Published: 2021-06-24

Malignant infantile osteopetrosis with rickets presenting with bicytopenia in septic shock: case report

Varun Govindarajan, Thanzir Mohammed, Meghana Jagadish, Mallesh Kariyappa


Malignant infantile osteopetrosis is a rare, fatal autosomal recessive disorder due to abnormal osteoclast activity. We report a 1-year-old infant, born to consanguineously married couple, who presented to our ER with acute respiratory distress and bicytopenia. He had tender hepatomegaly, splenomegaly, failure to thrive and features of rickets. He was evaluated previously for possible hydrocephalus secondary to his abnormal shape of head with proptosis, MRI revealed a subarachnoid cyst, but possibility of osteopetrosis was missed. Skeletal radiographs done later detected dense, sclerotic bone with sandwich vertebra, provided a delayed diagnosis of MIOP. Rickets, a paradoxical association, was also seen in our case, with low serum calcium and vitamin D3 levels. He succumbed due to severe bronchopneumonia with septic shock. Early diagnosis and timely hematopoietic stem cell transplant are the only curative approach for MIOP, which is otherwise fatal.


Osteopetrosis, Hepatomegaly, Splenomegaly, Pancytopenia, Rickets

Full Text:



Bubshait DK, Himdy ZE, Fadaaq O, Alshmas HI. Malignant Infantile Osteopetrosis: A Case Report. Cureus. 2020;12(1):6725.

Chaudhary S, Sharma A. Infantile malignant osteopetrosis: A case report with review of literature. J Indian Acad Oral Med Radiol. 2008;20:151-6.

Yadav S, Chalise S, Chaudhary S, Shah GS, Gupta MK, Mishra OP. Osteopetrosis in two siblings: two case reports. BMC Res Notes. 2016;9:55.

Bukte Y, Gurkan F, Davutoglu M, Gozu A, Bilici M. Infantile Osteopetrosis associated with Rickets. Eur J Gen Med. 2005; 2(1):32-4.

Patil, M. Osteopetro-Rickets: A Rare Paradoxical Association in an Infant. J Nepal Paediatr Society. 2012;32(1):88-9.

Sobky TA, Elsobky E, Sadek I, Elsayed SM, Khattab MF. A case of infantile osteopetrosis: The radioclinical features with literature update. Bone Rep. 2015;4:11-6.