RARELY SEEN OSTEOPETROSIS DISEASE IN A PATIENT PRESENTING WITH THROMBOCYTOPENIA

International Multidisciplinary Scientific Research Congress, Sivas, Türkiye, 4 - 06 Temmuz 2025, ss.225, (Özet Bildiri)

ABSTRACT

Malignant infantile osteopetrosis (MIOP) is a rare inherited genetic disorder characterized by increased

bone density and is clinically and genetically heterogeneous. Its symptoms may appear in very early

childhood. The excessive bone density leads to narrowing of the medullary cavity, resulting in

extramedullary hematopoiesis, hepatosplenomegaly, anemia, and thrombocytopenia. The sclerotic

skeletal obstruction may cause cranial nerve compression, leading to hearing and vision loss. The disease

is also associated with increased susceptibility to infections and delayed growth and development.

Therefore, particularly the autosomal recessive forms tend to follow a fatal course. Treatment options

include steroids, calcitriol, vitamin D, erythropoietin, and interferon gamma; however, hematopoietic

stem cell transplantation (HSCT) remains the only curative treatment.

A 2-month-old male infant was admitted to our clinic with thrombocytopenia and leukocytosis. Due to

the common differential diagnosis of acute infantile leukemia, bone marrow aspiration was performed.

Bone marrow and flow cytometry results revealed no evidence of blastic infiltration, and malignancy

was ruled out. Following an etiological investigation, the patient was diagnosed with osteopetrosis, a

rare condition.

In this report, we present a rare case of osteopetrosis diagnosed in an infant admitted to our clinic with

thrombocytopenia and leukocytosis.