title: Clinical profile of osteopetrosis in children in Karachi.
abstract: OBJECTIVE
  To describe the presentations, complications and to look at the subtypes of children with osteopetrosis.
  
  
  METHODS
  A case series.
  
  
  METHODS
  This study was conducted at the National Institute of Child Health (NICH) from July 2002 to December 2003.
  
  
  METHODS
  All children presenting as outpatients or inpatients with anemia, thrombocytopenia, and hepatosplenomegaly were evaluated. Those suspected of the disorder (n=126) were screened by X-rays of long bones.
  
  
  RESULTS
  Eighteen children including 10 girls and 8 boys in 16 families were diagnosed as having osteopetrosis over a period of 18 months. Fifteen had isolated autosomal recessive osteopetrosis. The mean age at diagnosis was 33 months. Parental consanguinity was high (83.3%). Anemia, hepatosplenomegaly, failure to thrive, recurrent infections and neurological manifestations were common. A high mortality (33.3%) owing to infection was noted.
  
  
  CONCLUSIONS
  Osteopetrosis should be considered in children presenting with unexplained anemia and hepatosplenomegaly. Once diagnosed, these children should then be monitored for the complications that occur with high frequency in the disorder. Early diagnosis and treatment of the disorder improves the outcome.
authors: Department of Paediatric Medicine, National Institute of Child Health, Karachi, Pakistan.
authors: Syeda Shireen
authors: SS
authors: Gul
authors: Syed Jamal
authors: SJ
authors: Raza
authors: Muhammed
authors: M
authors: Alam
authors: Zeenat
authors: Z
authors: Issani
mesh_terms: D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010022:Osteopetrosis / Q000150:complications / Q000175:diagnosis*