title: Malignant infantile osteopetrosis.
abstract: Osteopetrosis, a rare congenital genetic disease characterized by increased bone density due to impaired bone resorption by osteoclasts. It is classified into three forms: Infantile malignant autosomal recessive (AR) osteopetrosis, intermediate (AR) osteopetrosis and autosomal dominant (AD) osteopetrosis. Incidence of infantile malignant AR is 1/2,00,000 and if untreated has a fatal outcome. The condition is commonly diagnosed in infancy with symptoms of significant hematologic abnormalities with bone marrow failure, hepatosplenomegaly, macrocephaly with frontal bossing and bone fractures. Because of rarity of this type of malignant infantile form of osteopretrosis, we like to report this case of malignant infantile osteopetrosis who presented with bronchopneumonia, anemia with melaena at 2 months 15 days of age.
authors.affiliation: Department of Pediatrics, JSS Medical College, JSS University, Mysore, Karnataka, India.
authors.forename: Kalenahalli Jagadish
authors.initials: KJ
authors.lastname: Kumar
authors.forename: Kasi
authors.initials: K
authors.lastname: Bandaru
authors.forename: Sathya Narayana
authors.initials: SN
authors.lastname: Prashanth
authors.forename: Sangaraju
authors.initials: S
authors.lastname: Mamatha
keywords: Fatal; genetic; hepatosplenomegaly; infancy; malignant infantile osteopetrosis
references.citation: Am J Hematol. 2009 Aug;84(8):473-9
references.pmid: 19507210
references.citation: Indian Pediatr. 1999 Jan;36(1):69-74
references.pmid: 10709125
references.citation: J Med Genet. 2006 Apr;43(4):315-25
references.pmid: 16118345
references.citation: Arch Dis Child Fetal Neonatal Ed. 2000 Jul;83(1):F21-3
references.pmid: 10873166
references.citation: Indian J Med Res. 2010 Apr;131:508-14
references.pmid: 20424301
references.citation: Pediatrics. 1994 Feb;93(2):247-53
references.pmid: 8121736