A case of SNX10 gene mutation in a patient with infantile malignant osteopetrosis (IMO) was admitted to Department of Pediatrics, Third Xiangya Hospital, Central South University. The patient had the symptom of anemia, hepatosplenomegaly and growth retardation. The X-ray examination suggested extensive increase of bone density throughout the body, which was clinically diagnosed as IMO. The homozygous mutation of SNX10 gene c.61C>T was found via gene sequencing. We reviewed the relevant literatures and found that anemia, visual and hearing impairment, hepatosplenomegaly are the main clinical symptoms of IMO, SNX10 gene mutation is a rare cause of IMO, and hematopoietic stem cell transplantation is an effective treatment.
中南大学湘雅三医院儿科收治1例SNX10基因突变致婴儿恶性石骨症(infantile malignant osteopetrosis，IMO)患儿。该患儿临床表现为贫血、肝脾肿大、生长发育迟缓，X线检查提示全身骨密度广泛增高，临床诊断为IMO。基因测序为SNX10基因c.61C>T纯合突变。通过对国内外相关文献进行复习，发现贫血、视听力障碍、肝脾肿大是IMO的主要临床症状，SNX10基因突变是导致IMO的罕见原因，造血干细胞移植是其有效的治疗手段。.
Keywords: SNX10; hematopoietic stem cell transplantation; infantile malignant osteopetrosis.