Syed M Javed Iqbal, Izzah Hassan Samra, Maria Javed
The Anatolian Journal of Family Medicine - 2026;9(1):33-35
Osteopetrosis, a rare genetic disorder, presents in two major forms: Autosomal recessive and autosomal domi -nant osteopetrosis. This disorder is characterized by loss of osteoclastic activity, which results in increased bone density. In this case, an 8-month-old female presented with acute respiratory distress, hepatosplenomegaly, anemia, and frontal bossing. Diagnosis was established based on characteristic radiological findings, including the classic "bone-in-bone" appearance. In infants presenting with anemia and hepatosplenomegaly, osteopetrosis should be considered a differential diagnosis. Early diagnosis through genetic typing and treatment with hematopoietic stem cell transplantation may prevent life-threatening complications.
