LETHAL HYPERAMMONEMIC COMA DUE TO ORNITHINE TRANSCARBAMYLASE DEFICIENCY PRESENTING AS BRAIN-STEM ENCEPHALITIS IN A PREVIOUSLY ASYMPTOMATIC 10-YEAR-OLD BOY
LETHAL HYPERAMMONEMIC COMA DUE TO ORNITHINE TRANSCARBAMYLASE DEFICIENCY PRESENTING AS BRAIN-STEM ENCEPHALITIS IN A PREVIOUSLY ASYMPTOMATIC 10-YEAR-OLD BOY
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DOI：
10.1007/bf01800076
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发表时间：
1987-01-01
影响因子：
4.2
通讯作者：
KNEER, J
中科院分区：
文献类型：
--
作者：
COSKUN, T;OZALP, I;KNEER, J
鸟氨酸引起的高氨血症。mylase （OTC; EC 2.1）3.3)缺陷（McKusick 31125）作为x连锁性状传播。然而，在部分OTC缺乏的情况下，临床症状在儿童期较晚才出现（Oizumi etal., 1984; Batshaw etal., 1986），可能与脑炎或脑病的临床表现非常相似（Aylsworth等）。, 1975;Batshaw等等。•在这里，我们报告了一个10岁的男孩，他被误诊为脑干脑炎，就像他的哥哥两年前在14岁时死亡的情况一样，随后被证明患有OTC缺乏症。•4名男性兄弟姐妹（年龄从40天到14岁不等）因不明原因死亡。据报道，他的发育阶段很正常。他因呕吐、发音障碍和持续一天的昏迷而入院。入院时，他明显无精打采。生化调查显示高氨-
Hyperammonaemia due to ornithine transcarba. mylase (OTC; EC 2.1. 3.3) deficiency (McKusick 31125) is transmitted as an X-linked trait. The disease is always lethal in the neonatal period in affected males with little or no enzyme activity• In partial OTC deficiency, however, clinical symptoms develop later in childhood (Oizumi et al., 1984; Batshaw et al., 1986) and may well resemble the clinical picture of either encephalitis or encephalopathies (Aylsworth etal., 1975; Batshaw etal., 1986)• Here we present a 10-year-old boy who was mistakenly diagnosed as having brain-stem encephalitis, as had been the case in his elder sibling who had died two years before at 14 years of age, and had subsequently been shown to have OTC deficiency. The patient was the only living male child born to healthy non-consanguineous parents• Four male siblings (age range 40 days to 14 years) had died due to unidentified causes. His developmental milestones were reportedly normal. He was admitted to hospital with vomiting, dysarticulation and stupor of one day's duration. On admission, he was markedly lethargic. Biochemical investigations revealed hyperammona-