Acute brainstem dysfunction in neonatal hyperammonemia with ornithine transcarbamylase deficiency: A case report

Fang Wang , Yuichi Abe , Mureo Kasahara , Reiko Horikawa , Itaru Hayakawa
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Abstract

Background

Ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle disorder that causes episodic hyperammonemia. Many newborns with OTCD present with nausea, delirium, lethargy, and seizure during a metabolic attack; however, brainstem failure as a complication has been rarely reported.

Case report

A 4-day-old boy developed progressive lethargy and apnea. Neurological examination when he was 5 days old revealed the absence of brainstem responses and the disappearance of systemic deep tendon reflexes with flaccid limbs, and a blood test revealed hyperammonemia (2178 µg/dL). Continuous hemodiafiltration therapy was started immediately, and whole-brainstem reflexes and systemic tendon reflexes reappeared. Subsequent genetic testing revealed a pathogenic variant of the OTC gene (p.D126G). Brain magnetic resonance imaging (MRI) at 11 days of age showed no diffuse brain edema but transient mild swelling of the basal ganglia, hyperintensity of the deep region of the paracentral sulcus and basal ganglia on T1-weighted and fluid-attenuated inversion recovery images, and symmetric restricted diffusion along the pyramidal tract. Of interest was that MRI showed no abnormalities in the brainstem other than in the cerebral peduncles.

Conclusion

This is the first detailed report of chronological recovery from brainstem dysfunction in a newborn with OTCD.

新生儿高氨血症合并鸟氨酸转氨酶缺乏症的急性脑干功能障碍:病例报告
背景鸟氨酸转氨酶缺乏症(OTCD)是最常见的尿素循环障碍,会导致发作性高氨血症。许多患有转氨酶缺乏症的新生儿在代谢性疾病发作时会出现恶心、谵妄、嗜睡和惊厥等症状,但脑干功能衰竭作为一种并发症的报道却很少。在他出生 5 天时进行的神经系统检查发现,他没有脑干反应,全身深腱反射消失,四肢松弛,血液检查发现他患有高氨血症(2178 µg/dL)。随即开始连续血液滤过治疗,全脑干反射和全身腱反射重新出现。随后的基因检测发现了 OTC 基因的致病变体(p.D126G)。11 天大时的脑磁共振成像(MRI)显示没有弥漫性脑水肿,但基底节有一过性轻度肿胀,T1 加权和液体衰减反转恢复图像上中央沟旁和基底节深部区域密度过高,锥体束沿对称性弥散受限。值得注意的是,核磁共振成像显示除大脑脚外,脑干未见异常。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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