Keppler K, Cunniff C
Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock.
Am J Dis Child. 1992 Nov;146(11):1349-52. doi: 10.1001/archpedi.1992.02160230107029.
To describe three patients with cytochrome c oxidase deficiency.
Patient series.
Tertiary care children's hospital in Arkansas.
A sibling pair and an unrelated patient referred for evaluation and found to have cytochrome c oxidase deficiency.
None.
MEASUREMENTS/MAIN RESULTS: Affected individuals had the characteristic presentation of psychomotor regression, growth deficiency, and lactic acidosis. The severity of the clinical course was found to correlate with the lactate-pyruvate ratio. Two of the infants had evidence, on magnetic resonance imaging, of subacute necrotizing encephalomyelopathy (Leigh disease). The most severely affected child had an unusual presentation of prenatal onset of structural anomalies including glabellar prominence, abnormal hair, loose skin, inguinal hernias, and hypospadias.
The presentation and clinical course of cytochrome c oxidase deficiency are highly variable and the diagnosis of cytochrome c oxidase deficiency should be considered in all patients with lactic acidosis or subacute necrotizing encephalomyelopathy. Particular consideration should be given to this diagnosis when lactic acidosis is found in a neonate with structural anomalies.
描述3例细胞色素c氧化酶缺乏症患者。
病例系列。
阿肯色州的三级护理儿童医院。
一对同胞兄妹及一名非亲属患者，因接受评估而被转诊，结果发现患有细胞色素c氧化酶缺乏症。
无。
测量指标/主要结果：受累个体具有精神运动发育倒退、生长发育迟缓及乳酸性酸中毒的典型表现。临床病程的严重程度与乳酸-丙酮酸比值相关。其中2例婴儿经磁共振成像检查显示有亚急性坏死性脑脊髓病（Leigh病）的证据。病情最严重的患儿有不寻常的表现，即产前出现结构异常，包括眉间突出、毛发异常、皮肤松弛、腹股沟疝及尿道下裂。
细胞色素c氧化酶缺乏症的表现及临床病程高度多变，所有患有乳酸性酸中毒或亚急性坏死性脑脊髓病的患者均应考虑细胞色素c氧化酶缺乏症的诊断。当在患有结构异常的新生儿中发现乳酸性酸中毒时，尤其应考虑这一诊断。
