Malignant infantile osteopetrosis presenting with neonatal hypocalcaemia
Madhusudan Srinivasana, Mario Abinunb, Andrew J Cantb, Kelvin Tanc, Anthony Oakhilla, Colin G Stewarda
a Bone Marrow
Transplant Unit, Bristol Royal Hospital for Sick Children, Bristol, UK, b Children's Bone Marrow Transplantation Unit,
Newcastle General Hospital, Newcastle upon Tyne, UK, c Department of Child Health,
University Hospital of Wales, Cardiff, Wales, UK
Correspondence to: Dr Steward, BMT Unit, Bristol Royal Hospital for Sick Children, St Michael's Hill, Bristol BS2 8BJ, UK email: colin.steward{at}nildram.co.uk
Accepted 9 November
1999
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.
Keywords: neonatal; hypocalcaemia; malignant infantile osteopetrosis; bone; osteosclerosis; visual impairment
© 2000 by Archives of Disease in Childhood
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