Malignant Infantile Osteopetrosis with Bone Marrow Involvement

Authors

  • M. Khadga Department of Pediatric Gastroenterology and Nutrition, Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, Bangladesh
  • A. Z. M. Raihanur Rahman Department of Pediatric Gastroenterology and Nutrition, Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, Bangladesh
  • Md Benzamin Department of Pediatric Gastroenterology and Nutrition, Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, Bangladesh
  • N. Ahamed Department of Pediatric Gastroenterology and Nutrition, Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, Bangladesh
  • S. Akter Department of Pediatric Gastroenterology and Nutrition, Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, Bangladesh
  • Nahid-E-Subha Department of Pediatric Gastroenterology and Nutrition, Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, Bangladesh
  • M. Hasan Department of Pediatric Gastroenterology and Nutrition, Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, Bangladesh
  • L. N. Khan Department of Pediatric Gastroenterology and Nutrition, Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, Bangladesh
  • Md Rukunuzzaman Department of Pediatric Gastroenterology and Nutrition, Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, Bangladesh

DOI:

https://doi.org/10.3126/kumj.v20i1.49966

Keywords:

Fatal, Genetic, Malignant infantile osteopetrosis

Abstract

Osteopetrosis (Marble bone disease) is a very rare congenital genetic disease of skeleton, resulting from defective bone resorption, due to functionally defective osteoclast, leading to accumulation of excessive bone mass. Malignant infantile osteopetrosis (MIO) is one of the varieties of osteopetrosis, which is fatal and is diagnosed in early infancy. Malignant infantile osteopetrosis is present with abnormal bone remodeling, hematological abnormities, features of extramedullary hematopoiesis. Radiology is the key of diagnosis. In this case, we present a 5-month-old male infant diagnosed as malignant infantile osteopetrosis, who presented with bronchopneumonia, anemia, thrombocytopenia, hepatosplenomegaly, failure to thrive (FTT).

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Published

2022-03-31

How to Cite

Khadga, M., Raihanur Rahman, A. Z. M., Benzamin, M., Ahamed, N., Akter, S., Nahid-E-Subha, Hasan, M., Khan, L. N., & Rukunuzzaman, M. (2022). Malignant Infantile Osteopetrosis with Bone Marrow Involvement. Kathmandu University Medical Journal, 20(1), 107–110. https://doi.org/10.3126/kumj.v20i1.49966

Issue

Vol. 20 No. 1 (2022)

Section

Case Notes