{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T21:54:05Z","timestamp":1777672445637,"version":"3.51.4"},"reference-count":15,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T00:00:00Z","timestamp":1775001600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T00:00:00Z","timestamp":1775001600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Investigative Medicine High Impact Case Reports"],"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:p>\n                    Spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM) is a rare autosomal recessive neurodevelopmental disorder caused by pathogenic variants in the\n                    <jats:italic toggle=\"yes\">SLC1A4<\/jats:italic>\n                    gene. 24 cases have been reported worldwide. We describe a 30-month-old boy born to consanguineous parents, presenting with global developmental delay, seizures, progressive microcephaly, spastic tetraplegia, feeding difficulties, and recurrent infections. Genetic testing confirmed a homozygous pathogenic variant in\n                    <jats:italic toggle=\"yes\">SLC1A4<\/jats:italic>\n                    (p.Arg457Trp). Notably, our patient exhibited novel systemic phenotypic features, including grade 2 finger clubbing, recurrent infections, bilateral hernias, meatal stenosis, and dysmorphic features (high-arched palate, low-set ears, pectus carinatum). Brain MRI demonstrated a diffusely thin corpus callosum, a typical finding consistent with the classic SPATCCM phenotype. These previously unreported systemic features broaden the recognized phenotypic spectrum and underscore the need for genetic testing in suspected cases.\n                  <\/jats:p>","DOI":"10.1177\/23247096261440338","type":"journal-article","created":{"date-parts":[[2026,4,4]],"date-time":"2026-04-04T06:24:35Z","timestamp":1775283875000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Expanding the Phenotypic Spectrum of\n                    <i>SLC1A4<\/i>\n                    -Related Spastic Tetraplegia: A Case With Novel Multisystem Features"],"prefix":"10.1177","volume":"14","author":[{"given":"Ramzi H.","family":"Mujahed","sequence":"first","affiliation":[{"name":"Palestine Polytechnic University"},{"name":"Hebron Governmental Hospital"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-7302-7661","authenticated-orcid":false,"given":"Leyana","family":"Alawawdeh","sequence":"additional","affiliation":[{"name":"Palestine Polytechnic University"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-3219-7648","authenticated-orcid":false,"given":"Baraa","family":"Nassar","sequence":"additional","affiliation":[{"name":"Palestine Polytechnic University"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ranya Abu","family":"Khalaf","sequence":"additional","affiliation":[{"name":"Palestine Polytechnic University"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adam Hafiz","family":"Qabaha","sequence":"additional","affiliation":[{"name":"Palestine Polytechnic University"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-9578-1105","authenticated-orcid":false,"given":"Taha Z.","family":"Makhlouf","sequence":"additional","affiliation":[{"name":"Palestine Polytechnic University"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2026,4,3]]},"reference":[{"key":"e_1_3_7_2_2","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2023.1183574"},{"key":"e_1_3_7_3_2","doi-asserted-by":"publisher","DOI":"10.1177\/2329048X19880647"},{"key":"e_1_3_7_4_2","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12605"},{"key":"e_1_3_7_5_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2015-103104"},{"key":"e_1_3_7_6_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-0044-1778705"},{"key":"e_1_3_7_7_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awae134"},{"key":"e_1_3_7_8_2","doi-asserted-by":"publisher","DOI":"10.24966\/GGS-2485\/100017"},{"key":"e_1_3_7_9_2","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12637"},{"key":"e_1_3_7_10_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-013-9592-4"},{"key":"e_1_3_7_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2009.10.012"},{"key":"e_1_3_7_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2016.04.010"},{"key":"e_1_3_7_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2017.12.009"},{"key":"e_1_3_7_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.clineuro.2022.107283"},{"key":"e_1_3_7_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cmet.2016.12.011"},{"key":"e_1_3_7_16_2","doi-asserted-by":"publisher","DOI":"10.1080\/01677063.2018.1476510"}],"container-title":["Journal of Investigative Medicine High Impact Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/23247096261440338","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/23247096261440338","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/23247096261440338","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T08:04:58Z","timestamp":1777449898000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/23247096261440338"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,4]]},"references-count":15,"alternative-id":["10.1177\/23247096261440338"],"URL":"https:\/\/doi.org\/10.1177\/23247096261440338","relation":{},"ISSN":["2324-7096","2324-7096"],"issn-type":[{"value":"2324-7096","type":"print"},{"value":"2324-7096","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,4]]},"article-number":"23247096261440338"}}