Thomas Jefferson University, Philadelphia, PA, USA; Department of Pediatric Ophthalmology and Ocular Genetics, Wills Eye Hospital, Philadelphia, PA, USA.
Philadelphia College of Osteopathic Medicine, Philadelphia, PA, USA.
Child Abuse Negl. 2021 Aug;118:105070. doi: 10.1016/j.chiabu.2021.105070. Epub 2021 May 25.
The characteristic findings of abusive head trauma (AHT) include retinal hemorrhages (RH). RH have many etiologies in childhood, which should be considered in the differential diagnosis of possible child abuse. The relationship between RH and thrombophilia in children is not well established.
In this literature review, we sought to assess whether retinal findings in pediatric patients with thrombophilia could mimic those of AHT.
A literature search was performed to identify all cases of thrombophilia in children less than 18 years old with ocular manifestations. Disorders of thrombophilia including protein C and S deficiency, factor V Leiden (FVL), prothrombin variant, MTHFR mutation, hyperhomocysteinemia, elevated factor VIII, and elevated lipoprotein (a) were considered. All cases of pediatric thrombophilia with retinal examination or intraocular bleeding were included. If provided, descriptions of the RH were reviewed.
Our initial search yielded 514 results. Forty-three articles met our inclusion criteria. We identified 3 children with RH within the AHT usual age range (<5 years old), ages 5 weeks and 7 weeks old, in the setting of thrombophilia. One child had ocular findings that could potentially mimic abuse. No other indicators of abuse were present in this case.
Based on previous reports, thrombophilia alone has not been shown to clearly mimic abusive head trauma. In reported cases of thrombophilia with RH, the clinical picture and ophthalmic findings are usually distinct from abuse.
虐待性头部外伤 (AHT) 的特征性发现包括视网膜出血 (RH)。RH 在儿童中有许多病因，在考虑虐待的可能时应将其纳入鉴别诊断。儿童 RH 与血栓形成倾向之间的关系尚未得到充分证实。
在本次文献复习中，我们试图评估儿童血栓形成倾向患者的视网膜表现是否可能类似于 AHT。
进行了文献检索，以确定所有年龄小于 18 岁且有眼部表现的儿童血栓形成倾向病例。血栓形成倾向障碍包括蛋白 C 和 S 缺乏、因子 V 莱顿突变 (FVL)、凝血酶原变异、MTHFR 突变、高同型半胱氨酸血症、因子 VIII 升高和脂蛋白 (a) 升高。所有有视网膜检查或眼内出血的儿科血栓形成倾向病例均被纳入。如果有提供，我们会对 RH 的描述进行审查。
我们最初的搜索产生了 514 个结果。有 43 篇文章符合我们的纳入标准。我们在血栓形成倾向的背景下发现了 3 例年龄在 AHT 常见年龄范围内（<5 岁）的儿童 RH，年龄分别为 5 周和 7 周。有 1 例患儿的眼部发现可能有潜在的虐待迹象。在这种情况下，没有其他虐待的迹象。
根据以往的报告，血栓形成倾向本身并未明显模仿虐待性头部外伤。在有 RH 的报道的血栓形成倾向病例中，临床和眼科表现通常与虐待不同。
