{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,3]],"date-time":"2025-10-03T17:55:30Z","timestamp":1759514130960,"version":"3.40.5"},"reference-count":15,"publisher":"American Academy of Pediatrics (AAP)","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2014,5,1]]},"abstract":"<jats:p>We present a case study of a 10-year-old child with severe burns that were misinterpreted as inflicted burns. Because of multiple injuries since early life, the family was under suspicion of child abuse and therefore under supervision of the Child Care Board for 2 years before the boy was burned. Because the boy incurred the burns without feeling pain, we conducted a thorough medical examination and laboratory testing, evaluated detection and pain thresholds, and used MRI to study brain morphology and brain activation patterns during pain between this patient and 3 healthy age- and gender-matched controls. We found elevated detection and pain thresholds and lower brain activation during pain in the patient compared with the healthy controls and reference values. The patient received the diagnosis of hereditary sensory and autonomic neuropathy type IV on the basis of clinical findings and the laboratory testing, complemented with the altered pain and detection thresholds and MRI findings. Hereditary sensory and autonomic neuropathy IV is a very rare congenital pain insensitivity syndrome characterized by the absence of pain and temperature sensation combined with oral mutilation due to unawareness, fractures, and anhidrosis caused by abnormalities in the peripheral nerves. Health care workers should be aware of the potential presence of this disease to prevent false accusations of child abuse.<\/jats:p>","DOI":"10.1542\/peds.2013-2015","type":"journal-article","created":{"date-parts":[[2014,4,15]],"date-time":"2014-04-15T00:27:19Z","timestamp":1397521639000},"page":"e1381-e1387","source":"Crossref","is-referenced-by-count":25,"title":["Pain Insensitivity Syndrome Misinterpreted as Inflicted Burns"],"prefix":"10.1542","volume":"133","author":[{"given":"Gerbrich E.","family":"van den Bosch","sequence":"first","affiliation":[{"name":"Intensive Care and"},{"name":"Departments of Pediatric Surgery,"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin G. A.","family":"Baartmans","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paul","family":"Vos","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Medical Center Haaglanden, Den Haag, Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan","family":"Dokter","sequence":"additional","affiliation":[{"name":"Burn Center, Maasstad Hospital, Rotterdam, Netherlands; and"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tonya","family":"White","sequence":"additional","affiliation":[{"name":"Child and Adolescent Psychiatry\/Psychology, and"},{"name":"Radiology, Erasmus MC\u2013Sophia Children\u2019s Hospital, Rotterdam, Netherlands;"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dick","family":"Tibboel","sequence":"additional","affiliation":[{"name":"Intensive Care and"},{"name":"Departments of Pediatric Surgery,"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"417","published-online":{"date-parts":[[2014,5,1]]},"reference":[{"issue":"3","key":"2021120903180700200_B1","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1016\/S0304-3959(02)00482-7","article-title":"Congenital insensitivity to pain: an update.","volume":"101","author":"Nagasako","year":"2003","journal-title":"Pain"},{"key":"2021120903180700200_B2","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1186\/1750-1172-2-39","article-title":"Hereditary sensory and autonomic neuropathies: types II, III, and IV.","volume":"2","author":"Axelrod","year":"2007","journal-title":"Orphanet J Rare Dis"},{"issue":"4","key":"2021120903180700200_B3","doi-asserted-by":"crossref","first-page":"888","DOI":"10.1111\/j.1365-2133.2011.10706.x","article-title":"Congenital insensitivity to pain with anhidrosis: a case with preserved itch sensation to histamine and partial pain sensation.","volume":"166","author":"Tanaka","year":"2012","journal-title":"Br J Dermatol"},{"key":"2021120903180700200_B4","unstructured":"Axelrod FB, Gold-von Simson G, Oddoux C. Hereditary sensory and autonomic neuropathy IV. GeneReviews. National Center for Biotechnology Information; 2008 [updated November 24, 2009]. Available at: www.ncbi.nlm.nih.gov\/books\/NBK1769\/. Accessed December 4, 2013"},{"issue":"1","key":"2021120903180700200_B5","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1016\/0887-8994(94)90091-4","article-title":"Congenital insensitivity to pain with anhidrosis (hereditary sensory and autonomic neuropathy type IV)","volume":"11","author":"Rosemberg","year":"1994","journal-title":"Pediatr Neurol"},{"issue":"3","key":"2021120903180700200_B6","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1001\/archneur.1963.00460030083008","article-title":"Congenital insensitivity to pain with anhydrosis: a unique syndrome in two male siblings.","volume":"8","author":"Swanson","year":"1963","journal-title":"Arch Neurol"},{"issue":"4","key":"2021120903180700200_B7","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1038\/ng0896-485","article-title":"Mutations in the TRKA\/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis.","volume":"13","author":"Indo","year":"1996","journal-title":"Nat Genet"},{"issue":"4","key":"2021120903180700200_B8","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1002\/humu.1192","article-title":"Congenital insensitivity to pain with anhidrosis (CIPA): novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency.","volume":"18","author":"Indo","year":"2001","journal-title":"Hum Mutat"},{"issue":"1","key":"2021120903180700200_B9","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1016\/j.pain.2010.01.011","article-title":"Reference values for quantitative sensory testing in children and adolescents: developmental and gender differences of somatosensory perception.","volume":"149","author":"Blankenburg","year":"2010","journal-title":"Pain"},{"issue":"5","key":"2021120903180700200_B10","doi-asserted-by":"crossref","first-page":"274","DOI":"10.1055\/s-2004-821254","article-title":"The evaluation of autonomic nervous function in a patient with hereditary sensory and autonomic neuropathy type IV with novel mutations of the TRKA gene.","volume":"35","author":"Ohto","year":"2004","journal-title":"Neuropediatrics"},{"author":"Oddoux","key":"2021120903180700200_B11","article-title":"Genetic heterogeneity in hereditary and autonomic sensory neuropathy type 4 (HSAN4)."},{"issue":"3","key":"2021120903180700200_B12","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1093\/jpepsy\/jss128","article-title":"Case study: videogame distraction reduces behavioral distress in a preschool-aged child undergoing repeated burn dressing changes: a single-subject design.","volume":"38","author":"Sil","year":"2013","journal-title":"J Pediatr Psychol"},{"issue":"9","key":"2021120903180700200_B13","doi-asserted-by":"crossref","first-page":"1307","DOI":"10.1002\/j.1532-2149.2013.00311.x","article-title":"Standard and individually determined thermal pain stimuli induce similar brain activations.","volume":"17","author":"van den Bosch","year":"2013","journal-title":"Eur J Pain"},{"issue":"5","key":"2021120903180700200_B14","doi-asserted-by":"crossref","first-page":"842","DOI":"10.1542\/peds.93.5.842","article-title":"Hereditary sensory neuropathy manifesting as possible child abuse.","volume":"93","author":"Makari","year":"1994","journal-title":"Pediatrics"},{"issue":"3","key":"2021120903180700200_B15","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1097\/00006565-199706000-00021","article-title":"Osteogenesis imperfecta (OI), may be mistaken for child abuse.","volume":"13","author":"Kruse","year":"1997","journal-title":"Pediatr Emerg Care"}],"container-title":["Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/133\/5\/e1381\/1059322\/peds_2013-2015.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/133\/5\/e1381\/1059322\/peds_2013-2015.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,1]],"date-time":"2022-04-01T17:04:38Z","timestamp":1648832678000},"score":1,"resource":{"primary":{"URL":"https:\/\/publications.aap.org\/pediatrics\/article\/133\/5\/e1381\/32703\/Pain-Insensitivity-Syndrome-Misinterpreted-as"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,5,1]]},"references-count":15,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2014,5,1]]},"published-print":{"date-parts":[[2014,5,1]]}},"URL":"https:\/\/doi.org\/10.1542\/peds.2013-2015","relation":{},"ISSN":["0031-4005","1098-4275"],"issn-type":[{"type":"print","value":"0031-4005"},{"type":"electronic","value":"1098-4275"}],"subject":[],"published":{"date-parts":[[2014,5,1]]}}}