Zarei Kasra, Bernat John A, Sato Yutaka, Segal Rachel, Bhoojhawon Guru
University of Iowa, Carver College of Medicine, 200 Hawkins Drive, Iowa City, IA 52242, USA.
Case Rep Pediatr. 2020 Nov 24;2020:3246762. doi: 10.1155/2020/3246762. eCollection 2020.
Infants presenting with multiple fractures without a plausible accident history need to be evaluated for child abuse or underlying predisposing conditions such as osteogenesis imperfecta and hypophosphatasia. We present a case of infantile hypophosphatasia with multiple unexplained fractures but otherwise normal radiographs in the setting of biochemical and genetic evidence of hypophosphatasia. Standard screening tests for hypophosphatasia include serum alkaline phosphatase level and genetic testing. Despite the presented case's positive biochemical and genetic testing, the case did not have any other radiologic finding suggesting infantile hypophosphatasia, such as severe bone mineralization deficits and rickets. While patients with hypophosphatasia can have increased bone fragility, this has been reported in the context of radiologic abnormalities of the skeleton. Thus, this case is potentially the first reported infantile hypophosphatasia case presenting with no findings of rickets on radiographs, raising concern that the fractures and especially the radius head dislocation might be due to physical abuse.
对于那些出现多处骨折但无合理意外史的婴儿，需要评估是否存在虐待儿童的情况或潜在的易患疾病，如成骨不全和低磷酸酯酶症。我们报告了一例婴儿型低磷酸酯酶症病例，该婴儿有多处不明原因骨折，但在有低磷酸酯酶症的生化和基因证据的情况下，X线片其他方面正常。低磷酸酯酶症的标准筛查测试包括血清碱性磷酸酶水平和基因检测。尽管该病例的生化和基因检测呈阳性，但该病例没有任何其他提示婴儿型低磷酸酯酶症的放射学表现，如严重的骨矿化缺陷和佝偻病。虽然低磷酸酯酶症患者的骨脆性可能增加，但这是在骨骼放射学异常的背景下报道的。因此，该病例可能是首例报道的婴儿型低磷酸酯酶症病例，X线片上没有佝偻病表现，这引发了人们对骨折尤其是桡骨头脱位可能是由于身体虐待所致的担忧。
