_4_1","unstructured":"EngC.PTEN hamartoma tumor syndrome. GeneReviews\u00ae.2016. Available at:https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1488\/."},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1177\/088307380201700512"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0897-333"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.10.e111"},{"key":"e_1_2_10_8_1","first-page":"129","volume-title":"Handbook of Clinical Neurology","author":"Mester J","year":"2015"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.1.52"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1086\/340026"}],"container-title":["Epileptic Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1684\/epd.2018.0954","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,18]],"date-time":"2024-03-18T16:04:36Z","timestamp":1710777876000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1684\/epd.2018.0954"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,2]]},"references-count":9,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2018,2]]}},"alternative-id":["10.1684\/epd.2018.0954"],"URL":"https:\/\/doi.org\/10.1684\/epd.2018.0954","archive":["Portico"],"relation":{},"ISSN":["1294-9361","1950-6945"],"issn-type":[{"value":"1294-9361","type":"print"},{"value":"1950-6945","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,2]]}}}