Abstract：
Osteopetrosis encompasses rare inherited metabolic bone disorders with defect in the osteoclast activity. Severe forms of presentation such as malignant infantile osteopetrosis are seen in infants and milder forms in older children. The clinical presentation includes failure to thrive, severe pallor, optic atrophy and hepatosplenomegaly. The disorder is characterised by dense bone on radiography, hence the name marble bone disease. A 10-month-old boy who presented with developmental delay, failure to thrive, nystagmus (which the mother described as wandering eye movements), splenomegaly of 16 cm and hepatomegaly of 8 cm. Investigations demonstrated severe anaemia (5.7 g/dL) and thrombocytopenia (34 x 109/L). Radiological signs which help in the diagnosis include diffuse sclerosis, bone within bone appearance, sandwich vertebrae and Erlenmeyer flask deformity. Plain radiography is an easily available and cost effective tool which can aid in the diagnosis of osteopetrosis.
摘要：
骨硬化包括罕见的遗传性代谢性骨病，并伴有破骨细胞活性缺陷。在婴儿中可以看到严重的表现形式，例如恶性婴儿石骨症，在年龄较大的儿童中可以看到较温和的形式。临床表现包括未能茁壮成长，严重的苍白，视神经萎缩和肝脾肿大。这种疾病的特征是X线片上的骨骼致密，因此得名大理石骨病。一个10个月大的男孩出现发育迟缓，未能茁壮成长，眼球震颤（母亲描述为眼球运动），脾肿大16厘米，肝肿大8厘米。调查显示严重贫血（5.7g/dL）和血小板减少症（34x109/L）。有助于诊断的放射学体征包括弥漫性硬化症，骨内骨外观，夹心椎骨和锥形瓶畸形。X线平片是一种易于获得且具有成本效益的工具，可以帮助诊断骨硬化病。
