{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,17]],"date-time":"2026-05-17T04:15:28Z","timestamp":1778991328443,"version":"3.51.4"},"reference-count":33,"publisher":"BMJ","issue":"5","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2021,4,29]]},"published-print":{"date-parts":[[2021,5]]},"abstract":"<jats:p>Osteopetrosis describes a heterogeneous group of diseases characterised by increased bone density due to impaired osteoclast. The malignant infantile autosomal recessive (MIOP) form caused by mutations in <jats:italic>OSTM1<\/jats:italic> is the most severe form of osteopetrosis. Children with this phenotype exhibit multisystemic complications, of which the neuropathic manifestations are the most severe. Infants with MIOP may present with pain and irritability that are likely to become continuous and debilitating as the disease progresses. There is limited understanding of the aetiology and management of pain in MIOP. Here, we describe a 2\u2009month-old infant with <jats:italic>OSTM1<\/jats:italic> mutation-related MIOP presenting with severe irritability and pain. This case provides the opportunity to discuss the cause and management of these distressing symptoms. We also review similar cases and the possible underlying mechanisms of pain and irritability to help provide a conceptual framework for the management of these symptoms in infants with <jats:italic>OSTM1<\/jats:italic> MIOP.<\/jats:p>","DOI":"10.1136\/bcr-2021-242498","type":"journal-article","created":{"date-parts":[[2021,5,19]],"date-time":"2021-05-19T13:50:33Z","timestamp":1621432233000},"page":"e242498","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":4,"title":["Managing challenging pain and irritability in <i>OSTM1<\/i> mutation-related infantile malignant osteopetrosis"],"prefix":"10.1136","volume":"14","author":[{"given":"Qutaibah","family":"Alotaibi","sequence":"first","affiliation":[{"name":"Pediatrics, Al Adan Hospital, Al Ahmadi Health District, Kuwait"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manjiri","family":"Dighe","sequence":"additional","affiliation":[{"name":"Pediatrics, Al Adan Hospital, Al Ahmadi Health District, Kuwait"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2021,5,19]]},"reference":[{"key":"2025082708045930000_14.5.e242498.1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-4-1"},{"key":"2025082708045930000_14.5.e242498.2","doi-asserted-by":"publisher","DOI":"10.1038\/nrendo.2013.137"},{"key":"2025082708045930000_14.5.e242498.3","doi-asserted-by":"publisher","DOI":"10.1007\/s00223-005-0027-6"},{"key":"2025082708045930000_14.5.e242498.4","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10828"},{"key":"2025082708045930000_14.5.e242498.5","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.21447"},{"key":"2025082708045930000_14.5.e242498.6","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2013.04.007"},{"key":"2025082708045930000_14.5.e242498.7","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M113.537233"},{"key":"2025082708045930000_14.5.e242498.8","first-page":"e9234","article-title":"A rare case of malignant infantile osteopetrosis presenting as frontal lobe hemorrhage","volume":"12","author":"Ali","year":"2020","journal-title":"Cureus"},{"key":"2025082708045930000_14.5.e242498.9","first-page":"e6725","article-title":"Malignant infantile osteopetrosis: a case report","volume":"12","author":"Bubshait","year":"2020","journal-title":"Cureus"},{"key":"2025082708045930000_14.5.e242498.10","doi-asserted-by":"crossref","first-page":"63","DOI":"10.11604\/pamj.2014.17.63.3759","article-title":"Malignant infantile osteopetrosis: case report with review of literature","volume":"17","author":"Essabar","year":"2014","journal-title":"Pan Afr Med J"},{"key":"2025082708045930000_14.5.e242498.11","first-page":"350","article-title":"Malignant infantile osteopetrosis","volume":"29","author":"Gillani","year":"2017","journal-title":"J Ayub Med Coll"},{"key":"2025082708045930000_14.5.e242498.12","doi-asserted-by":"crossref","unstructured":"Rao P T . 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