Recurrent somnolence in a 17-month-old infant: Late-onset ornithine transcarbamylase (OTC) deficiency due to the novel hemizygous mutation c.535C > T (p.Leu179Phe)
Recurrent somnolence in a 17-month-old infant: Late-onset ornithine transcarbamylase (OTC) deficiency due to the novel hemizygous mutation c.535C > T (p.Leu179Phe)
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DOI：
10.1016/j.ejpn.2012.05.007
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发表时间：
2013-01-01
影响因子：
3.1
通讯作者：
Fruehwirth, Martin
中科院分区：
文献类型：
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作者：
Fantur, Michaela;Karall, Daniela;Fruehwirth, Martin
在此，我们描述了一个28个月大的男孩谁提出了在17个月的年龄与复发性呕吐和嗜睡在四个月的时间内，严重程度不断增加的四个事件。一项全面的临床和代谢评估显示，血液pH值和血糖正常，脑计算机断层扫描和脑电图正常，但血浆氨浓度升高，这引起了尿素循环障碍的怀疑。尿乳清酸和血浆谷氨酰胺升高与瓜氨酸正常的组合表明诊断为鸟氨酸转氨甲酰酶（OTC）缺乏症，这是通过分子遗传学检测证实的，揭示了OTC基因的新半合子突变c.535C > T（p.Leu179Phe）。通过给予肠外葡萄糖、瓜氨酸替代和苯甲酸钠氨解毒恢复麻醉后，患者迅速恢复，此后代谢和神经系统状态稳定。该病例强调，在鉴别诊断复发性特发性呕吐时，应考虑尿素循环缺陷的诊断，同时由于可能存在轻度或非典型迟发性表现（例如，半合子男性的OTC缺乏症），在新生儿期后还出现不明原因的神经系统症状。(C)2012年欧洲儿科神经病学学会。由爱思唯尔有限公司出版。保留所有权利。
Herein, we describe a case of a now 28-month-old boy who presented at the age of 17 months with four episodes of recurrent vomiting and somnolence during a period of four months with increasing severity. A comprehensive clinical and metabolic evaluation revealed normal blood pH and blood glucose, normal cerebral computed tomography and electroencephalogram but an elevated plasma ammonia concentration, which raised the suspicion of a urea cycle disorder. The combination of elevated urinary orotic acid and plasma glutamine with normal citrulline suggested the diagnosis of ornithine transcarbamylase (OTC) deficiency, which was confirmed by molecular genetic testing revealing the novel hemizygous mutation c.535C > T (p.Leu179Phe) of the OTC gene. After restitution of anabolism by administration of parenteral glucose, substitution of citrulline and detoxification of ammonia with sodium benzoate, the patient recovered rapidly and is in a stable metabolic and neurological state since then. This case underlines that the diagnosis of a urea cycle defect should be considered in the differential diagnosis of recurrent idiopathic vomiting in combination With unexplained neurological symptoms also beyond the neonatal period due to the possibility of mild or atypical late-onset presentation (e.g. OTC deficiency in hemizygous males). (C) 2012 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.