Anemia with massive splenomegaly an uncommon presentation of osteopetrosis in adult


  • Rajesh Chetiwal Department of Medicine, ESI, PGIMSR, Basaidarapur, New Delhi - 110015, India
  • Ajit K. Naik Department of Medicine, ESI, PGIMSR, Basaidarapur, New Delhi - 110015, India
  • O. P. Lakhwani Department of Orthopaedics, ESI, PGIMSR, Basaidarapur, New Delhi - 110015, India



Myelophthisic anemia, Marble bone, Osteopetrosis, Skeletal dysplasia, Splenomegaly


Osteopetrosis was first described by a Germen radiologist Albers - Schoenberg in 1904. It is characterized by excessive density of bones leading to typical "chalk bone" appearance on skiagram. There is a defect in the osteoclastic activity which leads to failure in remodeling of the developing bone. This excessive formation of bone with defective osteoclastic activity leads to mechanically weak bone. So, fractures on minor trauma are common presentation of the disease. Obliteration of marrow cavities leads to development of secondary anemia which is a feature of infantile form of osteopetrosis (malignant osteopetrosis), usually seen in infants and early childhood. Adult form of osteopetrosis known as benign osteopetrosis may remain asymptomatic and causes delay in the early diagnosis of it. Anemia and massive splenomegaly in adult is a very uncommon presentation of the osteopetrosis, as seen in this interesting case which we are discussing further in detail.

Author Biography

Rajesh Chetiwal, Department of Medicine, ESI, PGIMSR, Basaidarapur, New Delhi - 110015, India


Department of medicine


Tripathi AK, Tandon V, Kumar A, Sarkari M, Chaturvedi R. A rare cause of Leucoerythroblastic anemia. India J Hematol Blood Transf. 1998;16:62-4.

Bodamer OA, Braverman RM, Craigen WJ. Multiple fractures in a 3-month-old infant with severe infantile osteopetrosis. J Pediatr Child Health. 2001;37:520–2.

Bénichou OD, Laredo JD, de Vernejoul MC. Type II AD osteopetrosis; clinical and radiological manifestations in 42 patients. Bone. 2000;26:87–93.

Chen CJ, Lee MY, Hsu ML, Lien SH, Cheng SN. Malignant infantile osteopetrosis initially presenting with neonatal hypocalcemia: case report. Ann Hematol. 2003;82(1):64-7.

Mahdi AH. Osteopetrosis in Saudi children: A report of 10 cases. Ann Trop Pediatric. 1988;8:112-5.

Stark Z, Savarirayan R. Osteopetrosis. Orphanet J Rare Dis. 2009;4:5.

Loria-Cortes R, Quesada-Calvo E, Cordero-Chaverri C. Osteopetrosis in children: A report of 26 cases. J Pediatr. 1977;91:43-7.

Kumar P, Shashi Kala P, Chandrashekhar HR, Basavargin Band AS. Osteopetrosis presenting as leuko-erythroblastic anemia: A case report. Indian J Haematol Blood Transf.1998;116:260-1.

Sharma A, Kumar S. Osteopetrosistarda: A case report. J Indian Med Assoc.1999;97:22-4.

Hunt NP, Cunningham SJ, Adnan N, Harris M. The dental, craniofacial, and biochemical features of pyknodysostosis: a report of three new cases. J Oral Maxillofac Surg. 1998;56:497-504.






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