Kurian M A, Hartley L, Zolkipli Z, Little M A, Costigan D, Naughten E R, Olpin S, Muntoni F, King M D
Department of Paediatric Neurology, The Children's University Hospital, Dublin, Ireland.
Neuropediatrics. 2004 Oct;35(5):312-6. doi: 10.1055/s-2004-830371.
Two unusual cases of axonal neuropathy associated with short-chain acyl-CoA dehydrogenase (SCAD) deficiency are described. These two unrelated infants presented with profound generalised weakness, particularly affecting the upper limbs. Clinical examination revealed generalised peripheral hypotonia and weakness, with absent deep tendon reflexes. An axonal polyneuropathy was confirmed on electromyogram (EMG) and nerve conduction studies (NCS) and, following an extensive metabolic screen, an acylcarnitine and organic acid profile consistent with a short-chain fatty acid beta-oxidation defect was found. In both cases, SCAD deficiency was confirmed by enzyme analysis. Genetic analysis showed the presence of common gene variations in the SCAD gene. SCAD deficiency is a rare disorder with a wide clinical phenotype. SCAD deficiency associated with axonal neuropathy has not previously been reported. As highlighted in these cases, it may be necessary to include axonal neuropathy as a presenting feature of SCAD.
本文描述了两例与短链酰基辅酶A脱氢酶（SCAD）缺乏症相关的轴索性神经病的罕见病例。这两名无血缘关系的婴儿表现为严重的全身性肌无力，尤其影响上肢。临床检查发现全身性周围肌张力减退和肌无力，深部腱反射消失。肌电图（EMG）和神经传导研究（NCS）证实为轴索性多发性神经病，经过广泛的代谢筛查，发现酰基肉碱和有机酸谱与短链脂肪酸β氧化缺陷一致。在这两个病例中，酶分析均证实存在SCAD缺乏症。基因分析显示SCAD基因中存在常见的基因变异。SCAD缺乏症是一种罕见的疾病，具有广泛的临床表型。此前尚未报道过与轴索性神经病相关的SCAD缺乏症。正如这些病例所强调的，可能有必要将轴索性神经病列为SCAD的一种表现特征。
