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Malignant infantile osteopetrosis presenting with neonatal hypocalcaemia

Lookup NU author(s): Dr Mario Abinun, Professor Andrew Cant


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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 littering 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.

Publication metadata

Author(s): Srinivasan M, Abinun M, Cant AJ, Tan K, Oakhill A, Steward CG

Publication type: Article

Publication status: Published

Journal: Archives of Disease in Childhood: Fetal & Neonatal

Year: 2000

Volume: 83

Issue: 1

Pages: F21-F23

ISSN (print): 1359-2998

Publisher: BMJ Publishing Group Ltd


DOI: 10.1136/fn.83.1.F21


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