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Malignant infantile osteopetrosis presenting with neonatal hypocalcaemia
M Srinivasan1, M Abinun, A J Cant
1Bone Marrow Transplant Unit, Bristol Royal Hospital for Sick Children, Bristol, UK.
Insights
Malignant infantile osteopetrosis is an underrecognized cause of neonatal hypocalcemia. Early diagnosis is crucial for effective treatment and preventing vision loss through bone marrow transplantation.
Area of Science:
- Pediatrics
- Genetics
- Neonatology
Background:
- Malignant infantile osteopetrosis (MIO) is a rare genetic disorder.
- MIO affects bone resorption, leading to increased bone density.
- Delayed diagnosis can result in severe complications.
Purpose of the Study:
- To review the presentation characteristics of MIO in infants.
- To highlight the association between MIO and neonatal hypocalcemia.
- To emphasize the importance of early diagnosis for treatment outcomes.
Main Methods:
- Retrospective review of 14 children with MIO from 12 families.
- Analysis of clinical presentation, focusing on hypocalcemia symptoms.
- Data collected from two major bone marrow transplantation referral centers.
Main Results:
- Six out of 12 families presented with hypocalcemia symptoms.
- Neonatal convulsions were observed in six cases (serum calcium < 1.5 mmol/l).
- Hypocalcemia symptoms typically developed within the first 14 days of life.
Conclusions:
- MIO is an underrecognized cause of neonatal hypocalcemia.
- Diagnostic confusion and delays are common.
- Early identification is critical for timely intervention, potentially preserving sight via hematopoietic stem cell transplantation.
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.