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Peer-reviewedCC BY-NC-NDRadiology case reports

Osteopetrosis masquerading as hereditary hemolytic anemia: A case report of a 13-year-old girl with massive splenomegaly.

  • A K M Munim Khan1
  • Tushar Kanti Bhadra2
  • Mohammad Abdus Sattar Sarker3
  • Muntasir Hasnain3
  1. 1Department of Cardiology, National Institute of Cardiovascular Diseases, Sher-e-Bangla Nagar, Dhaka, 1207, Bangladesh.
  2. 2Department of Cardiovascular and Thoracic Surgery, National Institute of Cardiovascular Diseases, Sher-e-Bangla Nagar, Dhaka, 1207, Bangladesh.
  3. 3Department of Medicine, Sir Salimullah Medical College Mitford Hospital, Dhaka, 1100, Bangladesh.
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Abstract

Osteopetrosis is a rare skeletal disorder caused by osteoclast dysfunction. Here, we present a 13-year-old girl with a 7-month history of abdominal lump and weakness, first considered to have hereditary hemolytic anemia due to significant splenomegaly, hepatomegaly, pallor, and jaundice. Radiographs demonstrated diffuse osteosclerosis with a "bone-within-bone" appearance, while a bone marrow trephine biopsy revealed sclerotic trabeculae with reduced marrow space, validating osteopetrosis. This example emphasizes the significance of radiographic and histopathological correlation and illustrates how osteopetrosis can mimic hereditary hemolytic anemia.

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Cite

BibTeXRIS
BibTeX
@article{khan2026osteopetrosis,
  title = {{Osteopetrosis masquerading as hereditary hemolytic anemia: A case report of a 13-year-old girl with massive splenomegaly.}},
  author = {A K M Munim Khan and Tushar Kanti Bhadra and Mohammad Abdus Sattar Sarker and Muntasir Hasnain},
  journal = {Radiology case reports},
  year = {2026},
  month = oct,
  doi = {10.1016/j.radcr.2026.09.086},
  url = {https://europepmc.org/article/MED/42927232},
  note = {CC BY-NC-ND},
}
RIS
TY  - JOUR
TI  - Osteopetrosis masquerading as hereditary hemolytic anemia: A case report of a 13-year-old girl with massive splenomegaly.
AU  - A K M Munim Khan
AU  - Tushar Kanti Bhadra
AU  - Mohammad Abdus Sattar Sarker
AU  - Muntasir Hasnain
PY  - 2026
DA  - 2026/10/16
JO  - Radiology case reports
DO  - 10.1016/j.radcr.2026.09.086
UR  - https://europepmc.org/article/MED/42927232
AB  - Osteopetrosis is a rare skeletal disorder caused by osteoclast dysfunction. Here, we present a 13-year-old girl with a 7-month history of abdominal lump and weakness, first considered to have hereditary hemolytic anemia due to significant splenomegaly, hepatomegaly, pallor, and jaundice. Radiographs demonstrated diffuse osteosclerosis with a "bone-within-bone" appearance, while a bone marrow trephine biopsy revealed sclerotic trabeculae with reduced marrow space, validating osteopetrosis. This example emphasizes the significance of radiographic and histopathological correlation and illustrates how osteopetrosis can mimic hereditary hemolytic anemia.
SN  - 1930-0433
ER  -