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A Case Report of Dysosteosclerosis Observed from the Prenatal Period

机译：产前时期观察到的骨盆硬化症一例报告

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Dysosteosclerosis is a sclerosing bone dysplasia with skeletal changes resembling those of osteopetrosis. The disorder is associated with dental anomalies and occasionally mental retardation. Because of the rarity and phenotypic diversity of dysosteosclerosis, it remains unsolved whether or not the disorder is heterogeneous. We report here on an affected boy associated with brain calcification and epilepsy with developmental delay. Prenatal ultrasound revealed ventriculomegaly, and brain CT in the neonatal period showed periventricular calcifications. At 13 mo of age, he presented with generalized convulsion with developmental delay. Metaphyseal sclerosis, metaphyseal undermodeling, and oval-shaped vertebral bodies on skeletal survey warranted a diagnosis of dysosteosclerosis. Retrospective review of radiographs as a neonate showed metaphyseal radiolucency, but not metaphyseal sclerosis. Since then, neither the bone changes nor neurological symptom has progressively worsened up to 4 yr of age. Thus, it is thought that the clinical and radiological manifestations of the sclerotic disorder become obvious during infancy. Brain calcification of prenatal onset may be an essential syndromic constituent of the disorder.
机译：骨营养不良是一种硬化性骨发育异常，其骨骼变化类似于骨质疏松症。该疾病与牙齿异常和偶尔的智力低下有关。由于营养不良性硬化症的罕见性和表型多样性，该疾病是否为异质性仍未解决。我们在这里报告了一个与脑钙化和癫痫伴发育迟缓有关的患病男孩。产前超声检查显示脑室肥大，新生儿时期的脑部CT显示脑室钙化。在13个月大的时候，他出现了全身性惊厥，发育迟缓。骨骼检查中的干phy端硬化，干phy端塑形和椭圆形椎体值得诊断为骨营养不良性硬化症。新生儿X线片的回顾性研究显示干meta端放射线透明性，但未见干phy端硬化症。从那时起，直到4岁，骨骼变化和神经系统症状均未逐渐恶化。因此，认为在婴儿期间硬化性疾病的临床和放射学表现变得明显。产前发作的脑钙化可能是该疾病的重要症状。

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