{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T11:19:27Z","timestamp":1790680767202,"version":"4.1.0"},"reference-count":21,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,10,22]],"date-time":"2022-10-22T00:00:00Z","timestamp":1666396800000},"content-version":"vor","delay-in-days":294,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Case Reports in Pediatrics"],"published-print":{"date-parts":[[2022,1]]},"abstract":"<jats:p>A pseudo\u2010TORCH syndrome is a rare autosomal recessive disease characterized by intracranial calcification and microcephaly, leading to spasticity and seizures, but the serology of TORCH infection is negative. We present a 4\u2010day\u2010old female patient with jaundice, abnormal movement, and convulsions who was found to be homozygous for the missense <jats:italic>USP18<\/jats:italic> gene mutation that causes pseudo\u2010TORCH syndrome 2 (PTORCH2). The patient was managed with conservative measures.<\/jats:p>","DOI":"10.1155\/2022\/3555532","type":"journal-article","created":{"date-parts":[[2022,10,22]],"date-time":"2022-10-22T18:05:08Z","timestamp":1666461908000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["A Case Report and Literature Review of Pseudo\u2010TORCH Syndrome Type 2 (PTORCH2)"],"prefix":"10.1155","volume":"2022","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6376-8805","authenticated-orcid":false,"given":"Rami A.","family":"Misk","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lama","family":"Qawasme","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fawzy M.","family":"Abunejma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-7331-2474","authenticated-orcid":false,"given":"Bahaa Ibrahim","family":"Abu Rahma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ehab Mohammad","family":"Abuawwad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raja Imad","family":"Abu Iram","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdulrahman Hussein","family":"Karaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tareq Z.","family":"Alzughayyar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1309-0880","authenticated-orcid":false,"given":"Jihad Samer","family":"Zalloum","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,10,22]]},"reference":[{"key":"e_1_2_8_1_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.20.3.210"},{"key":"e_1_2_8_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-444-59565-2.00031-9"},{"key":"e_1_2_8_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2017.09.002"},{"key":"e_1_2_8_4_2","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20151529"},{"key":"e_1_2_8_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32614"},{"key":"e_1_2_8_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20138"},{"key":"e_1_2_8_7_2","doi-asserted-by":"publisher","DOI":"10.4103\/1793-5482.145162"},{"key":"e_1_2_8_8_2","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20151529"},{"key":"e_1_2_8_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320520112"},{"key":"e_1_2_8_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/s0387-7604(00)00188-1"},{"key":"e_1_2_8_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2020.103923"},{"key":"e_1_2_8_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33358"},{"key":"e_1_2_8_13_2","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.a1694"},{"key":"e_1_2_8_14_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410150109"},{"key":"e_1_2_8_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.autrev.2012.08.012"},{"key":"e_1_2_8_16_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-013-1327-y"},{"key":"e_1_2_8_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.07.012"},{"key":"e_1_2_8_18_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32549"},{"key":"e_1_2_8_19_2","doi-asserted-by":"publisher","DOI":"10.1002\/glia.23634"},{"key":"e_1_2_8_20_2","first-page":"35","article-title":"Pseudo-torch-A rare mutation causing global development delay, microcephaly and extensive band like brain calcification","volume":"16","author":"Alvi J. 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