ABSTRACT

Malignant infantile osteopetrosis (MIOP) is a rare inherited genetic disease that is clinically and genetically heterogenic, characterized by increased bone density, and the symptoms may be seen in very early childhood. The increased bone density narrows the medullary cavity, resulting in extramedullary hematopoiesis, causing hepatosplenomegaly, anemia, and trombocytopenia. Sclerosing skeletal obstruction can cause cranial nerve compression and hearing and vision loss. It results in a tendency toward infections and a delay in growth and development. Therefore, especially the autosomal recessive forms show a fatal course. Along with the use of steroid, calcitriol, vitamin D, erythropoietin, and interferon gamma for the treatment, the definitive therapy is hematopoietic stem cell transplantation. In this case report, a female patient who we diagnosed with malignant ınfantile osteopetrosis after examination for 2 months due to hepatosplenomegaly, anemia, thrombocytopenia, and growth failure is presented. A 2-month-old female infant was admitted with complaints of vomiting and failure to gain weight. The physical examination revealed hepatomegaly, with the liver noted to be 4 cm, and splenomegaly, with the spleen noted to be 2-3 cm. The patient had a typical facial appearance with forehead protrusion, hypertelorism, and nystagmus. Her weight was below the 3rd percentile, her height was below the 3rd percentile, and the head circumference of the patient was in the 25th-50th percentile. A peripheral blood smear was observed with nucleated red cells, granulocytes precursors, and teardrop-shaped red blood (leukoerythroblastosis). Bone x-rays were normal, but pathognomonic osteopetrosis “glasses findings” were revealed after 10 days. All bone density increases due to excessive osteosclerosis at the distinction between the medulla and cortex were observed to disappear. Bone marrow aspiration showed hypocellular bone marrow. Bone marrow biopsy findings were diagnosed with osteopetrosis. After the case was diagnosed, a hematopoietic stem cell transplantation was made in a specialized center. Follow-up still continues. Malignant infantile osteopetrosis is a rare inherited genetic disease that is seen more than the known incidence in our country because of the high rates in-kin marriage. Even if the radiological findings do not start like how it was with our patient, if we are thinking about this sickness, we should repeat the radiological findings. Early diagnosis and treatment can prevent the harm of hearing and vision senses and the development of neurological damage of the patient. (JAREM 2014; 4: 121-4)

Keywords: Osteopetrosis, infant, hepatomegaly, splenomegaly