title: Malignant infantile osteopetrosis presenting with neonatal hypocalcaemia.
abstract: 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.
authors.affiliation: Bone Marrow Transplant Unit, Bristol Royal Hospital for Sick Children, Bristol, UK.
authors.forename: M
authors.initials: M
authors.lastname: Srinivasan
authors.forename: M
authors.initials: M
authors.lastname: Abinun
authors.forename: A J
authors.initials: AJ
authors.lastname: Cant
authors.forename: K
authors.initials: K
authors.lastname: Tan
authors.forename: A
authors.initials: A
authors.lastname: Oakhill
authors.forename: C G
authors.initials: CG
authors.lastname: Steward
mesh_terms: D015415:Biomarkers / Q000097:blood; D016026:Bone Marrow Transplantation; D006801:Humans; D006996:Hypocalcemia / Q000209:etiology*; D007231:Infant, Newborn; D010022:Osteopetrosis / Q000150:complications* / Q000235:genetics / Q000628:therapy; D014786:Vision Disorders / Q000209:etiology
chemical_list: D015415:Biomarkers