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Clinical profile of osteopetrosis in children in Karachi

Syeda Shireen Gul1, Syed Jamal Raza, Muhammed Alam

  • 1Department of Paediatric Medicine, National Institute of Child Health, Karachi, Pakistan.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
|March 22, 2007
PubMed

Insights

Osteopetrosis in children presents with anemia and hepatosplenomegaly, often leading to severe complications and high mortality. Early diagnosis and prompt treatment are crucial for improving outcomes in affected children.

Area of Science:

  • Pediatric Hematology
  • Medical Genetics
  • Skeletal Dysplasias

Background:

  • Osteopetrosis is a rare genetic disorder characterized by impaired osteoclast function, leading to increased bone density.
  • It presents with a range of clinical manifestations, including anemia, hepatosplenomegaly, and increased susceptibility to infections.

Purpose of the Study:

  • To detail the clinical presentations, common complications, and subtypes of osteopetrosis in pediatric patients.
  • To emphasize the importance of early recognition and management of this rare bone disorder.

Main Methods:

  • A case series design was employed at the National Institute of Child Health (NICH).
  • Evaluated 126 children with symptoms suggestive of osteopetrosis, including anemia, thrombocytopenia, and hepatosplenomegaly.
  • Utilized X-rays of long bones for screening and diagnosis.

Main Results:

  • Diagnosed 18 children (10 girls, 8 boys) with osteopetrosis over 18 months; 15 had autosomal recessive osteopetrosis.
  • Mean age at diagnosis was 33 months, with high parental consanguinity (83.3%).
  • Common findings included anemia, hepatosplenomegaly, failure to thrive, infections, and neurological issues, with a 33.3% mortality rate due to infection.

Conclusions:

  • Osteopetrosis should be suspected in children with unexplained anemia and hepatosplenomegaly.
  • Close monitoring for complications is essential after diagnosis.
  • Early diagnosis and treatment significantly improve patient outcomes.
Abstract

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