Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, University Medical Center Ljubljana, Ljubljana, Slovenia.
Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
Am J Case Rep. 2021 Oct 11;22:e932864. doi: 10.12659/AJCR.932864.
BACKGROUND Reye syndrome (RS) is a rare life-threatening condition combining acute noninflammatory encephalopathy and acute liver failure with an absence of defined etiology. We present a case of fulminant RS that had a good neurological outcome. CASE REPORT A 4-year-old previously healthy boy had no history of acetylsalicylic acid (ASA) use, nor had he been diagnosed with any inborn errors of metabolism. RS was preceded by a mild viral infection, possibly caused by human bocavirus, which has not been previously implicated in RS. He presented with a combination of a very high concentration of ammonia but only mildly elevated aminotransferases and mild hypoglycemia. Computed tomography (CT) of the head additionally showed diffuse cerebral edema with tentorial herniation. The extensive metabolic evaluation did not confirm any inborn errors of metabolism to explain the etiology. We provided optimal treatment of severe hyperammonemia (>500 µmol/L) and cerebral edema, including high doses of arginine chloride, sodium benzoate, hemodialysis, mild hypothermia, and supportive care. He has been followed up for over 4 years. The patient recovered completely, with no long-term psycho-cognitive or neurological sequelae. CONCLUSIONS Although extremely rare, hyperammonemia and RS should be considered in cases of an acute encephalopathy to be treated as soon and as decisively as possible to enable a good outcome.
瑞氏综合征(RS)是一种罕见的危及生命的疾病,其特征为急性非炎症性脑病和急性肝衰竭,同时病因不明。我们报告了一例暴发性 RS 病例,该病例具有良好的神经预后。
一名 4 岁既往健康的男孩无乙酰水杨酸(ASA)使用史,也未被诊断为任何先天性代谢缺陷。RS 之前发生了轻度病毒感染,可能由人类博卡病毒引起,该病毒以前与 RS 无关。他表现为高浓度的氨,同时仅有轻度升高的氨基转移酶和轻度低血糖。头部计算机断层扫描(CT)还显示弥漫性脑水肿伴天幕疝。广泛的代谢评估未证实任何先天性代谢缺陷可解释病因。我们提供了最佳的治疗严重高氨血症(>500µmol/L)和脑水肿的方案,包括使用精氨酸氯、苯甲酸钠、血液透析、轻度低温和支持性护理。他已随访超过 4 年。患者完全康复,无长期心理认知或神经后遗症。
尽管极为罕见,但对于急性脑病患者,应考虑高氨血症和 RS,并尽快进行治疗,以获得良好的预后。