PT  - JOURNAL ARTICLE
AU  - Madhusudan Srinivasan
AU  - Mario Abinun
AU  - Andrew J Cant
AU  - Kelvin Tan
AU  - Anthony Oakhill
AU  - Colin G Steward
TI  - Malignant infantile osteopetrosis presenting with neonatal hypocalcaemia
AID  - 10.1136/fn.83.1.F21
DP  - 2000 Jul 01
TA  - Archives of Disease in Childhood - Fetal and Neonatal Edition
PG  - F21--F23
VI  - 83
IP  - 1
4099  - http://fn.bmj.com/content/83/1/F21.short
4100  - http://fn.bmj.com/content/83/1/F21.full
SO  - Arch Dis Child Fetal Neonatal Ed2000 Jul 01; 83
AB  - 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.