osteopetrosis is a rare congenital genetic disorder characterized by increased bone density due to impaired bone resorption by osteoclasts . it is diagnosed incidentally or may exhibit mild symptoms in late childhood or adult life , but is compatible with long term survival . autosomal recessive ( ar ) malignant infantile osteopetrosis ( miop ) , online mendelian inheritance in men ( omim)(259700 ) , is uncommon however , it is a severe fatal disorder with an average incidence of 1:200,000 - 1:300,000 . this disease is caused by defector mutation in gene and 14 out of 20 miop patients had gene mutations . this condition is most commonly diagnosed soon after birth or within the1 year of life with severe symptoms of abnormal bone remodeling , including significant hematologic abnormalities with bone marrow failure and extramedullary hematopoiesis , resulting in hepatosplenomegaly , a characteristic macrocephaly with frontal bossing , exophthalmus , bonefractures , and failure to thrive . we present a case of miop who presented with bronchopneumonia , anemia with melaena at 2 months 15 days of age . a 2 months 15 days old hindu , female baby born to non - consanguineous couple presented with fever , cough , hurried respiration and melaena since 4 days . there was prominent frontal bossing , depressed nasal bridge and wide opened anterior fontenellae 4 cm  5 cm and posterior 0.5 cm  0.5 cm . she was febrile ( 100f ) , rr 60/min , pr 120/min and blood pressure of 90/64 mm of hg . she was pale , otherwise skin and mucous membrane were normal and her head circumference 38 cm ( > 10 centile ) , weight 4 kg ( < 5 centile ) , and length 48 cm ( < 5 centile ) . investigations revealed : haemoglobin 9 g / dl , tc 39 , 400/mm with differential count of n-32% , l-42% , m-0% , e-05% , b-0% , promyelocyte 06% , myelocyte 7% , metamyelocyte 05% , esr 25 mm in 1 hr and platelet count 66,000/mm . peripheral smear revealed erythrocytosis showing moderate degree of anisopoikilocytosis , majority of red blood cells are normocytic and normochromic . nucleated rbc 's seen ( 12/100wbc 's ) , along with good number of polychromoatophilic rbc 's . her rbc 's indices are : mch 24.6 pg , mcv-78.2 , mchc-31.5% , rdw-19.4 and reticulocyte count-6.5% . her serum calcium 8.0 mg / dl , phosphorus 2.9 mg / dl , alkalinephosphatase ( ap ) 3077 u / l , and lactate dehydrogenase ( ldh ) 1840u / l . quantitative buffy coat smear ( qbc ) for malarial parasite and hiv status x - ray showed increased density in all the bones ( bone in bone appearance and ) [ figures 1 and 2 ] . she was treated with antibiotics , blood transfusion , calcium , and vitamin d. x - ray showing increased density in all the bones ( bone in bone appearance ) x - ray showing increased density in all the bones ( bone in bone appearance ) the diagnosis of miop is based on typical clinical and hematological parameters and characteristic radiological changes of increased bone density . our child had classical characteristics of miop and increased bone density was found in all the bones . the age at the time of diagnosis was between 3 months and 18 months in a study by phadke et al . the mean age at the time of diagnosis was 3.9 months ( range 15 days to 9.5 months ) in a study by mazzolari et al . out of 8 children 7 were diagnosed after 6 months of age in a study from india . usually , miop presents with anemia , thrombocytopenia , hepatosplenomegaly , visual impairment due to optic atrophy , and deafness within a year of life . the major clinical features derived from bony overgrowth of the marrow space and compression of optic and auditory nerve . even phadke et al . observed optic atrophy as the common finding in their cases . however , the most common presenting symptoms were pallor and listlessness in anotherstudy however , our child presented with anemia and gross hepatosplenomegaly at 2 months 15 days but without vision defects . the risk of developing a visual defect in the 1 year of life is about 75% and surgical decompression of optic nerve may restore vision . the hematological manifestations in miop are due to obliteration of marrow cavity leading to leukoerythroblastic bonemarrow . cells of promyeloid series may be found due to ineffective marrow function , which was found in our case . hypersplenism may lead to thrombocytopenia , who may present with bleeding similar to our case . the risk of developing hematological impairment in the 1 year of life is about 75% and its onset within 3 months of life is indicative of a poor outcome . miop should be considered in the differential diagnosis of anemia with hepatosplenomegaly in an infant otherwise he / she may be wrongly diagnosed as a leukemia or other hemolytic anemia . increased risk of infections because of unrecognized immunologic abnormalities in patients with miop was observed . infact our baby presented to us with bronchopneumonia . in a study by fattore et al . bone ap was low in ad variety of osteopetrosis whereas it was high in ar variety . our child also had a p values of 3500u / l and elevation of ldh . u / l ) were markedly increased and they were within the normal range only in four subjects in a study by mazzolari et al . in a study by srinivasan et al . symptomatic hypocalcemia was observed in the 1 month of life in 8 infants with miop but our child had normal calcium levels . in a study by phadke et al . none of them had hypocalcemia and only one had alkaline phosphatase levels > 1500 clinical outcome with paratharmone , calcitrol , interferon gamma and prednisone therapy has been found to be inconsistent and variable . an accurate diagnosis is essential in view of availability of curative treatment ( bon emarrow transplant ) and for genetic counseling as the risk of recurrence in siblings is 25% . most of the children die during infancy or early child hood without curative treatment by bonemarrow transplantation . to conclude mio prema insun recognized as a cause of anemia with hepatospleenomegaly in less than 6 months of life and often results in diagnostic delay .
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 .