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

Authors

  • Varun Govindarajan Department of Pediatrics, Bangalore Medical College and Research Institute, Bengaluru, Karnataka, India http://orcid.org/0000-0002-3323-2030
  • Thanzir Mohammed Department of Pediatrics, Bangalore Medical College and Research Institute, Bengaluru, Karnataka, India http://orcid.org/0000-0002-5598-7506
  • Meghana Jagadish Department of Pediatrics, Bangalore Medical College and Research Institute, Bengaluru, Karnataka, India http://orcid.org/0000-0002-4304-6725
  • Mallesh Kariyappa Department of Pediatrics, Bangalore Medical College and Research Institute, Bengaluru, Karnataka, India

DOI:

https://doi.org/10.18203/2349-3291.ijcp20212483

Keywords:

Osteopetrosis, Hepatomegaly, Splenomegaly, Pancytopenia, Rickets

Abstract

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.

Author Biographies

Varun Govindarajan, Department of Pediatrics, Bangalore Medical College and Research Institute, Bengaluru, Karnataka, India

Junior Resident, Department of Paediatrics

Thanzir Mohammed, Department of Pediatrics, Bangalore Medical College and Research Institute, Bengaluru, Karnataka, India

Junior Resident, Department of Paediatrics

Meghana Jagadish, Department of Pediatrics, Bangalore Medical College and Research Institute, Bengaluru, Karnataka, India

Junior Resident, Department of Paediatrics

Mallesh Kariyappa, Department of Pediatrics, Bangalore Medical College and Research Institute, Bengaluru, Karnataka, India

Professor & HOD, Department of Paediatrics

References

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.

Downloads

Published

2021-06-24

Issue

Section

Case Reports