Usta Merve, Gulec Seda Geylani, Karaman Serap, Erdem Ela, Emral Hicran, Urgancı Nafiye
Department of Pediatric Gastroenterology, Sisli Etfal Education and Research Hospital, Istanbul, Turkey.
Iran J Pediatr. 2012 Sep;22(3):421-4.
Malignant infantile osteopetrosis (MIOP) presents early in life with extreme sclerosis of the skeleton and reduction of bone marrow spaces. Since there is a defect in the bone marrow, the disease can cause anemia, extramedullary hematopoiesis secondary to anemia leading to hepatosplenomegaly, cranial nerves compression and severe growth failure. This disorder is often lethal within the first decade of life because of secondary infections. Stem cell transplantation (SCT) remains the only curative therapy.
We report a two-month old male infant, diagnosed as MIOP while investigating the cause of hepatosplenomegaly. The patient was referred for stem cell transplantation.
Malignant infantile osteopetrosis should be kept in mind as a rare cause of hepatosplenomegaly and the patient should be referred for stem cell transplantation before neurologic or visual impairment develops.
恶性婴儿骨硬化症（MIOP）在生命早期表现为骨骼极度硬化和骨髓腔减少。由于骨髓存在缺陷，该疾病可导致贫血，贫血继发的髓外造血导致肝脾肿大、颅神经受压和严重生长发育迟缓。由于继发感染，这种疾病在生命的第一个十年内通常是致命的。干细胞移植（SCT）仍然是唯一的治愈性疗法。
我们报告一名两个月大的男婴，在调查肝脾肿大原因时被诊断为MIOP。该患者被转诊进行干细胞移植。
应将恶性婴儿骨硬化症视为肝脾肿大的罕见原因，并且应在神经或视力损害出现之前将患者转诊进行干细胞移植。
