恶性婴儿石骨症的临床及X线分析

Malignant Infantile Osteopetrosis:a Clinical and Radiological Analysis

目的:探讨恶性婴儿石骨症的临床影像学特点。方法:回顾性分析8例恶性婴儿石骨症临床、实验室检查及影像学资料,从临床影像学角度分析、归纳其临床病理特征及影像学特点。结果:本组患儿均呈贫血貌,肝脾肿大和生长发育迟缓,视神经受损2例。实验室检查异常指标:血红蛋白、红细胞、血小板均减少,2例患儿血钙浓度下降明显。影像学特征:①婴儿期全身性的骨质硬化,骨密度增高髓腔闭塞;②长骨塑形障碍显示棒球杆征,骨膜新骨形成;③长骨干骺端横行透亮带、见骨中骨征;④石骨症佝偻病改变及病理性骨折。结论:通过X线表现结合临床以及实验室检查通常能够明确恶性婴儿石骨症的诊断。

Objective：To explore the clinical and radiological characters of malignant infantile osteopetrosis （MIOP）. Methods：The clinical and radiological fingings were retrospectively studied in eight cases of MIOP. Their features were analyzed clinicopathologically. Results： All patients had anemia associated with hepatosplenomegaly and growth retardation. Optic nerve injury was found in two cases. Laboratory examination： hypochromia, hypoglobulia and thrombocytopenia, with hypocalcemia in two cases：Radiological features .. generalised bone sclerosis with loss corticomedullary differentiation. ＂Baseball club＂ appearance due to modelling deformity of long bones, periosteal new bone formation, metaphyseal luceneies, ＂bone within a bone＂ appearance, osteopetrorachitic changes and fractures. Conclusion：When the radiological features are identical with the clinical ones,MIOP can he diagnosed. A bone biopsy is not usually required.