Kumar Kalenahalli Jagadish, Bandaru Kasi, Prashanth Sathya Narayana, Mamatha Sangaraju
Department of Pediatrics, JSS Medical College, JSS University, Mysore, Karnataka, India.
Indian J Hum Genet. 2013 Jan;19(1):90-2. doi: 10.4103/0971-6866.112911.
Osteopetrosis, a rare congenital genetic disease characterized by increased bone density due to impaired bone resorption by osteoclasts. It is classified into three forms: Infantile malignant autosomal recessive (AR) osteopetrosis, intermediate (AR) osteopetrosis and autosomal dominant (AD) osteopetrosis. Incidence of infantile malignant AR is 1/2,00,000 and if untreated has a fatal outcome. The condition is commonly diagnosed in infancy with symptoms of significant hematologic abnormalities with bone marrow failure, hepatosplenomegaly, macrocephaly with frontal bossing and bone fractures. Because of rarity of this type of malignant infantile form of osteopretrosis, we like to report this case of malignant infantile osteopetrosis who presented with bronchopneumonia, anemia with melaena at 2 months 15 days of age.
骨质石化症是一种罕见的先天性遗传病，其特征是由于破骨细胞的骨吸收受损导致骨密度增加。它分为三种类型：婴儿恶性常染色体隐性（AR）骨质石化症、中间型（AR）骨质石化症和常染色体显性（AD）骨质石化症。婴儿恶性AR型的发病率为1/200,000，若不治疗则会导致致命后果。这种疾病通常在婴儿期被诊断出来，症状包括严重的血液学异常、骨髓衰竭、肝脾肿大、伴有额部突出的巨头畸形和骨折。由于这种婴儿恶性型骨质石化症较为罕见，我们特此报告一例2个月15天大的患有支气管肺炎、贫血伴黑便的婴儿恶性骨质石化症病例。
