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Malignant infantile osteopetrosis presenting with neonatal hypocalcaemia
  1. Madhusudan Srinivasana,
  2. Mario Abinunb,
  3. Andrew J Cantb,
  4. Kelvin Tanc,
  5. Anthony Oakhilla,
  6. Colin G Stewarda
  1. aBone Marrow Transplant Unit, Bristol Royal Hospital for Sick Children, Bristol, UK, bChildren's Bone Marrow Transplantation Unit, Newcastle General Hospital, Newcastle upon Tyne, UK, cDepartment of Child Health, University Hospital of Wales, Cardiff, Wales, UK
  1. Dr Steward, BMT Unit, Bristol Royal Hospital for Sick Children, St Michael's Hill, Bristol BS2 8BJ, UK email: colin.steward{at}


Presentation characteristics were reviewed in 14 children from 12 families with malignant infantile osteopetrosis seen at two large referral centres for bone marrow transplantation. Children from six of these families presented initially with symptoms of hypocalcaemia. These comprised early or late neonatal convulsions in six cases (corrected serum calcium < 1.5 mmol/l), and vomiting and irritability (serum calcium 1.68 mmol/l) in another. One other related child had severe and persistent jittering episodes almost certainly attributable to hypocalcaemia. In seven of eight cases, these symptoms developed during the first 14 days of life. Although occasionally reported previously, malignant infantile osteopetrosis remains essentially unrecognised as a cause of neonatal hypocalcaemia, often resulting in diagnostic confusion and delay. This is important in the context of curative haemopoietic stem cell transplantation where preservation of sight may depend on early intervention.

  • neonatal
  • hypocalcaemia
  • malignant infantile osteopetrosis
  • bone
  • osteosclerosis
  • visual impairment

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