Kurian M A, O'Mahoney E S, Rustin P, Brown G, Treacy E P, King M D
Department of Paediatric Neurology, The Children's University Hospital, Temple Street, Dublin, Ireland.
Eur J Paediatr Neurol. 2004;8(1):55-9. doi: 10.1016/j.ejpn.2003.10.006.
An eight-week-old infant, the fourth child of consanguineous parents presented with intractable neonatal seizures. The mother had two previous miscarriages. The infant initially presented on day one with multifocal myoclonus, complex partial and generalised tonic-clonic seizures. On examination, there were dysmorphic hands and feet, with absent nails and terminal phalanges of the fingers and toes, hepatomegaly, marked axial and peripheral hypotonia and severe global developmental delay. Ophthalmological assessment showed 'salt and pepper' pigmentary retinopathy. The urinary organic acid profile revealed a marked increase in tricarboxylic acid metabolites. Urinary phosphate reabsorption was reduced at 84%. Type I fibre atrophy was seen on muscle histology, and a cytochrome c oxidase deficiency was found only on enzymology of liver tissue. Limb malformations associated with respiratory chain defects have rarely been reported. To our knowledge, this child has the most severe limb anomaly associated with a tissue-specific complex IV respiratory chain defect.
一名8周大的婴儿，是近亲结婚父母的第四个孩子，出现难治性新生儿惊厥。母亲之前有过两次流产。婴儿最初在出生第一天就出现多灶性肌阵挛、复杂部分性和全身性强直阵挛性惊厥。检查发现手足畸形，指甲和手指及脚趾的末节指骨缺失，肝肿大，明显的轴向和外周肌张力减退以及严重的全面发育迟缓。眼科评估显示“椒盐”样色素性视网膜病变。尿有机酸谱显示三羧酸代谢产物显著增加。尿磷重吸收降低至84%。肌肉组织学检查可见I型纤维萎缩，仅在肝组织酶学检查中发现细胞色素c氧化酶缺乏。与呼吸链缺陷相关的肢体畸形很少有报道。据我们所知，这个孩子患有与组织特异性复合体IV呼吸链缺陷相关的最严重的肢体异常。
