{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:41:38Z","timestamp":1777804898428,"version":"3.51.4"},"reference-count":30,"publisher":"SAGE Publications","issue":"10","license":[{"start":{"date-parts":[[2025,4,30]],"date-time":"2025-04-30T00:00:00Z","timestamp":1745971200000},"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":["J Child Neurol"],"published-print":{"date-parts":[[2025,11]]},"abstract":"<jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>\n                      Heimler syndrome 1 is a group of peroxisomal biogenesis disorders due to the pathogenic variations in the peroxisomal biogenesis factor 1 (\n                      <jats:italic toggle=\"yes\">PEX1<\/jats:italic>\n                      ) gene resulting in the dysfunction of intracellular peroxisomes.\n                      <jats:italic toggle=\"yes\">PEX1<\/jats:italic>\n                      gene encodes proteins that are involved in the import of peroxisomal matrix proteins.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Patients<\/jats:title>\n                    <jats:p>A 6-year-old boy, second born to nonconsanguineous parents, presented with global developmental delay, progressive hearing loss, and night blindness. He had an uneventful antenatal and perinatal period. He had a significant family history with similar complaints of global developmental delay and progressive hearing loss in a 3-year-old younger sibling.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Ophthalmologic evaluation of both siblings revealed bilateral retinitis pigmentosa. Brainstem evoked response audiometry was suggestive of bilateral sensorineural hearing loss. Brain magnetic resonance imaging (MRI) of the index child revealed T2-weighted and fluid-attenuated inversion recovery hyperintensity involving the splenium of the corpus callosum, bilateral periatrial white matter without diffusion restriction. Whole exome sequencing revealed a heterozygous 5\u2032 splice site variant in intron-21 affecting donor splice site of exon-21 (c.3438+2T&gt;C), and a heterozygous missense variant in exon-5 (p.Thr173Asn) of the\n                      <jats:italic toggle=\"yes\">PEX1<\/jats:italic>\n                      gene.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      We report 2 cases of Heimler syndrome 1 with novel neuroimaging features with a review of the literature available on this very rare entity. Heimler syndrome 1 is a rare peroxisomal biogenesis disorder presenting with bilateral sensorineural hearing loss, retinitis pigmentosa, teeth, and nail changes. Children presenting with similar phenotypes should be genetically tested for pathogenic variations of\n                      <jats:italic toggle=\"yes\">PEX1<\/jats:italic>\n                      and\n                      <jats:italic toggle=\"yes\">PEX6<\/jats:italic>\n                      genes, as there are currently no biochemical signatures available for diagnosing Heimler syndrome and significant clinical overlap with other syndromes.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/08830738251335053","type":"journal-article","created":{"date-parts":[[2025,4,30]],"date-time":"2025-04-30T23:40:04Z","timestamp":1746056404000},"page":"832-837","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Heimler Syndrome: A Report of 2 Indian Children With Review of Literature"],"prefix":"10.1177","volume":"40","author":[{"given":"Asha","family":"Bilamge","sequence":"first","affiliation":[{"name":"Department of Pediatrics, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3494-8863","authenticated-orcid":false,"given":"Pradeep Kumar","family":"Gunasekaran","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, NYC Health + Hospitals\/Harlem, New York, NY, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ashna","family":"Kumar","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rahul","family":"Gupta","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kandha Kumar","family":"U.K.","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarbesh","family":"Tiwari","sequence":"additional","affiliation":[{"name":"Department of Diagnostic and Interventional Radiology, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3153-0736","authenticated-orcid":false,"given":"Lokesh","family":"Saini","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2025,4,30]]},"reference":[{"key":"e_1_3_2_2_2","unstructured":"Online Mendelian Inheritance in Man OMIM\u00ae. Johns Hopkins University Baltimore MD. OMIM Entry - # 234580 - Heimler syndrome 1; HMLR1. Available from: https:\/\/www.omim.org\/entry\/234580."},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.08.011"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-019-1243-x"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/0039-6257(91)90185-I"},{"key":"e_1_3_2_6_2","doi-asserted-by":"publisher","DOI":"10.1080\/13816810.2018.1432063"},{"key":"e_1_3_2_7_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-015-0368-9"},{"key":"e_1_3_2_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320390214"},{"key":"e_1_3_2_9_2","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-030-60204-8_7"},{"key":"e_1_3_2_10_2","unstructured":"Orphanet. INSERM (French National Institute for Health and Medical Research. Orphanet Entry - ORPHA:3220 - Heimler syndrome. 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