Dr(Col) Om Prakash Singh, Dr Anil Kumar Saroj, Prof R Narain


Osteopetrosis is a very uncommon genetic disorder with characteristic features of increased bone density due to impaired bone resorption by osteoclasts. This leads to increased bone density. 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 hematological abnormalities and bone marrow failure, hepatosplenomegaly, macrocephaly with frontal bossing and bone fractures. As   malignant infantile form of Osteopetrosis is very rare, we are reporting  a case of Malignant Infantile Osteopetrosis who presented to us with convulsions and a bulging fontanel , anemia and  melaena at eight  months  of age.


Osteopetrosis, bone resorption, autosomal dominant (AD)

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