A novel treatment strategy with hyperbaric oxygen of chronic osteomyelitis and pseudoarthrosis in a child with congenital hereditary sensory and autonomic neuropathy type 4 congenital insensitivity to pain with anhidrosis syndrome: a case report
Abstract Background Congenital insensitivity to pain with anhidrosis is a rare but devastating hereditary disease. Congenital insensitivity to pain with anhidrosis is caused by a mutation in the neurotrophic receptor tyrosine kinase 1 gene (NRTK1). The condition is characterized by multiple injuries...
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| Language: | English |
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BMC
2025-01-01
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| Series: | Journal of Medical Case Reports |
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| Online Access: | https://doi.org/10.1186/s13256-024-05022-z |
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| author | Anders Kjellberg Rebecca Gustafsson Pavel Antonsson Henrik Hedelin |
| author_facet | Anders Kjellberg Rebecca Gustafsson Pavel Antonsson Henrik Hedelin |
| author_sort | Anders Kjellberg |
| collection | DOAJ |
| description | Abstract Background Congenital insensitivity to pain with anhidrosis is a rare but devastating hereditary disease. Congenital insensitivity to pain with anhidrosis is caused by a mutation in the neurotrophic receptor tyrosine kinase 1 gene (NRTK1). The condition is characterized by multiple injuries, recurrent infections, and mental retardation. Case presentation A 7-year-old Kurdish female patient, with a known case of congenital insensitivity to pain with anhidrosis, presented with a left tibial fracture, complicated by incorrect healing, osteomyelitis, and pseudoarthrosis spanning over a number of years. The osteomyelitis and pseudoarthrosis eventually healed after treatment with a combination of a long course of antibiotics, CERAMENT with gentamicin, and 40 sessions of hyperbaric oxygen treatment at 2.4 bar, 113 minutes with two air breaks. This is the first reported case of using hyperbaric oxygen treatment in children with congenital insensitivity to pain with anhidrosis. We discuss potential mechanistic explanations of the association between healing and hyperbaric oxygen treatment. Conclusion Hyperbaric oxygen treatment may be considered in other cases of complicated infections or treatment-resistant pseudoarthrosis in patients with this rare disease. |
| format | Article |
| id | doaj-art-d4210731a6ff4433977b63a8ddca7dff |
| institution | Kabale University |
| issn | 1752-1947 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | BMC |
| record_format | Article |
| series | Journal of Medical Case Reports |
| spelling | doaj-art-d4210731a6ff4433977b63a8ddca7dff2025-01-12T12:25:30ZengBMCJournal of Medical Case Reports1752-19472025-01-011911810.1186/s13256-024-05022-zA novel treatment strategy with hyperbaric oxygen of chronic osteomyelitis and pseudoarthrosis in a child with congenital hereditary sensory and autonomic neuropathy type 4 congenital insensitivity to pain with anhidrosis syndrome: a case reportAnders Kjellberg0Rebecca Gustafsson1Pavel Antonsson2Henrik Hedelin3Department of Physiology and Pharmacology, Karolinska InstitutetDepartment of Orthopaedics, Sahlgrenska University HospitalDepartment of Orthopaedics, Sahlgrenska University HospitalDepartment of Orthopaedics, Sahlgrenska University HospitalAbstract Background Congenital insensitivity to pain with anhidrosis is a rare but devastating hereditary disease. Congenital insensitivity to pain with anhidrosis is caused by a mutation in the neurotrophic receptor tyrosine kinase 1 gene (NRTK1). The condition is characterized by multiple injuries, recurrent infections, and mental retardation. Case presentation A 7-year-old Kurdish female patient, with a known case of congenital insensitivity to pain with anhidrosis, presented with a left tibial fracture, complicated by incorrect healing, osteomyelitis, and pseudoarthrosis spanning over a number of years. The osteomyelitis and pseudoarthrosis eventually healed after treatment with a combination of a long course of antibiotics, CERAMENT with gentamicin, and 40 sessions of hyperbaric oxygen treatment at 2.4 bar, 113 minutes with two air breaks. This is the first reported case of using hyperbaric oxygen treatment in children with congenital insensitivity to pain with anhidrosis. We discuss potential mechanistic explanations of the association between healing and hyperbaric oxygen treatment. Conclusion Hyperbaric oxygen treatment may be considered in other cases of complicated infections or treatment-resistant pseudoarthrosis in patients with this rare disease.https://doi.org/10.1186/s13256-024-05022-zCase reportCIPAHSAN IVHBOTHyperbaric oxygen therapyOrthopedics |
| spellingShingle | Anders Kjellberg Rebecca Gustafsson Pavel Antonsson Henrik Hedelin A novel treatment strategy with hyperbaric oxygen of chronic osteomyelitis and pseudoarthrosis in a child with congenital hereditary sensory and autonomic neuropathy type 4 congenital insensitivity to pain with anhidrosis syndrome: a case report Journal of Medical Case Reports Case report CIPA HSAN IV HBOT Hyperbaric oxygen therapy Orthopedics |
| title | A novel treatment strategy with hyperbaric oxygen of chronic osteomyelitis and pseudoarthrosis in a child with congenital hereditary sensory and autonomic neuropathy type 4 congenital insensitivity to pain with anhidrosis syndrome: a case report |
| title_full | A novel treatment strategy with hyperbaric oxygen of chronic osteomyelitis and pseudoarthrosis in a child with congenital hereditary sensory and autonomic neuropathy type 4 congenital insensitivity to pain with anhidrosis syndrome: a case report |
| title_fullStr | A novel treatment strategy with hyperbaric oxygen of chronic osteomyelitis and pseudoarthrosis in a child with congenital hereditary sensory and autonomic neuropathy type 4 congenital insensitivity to pain with anhidrosis syndrome: a case report |
| title_full_unstemmed | A novel treatment strategy with hyperbaric oxygen of chronic osteomyelitis and pseudoarthrosis in a child with congenital hereditary sensory and autonomic neuropathy type 4 congenital insensitivity to pain with anhidrosis syndrome: a case report |
| title_short | A novel treatment strategy with hyperbaric oxygen of chronic osteomyelitis and pseudoarthrosis in a child with congenital hereditary sensory and autonomic neuropathy type 4 congenital insensitivity to pain with anhidrosis syndrome: a case report |
| title_sort | novel treatment strategy with hyperbaric oxygen of chronic osteomyelitis and pseudoarthrosis in a child with congenital hereditary sensory and autonomic neuropathy type 4 congenital insensitivity to pain with anhidrosis syndrome a case report |
| topic | Case report CIPA HSAN IV HBOT Hyperbaric oxygen therapy Orthopedics |
| url | https://doi.org/10.1186/s13256-024-05022-z |
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