Kalyanasundaram Kathiravan, Jegadeesan Podhini, Mohan Sibi Chakravarthy, Ponnurangam Vinoth N
Department of Pediatrics, Sri Ramachandra Medical College, Chennai, Tamil Nadu, India.
J Clin Imaging Sci. 2014 Aug 30;4:48. doi: 10.4103/2156-7514.139738. eCollection 2014.
Osteopetrosis is a rare congenital disorder of bone resorption, caused by failure of osteoclasts to reabsorb immature bone. Malignant infantile osteopetrosis presents in early life with generalized osteosclerosis and decreased bone marrow spaces, resulting in anemia, splenohepatomegaly due to extramedullary hematopoiesis, cranial nerve compression, and growth failure. It is a fatal condition with death occurring within the first year of life. Bone marrow transplant remains the only curative treatment. We present a report of an infant with splenohepatomegaly, who was diagnosed with malignant infantile osteopetrosis.
骨质石化症是一种罕见的先天性骨吸收障碍疾病，由破骨细胞无法重吸收未成熟骨所致。恶性婴儿型骨质石化症在生命早期表现为全身性骨硬化和骨髓腔减小，导致贫血、由于髓外造血引起的脾肝肿大、颅神经受压及生长发育迟缓。这是一种致命疾病，通常在出生后第一年内死亡。骨髓移植仍然是唯一的治愈性治疗方法。我们报告一例患有脾肝肿大的婴儿，该婴儿被诊断为恶性婴儿型骨质石化症。
