Malignant Infantile Osteopetrosis: A Rare Genetic Disorder

Introduction: Osteopetrosis is a clinical syndrome characterized by impairment in the production or function of osteoclasts, leading to bone condensation. Symptoms and their onset depend on the disease’s hereditary pattern. Case Report: We report a 6-month-old female with dysmorphic features, failure to thrive, lymphadenopathy, hepatosplenomegaly, anemia, and thrombocytopenia. Born term by emergency lower cesarean section due to fetal distress, she was admitted into the neonatal intensive care unit (NICU) for 22 days. Complete blood count (CBC) showed hemoglobin (Hb) 13.6 g/dL, white blood cell (WBC) 14.3 × 10⁹/L, platelet 30 × 10⁹/L, manual 35 x 10⁹/L. At the age of 6 weeks, she was seen in a hematology clinic for thrombocytopenia where she was admitted for bone marrow aspiration. The sample was inadequate, and no megakaryocytes were seen. A skeletal survey was done, it showed evidence of diffuse osteosclerosis overlying the bones, mainly long bones of the upper and lower limbs as well as the metacarpals, metatarsals, and phalangeal bones of both hands and feet. Congenital osteopetrosis was suspected, thus parents opted for second medical advice in Germany where a molecular genetic test confirmed the diagnosis. Discussion: The patient presented with a wide range of symptoms, the diagnosis of osteopetrosis depends on skeletal radiology and is confirmed by the genetic test. Currently, hematopoietic stem cell transplantation (HSCT) is the only therapeutic intervention available causing it to be the sole opportunity for recovery; however, it cannot be used in all types of osteopetrosis. Conclusion: The approach to such cases must be comprehensive and must be done by a multidisciplinary team to address and manage the existing symptoms and complications.