{"id":"https://openalex.org/W7223577828","doi":"https://doi.org/10.1093/omcr/omag196","title":"Beyond pain: early Hypotonia and growth failure in congenital insensitivity to pain with Anhidrosis","display_name":"Beyond pain: early Hypotonia and growth failure in congenital insensitivity to pain with Anhidrosis","publication_year":2026,"publication_date":"2026-10-01","ids":{"openalex":"https://openalex.org/W7223577828","doi":"https://doi.org/10.1093/omcr/omag196","pmid":"https://pubmed.ncbi.nlm.nih.gov/42928800","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/13695949"},"language":"en","primary_location":{"id":"doi:10.1093/omcr/omag196","doi":"https://doi.org/10.1093/omcr/omag196","is_oa":true,"landing_page_url":"https://doi.org/10.1093/omcr/omag196","pdf_url":"https://academic.oup.com/omcr/article-pdf/2026/10/omag196/72508770/omag196.pdf","source":{"id":"https://openalex.org/S2734620550","display_name":"Oxford Medical Case Reports","issn_l":"2053-8855","issn":["2053-8855"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-d","jufo-1","norway-1","poland-40","russia-white-list-3","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Oxford Medical Case Reports","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://academic.oup.com/omcr/article-pdf/2026/10/omag196/72508770/omag196.pdf","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5037224194","display_name":"Siti Nur Syakinah Md Sabudin","orcid":"https://orcid.org/0000-0003-0553-7248","observed_orcids":["https://orcid.org/0000-0003-0553-7248"]},"institutions":[{"id":"https://openalex.org/I139322472","display_name":"Universiti Sains Malaysia","ror":"https://ror.org/02rgb2k63","country_code":"MY","type":"education","lineage":["https://openalex.org/I139322472"]},{"id":"https://openalex.org/I4210089400","display_name":"Hospital Universiti Sains Malaysia","ror":"https://ror.org/0090j2029","country_code":"MY","type":"healthcare","lineage":["https://openalex.org/I4210089400"]}],"countries":["MY"],"is_corresponding":false,"raw_author_name":"Siti Nur Syakinah Md Sabudin","raw_affiliation_strings":["Department of Family Medicine, School of Medical Sciences, Health Campus, Universiti Sains Malaysia , Kubang Kerian, Kelantan 16150 ,","Medical and Basic Dental Sciences Unit, School of Dental Sciences, Health Campus, Universiti Sains Malaysia , Kubang Kerian, Kelantan 16150 ,"],"raw_orcid":"https://orcid.org/0000-0003-0553-7248","affiliations":[{"raw_affiliation_string":"Department of Family Medicine, School of Medical Sciences, Health Campus, Universiti Sains Malaysia , Kubang Kerian, Kelantan 16150 ,","institution_ids":["https://openalex.org/I139322472","https://openalex.org/I4210089400"]},{"raw_affiliation_string":"Medical and Basic Dental Sciences Unit, School of Dental Sciences, Health Campus, Universiti Sains Malaysia , Kubang Kerian, Kelantan 16150 ,","institution_ids":["https://openalex.org/I139322472"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5089018387","display_name":"Nani Draman","orcid":"https://orcid.org/0000-0003-4143-6065","observed_orcids":["https://orcid.org/0000-0003-4143-6065"]},"institutions":[{"id":"https://openalex.org/I139322472","display_name":"Universiti Sains Malaysia","ror":"https://ror.org/02rgb2k63","country_code":"MY","type":"education","lineage":["https://openalex.org/I139322472"]},{"id":"https://openalex.org/I4210089400","display_name":"Hospital Universiti Sains Malaysia","ror":"https://ror.org/0090j2029","country_code":"MY","type":"healthcare","lineage":["https://openalex.org/I4210089400"]}],"countries":["MY"],"is_corresponding":true,"raw_author_name":"Nani Draman","raw_affiliation_strings":["Department of Family Medicine, School of Medical Sciences, Health Campus, Universiti Sains Malaysia , Kubang Kerian, Kelantan 16150 ,"],"raw_orcid":"https://orcid.org/0000-0003-4143-6065","affiliations":[{"raw_affiliation_string":"Department of Family Medicine, School of Medical Sciences, Health Campus, Universiti Sains Malaysia , Kubang Kerian, Kelantan 16150 ,","institution_ids":["https://openalex.org/I139322472","https://openalex.org/I4210089400"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5053103359","display_name":"Khairul Nazli Ramali","orcid":"https://orcid.org/0000-0002-1013-3363","observed_orcids":["https://orcid.org/0000-0002-1013-3363"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Khairul Nazli Ramali","raw_affiliation_strings":["Klinik Kesihatan Wakaf Bharu , Jalan Puteri Saadong, Wakaf Bharu, Kelantan 16250 ,"],"raw_orcid":"https://orcid.org/0000-0002-1013-3363","affiliations":[{"raw_affiliation_string":"Klinik Kesihatan Wakaf Bharu , Jalan Puteri Saadong, Wakaf Bharu, Kelantan 16250 ,","institution_ids":[]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5089018387"],"corresponding_institution_ids":["https://openalex.org/I139322472","https://openalex.org/I4210089400"],"apc_list":{"value":1103,"currency":"USD","value_usd":1103},"apc_paid":{"value":1103,"currency":"USD","value_usd":1103},"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.71242086,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"2026","issue":"10","first_page":"omag196","last_page":"omag196"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":0.9922000169754028,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":0.9922000169754028,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T12237","display_name":"Congenital gastrointestinal and neural anomalies","score":0.0010999999940395355,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.0008999999845400453,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/congenital-insensitivity-to-pain-with-anhidrosis","display_name":"congenital insensitivity to pain with anhidrosis","score":0.9980000257492065},{"id":"https://openalex.org/keywords/hypotonia","display_name":"hypotonia","score":0.703000009059906},{"id":"https://openalex.org/keywords/growth-failure","display_name":"growth failure","score":0.9869999885559082},{"id":"https://openalex.org/keywords/delayed-motor-development","display_name":"delayed motor development","score":0.8009999990463257},{"id":"https://openalex.org/keywords/self-harm","display_name":"self-harm","score":0.9580000042915344},{"id":"https://openalex.org/keywords/anhidrosis","display_name":"anhidrosis","score":0.7860000133514404}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.909500002861023},{"id":"https://openalex.org/C2779546488","wikidata":"https://www.wikidata.org/wiki/Q1753547","display_name":"Hypotonia","level":2,"score":0.7125999927520752},{"id":"https://openalex.org/C92020748","wikidata":"https://www.wikidata.org/wiki/Q420457","display_name":"Neurotrophin","level":3,"score":0.505299985408783},{"id":"https://openalex.org/C2911046722","wikidata":"https://www.wikidata.org/wiki/Q1753547","display_name":"Muscle Hypotonia","level":3,"score":0.46209999918937683},{"id":"https://openalex.org/C2780673598","wikidata":"https://www.wikidata.org/wiki/Q285223","display_name":"Genetic testing","level":2,"score":0.43630000948905945},{"id":"https://openalex.org/C2779203496","wikidata":"https://www.wikidata.org/wiki/Q545408","display_name":"Anhidrosis","level":2,"score":0.4341999888420105},{"id":"https://openalex.org/C42362537","wikidata":"https://www.wikidata.org/wiki/Q87099740","display_name":"Tyrosine kinase","level":3,"score":0.40689998865127563},{"id":"https://openalex.org/C160539049","wikidata":"https://www.wikidata.org/wiki/Q3064187","display_name":"Neurotrophic factors","level":3,"score":0.4068000018596649},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.396699994802475},{"id":"https://openalex.org/C2777107010","wikidata":"https://www.wikidata.org/wiki/Q2798704","display_name":"Neuropathic pain","level":2,"score":0.3790000081062317},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.3668000102043152},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.362199991941452},{"id":"https://openalex.org/C101544691","wikidata":"https://www.wikidata.org/wiki/Q420511","display_name":"Receptor tyrosine kinase","level":3,"score":0.36169999837875366},{"id":"https://openalex.org/C42219234","wikidata":"https://www.wikidata.org/wiki/Q131130","display_name":"Anesthesia","level":1,"score":0.3472000062465668},{"id":"https://openalex.org/C2778423431","wikidata":"https://www.wikidata.org/wiki/Q417782","display_name":"Nerve growth factor","level":3,"score":0.34689998626708984},{"id":"https://openalex.org/C2781179581","wikidata":"https://www.wikidata.org/wiki/Q2857712","display_name":"Family history","level":2,"score":0.3181000053882599},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.3086000084877014},{"id":"https://openalex.org/C2777390192","wikidata":"https://www.wikidata.org/wiki/Q1036696","display_name":"Hypothermia","level":2,"score":0.3012999892234802},{"id":"https://openalex.org/C2775892965","wikidata":"https://www.wikidata.org/wiki/Q1502312","display_name":"Polyneuropathy","level":2,"score":0.29019999504089355},{"id":"https://openalex.org/C2781111119","wikidata":"https://www.wikidata.org/wiki/Q708165","display_name":"Arthrogryposis","level":2,"score":0.28929999470710754},{"id":"https://openalex.org/C555293320","wikidata":"https://www.wikidata.org/wiki/Q12206","display_name":"Diabetes mellitus","level":2,"score":0.28780001401901245},{"id":"https://openalex.org/C67636389","wikidata":"https://www.wikidata.org/wiki/Q784237","display_name":"Genetic predisposition","level":3,"score":0.2865999937057495},{"id":"https://openalex.org/C2780801072","wikidata":"https://www.wikidata.org/wiki/Q837512","display_name":"Differential diagnosis","level":2,"score":0.2768999934196472},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.27480000257492065},{"id":"https://openalex.org/C2781118164","wikidata":"https://www.wikidata.org/wiki/Q1088113","display_name":"Chronic pain","level":2,"score":0.25540000200271606},{"id":"https://openalex.org/C2778908642","wikidata":"https://www.wikidata.org/wiki/Q200779","display_name":"Genetic disorder","level":3,"score":0.2522999942302704},{"id":"https://openalex.org/C2994188736","wikidata":"https://www.wikidata.org/wiki/Q194277","display_name":"Nerve conduction","level":2,"score":0.2506999969482422}],"mesh":[],"locations_count":3,"locations":[{"id":"doi:10.1093/omcr/omag196","doi":"https://doi.org/10.1093/omcr/omag196","is_oa":true,"landing_page_url":"https://doi.org/10.1093/omcr/omag196","pdf_url":"https://academic.oup.com/omcr/article-pdf/2026/10/omag196/72508770/omag196.pdf","source":{"id":"https://openalex.org/S2734620550","display_name":"Oxford Medical Case Reports","issn_l":"2053-8855","issn":["2053-8855"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-d","jufo-1","norway-1","poland-40","russia-white-list-3","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Oxford Medical Case Reports","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:13695949","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13695949/","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13695949/pdf/omag196.pdf","source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Oxf Med Case Reports","raw_type":"Text"},{"id":"pmid:42928800","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/42928800","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Oxford medical case reports","raw_type":"Case Reports"}],"best_oa_location":{"id":"doi:10.1093/omcr/omag196","doi":"https://doi.org/10.1093/omcr/omag196","is_oa":true,"landing_page_url":"https://doi.org/10.1093/omcr/omag196","pdf_url":"https://academic.oup.com/omcr/article-pdf/2026/10/omag196/72508770/omag196.pdf","source":{"id":"https://openalex.org/S2734620550","display_name":"Oxford Medical Case Reports","issn_l":"2053-8855","issn":["2053-8855"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-d","jufo-1","norway-1","poland-40","russia-white-list-3","vabb-shw"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Oxford Medical Case Reports","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9763000011444092,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W7223577828.pdf","grobid_xml":"https://content.openalex.org/works/W7223577828.grobid-xml"},"referenced_works_count":7,"referenced_works":["https://openalex.org/W1485268881","https://openalex.org/W1527293105","https://openalex.org/W2108114952","https://openalex.org/W2119510619","https://openalex.org/W2119887502","https://openalex.org/W2149290144","https://openalex.org/W2414841139"],"related_works":["https://openalex.org/W3128246218","https://openalex.org/W2007072335","https://openalex.org/W3041455366","https://openalex.org/W3145450430","https://openalex.org/W4412734173","https://openalex.org/W1528912602","https://openalex.org/W2114219519","https://openalex.org/W2358002592","https://openalex.org/W1423147256","https://openalex.org/W204850603"],"abstract_inverted_index":{"Congenital":[0],"insensitivity":[1],"to":[2,29,35,89,137],"pain":[3,25],"with":[4,45],"anhidrosis":[5],"is":[6,33],"a":[7,41,103],"rare":[8],"genetic":[9,99,135],"disorder":[10],"caused":[11],"by":[12,23],"mutations":[13],"in":[14,106],"the":[15,71,107,126],"neurotrophic":[16,108],"receptor":[17,109],"tyrosine":[18,110],"kinase":[19,111],"1":[20,112],"gene,":[21],"characterized":[22],"absent":[24],"perception":[26],"and":[27,49,55,62,91,133],"inability":[28],"sweat.":[30],"Early":[31],"recognition":[32],"essential":[34],"prevent":[36],"severe":[37],"complications.":[38],"We":[39],"report":[40],"seven-month-old":[42],"boy":[43],"presenting":[44],"poor":[46],"growth,":[47],"hypotonia,":[48],"delayed":[50],"motor":[51],"development.":[52],"Initial":[53],"metabolic":[54],"neuromuscular":[56],"evaluations,":[57],"including":[58,83],"nerve":[59],"conduction":[60],"studies":[61],"brain":[63],"imaging,":[64],"were":[65],"normal.":[66],"His":[67],"growth":[68],"remained":[69],"at":[70],"minus":[72],"three":[73],"standard":[74],"deviation":[75],"centile.":[76],"By":[77],"twelve":[78],"months,":[79],"additional":[80],"features":[81,120],"emerged,":[82],"self-injurious":[84],"behavior,":[85],"lack":[86],"of":[87,128],"response":[88],"injury,":[90],"reduced":[92],"sweating.":[93],"A":[94],"positive":[95],"family":[96,131],"history":[97],"prompted":[98],"testing,":[100],"which":[101],"confirmed":[102],"pathogenic":[104],"variant":[105],"gene.":[113],"This":[114],"case":[115],"highlights":[116],"that":[117],"early":[118,134],"nonspecific":[119],"may":[121],"precede":[122],"classical":[123],"manifestations,":[124],"emphasizing":[125],"importance":[127],"clinical":[129],"vigilance,":[130],"history,":[132],"testing":[136],"enable":[138],"timely":[139],"multidisciplinary":[140],"management.":[141]},"counts_by_year":[],"updated_date":"2026-11-08T12:12:28.789561","created_date":"2026-10-26T00:00:00"}