Yiş Uluç, Dirik Eray, Chambaz Cèline, Steinmann Beat, Giunta Cecilia
Division of Child Neurology, Dokuz Eylül University School of Medicine, Department of Pediatrics, 35340 Izmir, Turkey.
Neuromuscul Disord. 2008 Mar;18(3):210-4. doi: 10.1016/j.nmd.2007.11.006. Epub 2007 Dec 26.
The kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI) (OMIM 225400) is an inherited connective tissue disorder characterized by hypotonia and kyphoscoliosis at birth, joint hypermobility, and skin hyperelasticity and fragility. Biochemically, it is characterized by a deficiency of collagen lysyl hydroxylase (EC 1.14.11.4) due to mutations in PLOD1. This deficiency results in underhydroxylation of collagen lysyl residues and, hence, an abnormal pattern of lysyl pyridinoline (LP) and hydroxylysyl pyridinoline (HP) crosslinks excreted in the urine. Because of hypotonia and delay in gross motor development, a neuromuscular disease is usually suspected, and in most cases the diagnosis is considered only very late, after performing an invasive neuromuscular work-up with normal results. We report a 12-month-old boy with kyphoscoliosis and delayed gross motor development, in whom the differential diagnosis of kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI) was initially suspected and successively confirmed by the abnormal urinary ratio of total pyridinolines (LP to HP), and by mutation analysis. We advocate the analysis of urinary pyridinolines in all infants with severe hypotonia which is highly specific and sensitive, quick and inexpensive.
脊柱后侧凸型埃勒斯-当洛综合征（EDS VI）（OMIM 225400）是一种遗传性结缔组织疾病，其特征为出生时肌张力减退和脊柱后侧凸、关节活动过度、皮肤弹性过度和脆弱。在生化方面，其特征是由于PLOD1基因突变导致胶原赖氨酸羟化酶（EC 1.14.11.4）缺乏。这种缺乏导致胶原赖氨酸残基羟化不足，从而导致尿中排出的赖氨酰吡啶啉（LP）和羟赖氨酰吡啶啉（HP）交联模式异常。由于肌张力减退和粗大运动发育延迟，通常怀疑是神经肌肉疾病，在大多数情况下，只有在进行了结果正常的侵入性神经肌肉检查后，才很晚才考虑诊断。我们报告了一名12个月大患有脊柱后侧凸和粗大运动发育延迟的男孩，最初怀疑其为脊柱后侧凸型埃勒斯-当洛综合征（EDS VI）并通过尿中总吡啶啉（LP与HP）的异常比值以及突变分析相继得到证实。我们主张对所有患有严重肌张力减退的婴儿进行尿吡啶啉分析，该方法具有高度特异性和敏感性、快速且廉价。
