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Managing challenging pain and irritability in OSTM1 mutation-related infantile malignant osteopetrosis
  1. Qutaibah Alotaibi and
  2. Manjiri Dighe
  1. Pediatrics, Al Adan Hospital, Al Ahmadi Health District, Kuwait
  1. Correspondence to Dr Qutaibah Alotaibi; qalotaibi{at}


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 OSTM1 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 month-old infant with OSTM1 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 OSTM1 MIOP.

  • pain (palliative care)
  • genetics
  • medical management
  • paediatrics
  • musculoskeletal syndromes

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  • Contributors QA and MD contributed intellectually to conceptualisation, data collection from medical records and interpretation of clinical information relevant to this case report. Both authors contributed to the collection, review, critical analysis and discussion of the case in relation to the available scientific knowledge of the medical condition, including animal model studies. QA was primarily responsible for writing and final revision of the case report, and MD reviewed and contributed to the revision of the draft of the case report. The final draft was jointly reviewed and agreed upon by both authors. Both authors accept accountability for all aspects of the case report including complete accuracy and integrity of the work.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.