RT Journal Article
SR Electronic
T1 Malignant infantile osteopetrosis presenting with neonatal hypocalcaemia
JF Archives of Disease in Childhood - Fetal and Neonatal Edition
JO Arch Dis Child Fetal Neonatal Ed
FD BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health
SP F21
OP F23
DO 10.1136/fn.83.1.F21
VO 83
IS 1
A1 Srinivasan, Madhusudan
A1 Abinun, Mario
A1 Cant, Andrew J
A1 Tan, Kelvin
A1 Oakhill, Anthony
A1 Steward, Colin G
YR 2000
UL http://fn.bmj.com/content/83/1/F21.abstract
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.