Chabrol B, Sigaudy S, Paquis V, Montfort M F, Giudicelli H, Pellissier J F, Millet V, Mancini J, Philip N
Department of Neuropediatrics, Timone Hospital, Marseille, France.
Am J Med Genet. 1997 Oct 17;72(2):222-6. doi: 10.1002/(sici)1096-8628(19971017)72:2<222::aid-ajmg18>3.0.co;2-p.
The Stüve-Wiedemann syndrome (SWS) comprises short stature, congenital bowing of the long bones, respiratory distress, and recurrent episodes of unexplained hyperthermia. The skeletal radiographic changes include short and broad long bones, large metaphyses, internal cortical thickening, and angulation primarily of tibiae and femora, but also of humeri and forearm bones. We report 3 cases of SWS from 2 different unrelated consanguineous gypsy families. All 3 cases fulfilled the clinical and radiological criteria of SWS. Two patients died shortly after birth, whereas the third one was alive at the age of one year. Besides hyperthermic episodes, one patient had hyperaminoaciduria, hepatic failure, and megaloblastic anemia which prompted us to investigate mitochondrial respiratory chain in 2 cases. Abnormal results consisting of decreased activities of complex I and IV were found in both. The simultaneous occurrence of both SWS phenotype and abnormal mitochondrial metabolism in two unrelated cases strongly supports the hypothesis of a pathogenetic relationship between the two events. These cases may also be related to recent reports on the effects of the mitochondrial respiratory chain defects on embryogenesis.
施图韦-维德曼综合征（SWS）的特征包括身材矮小、长骨先天性弯曲、呼吸窘迫以及不明原因的反复高热发作。骨骼X线改变包括长骨短而宽、干骺端大、内皮质增厚，主要是胫骨和股骨成角，肱骨和前臂骨也有类似改变。我们报告了来自2个不同的非近亲吉普赛家族的3例SWS病例。所有3例均符合SWS的临床和影像学标准。2例患者出生后不久死亡，而第3例在1岁时仍存活。除高热发作外，1例患者有高氨基酸尿症、肝功能衰竭和巨幼细胞贫血，这促使我们对2例患者进行线粒体呼吸链研究。2例均发现异常结果，即复合体I和IV活性降低。在2例不相关病例中同时出现SWS表型和异常线粒体代谢，有力地支持了这两个事件之间存在致病关系的假说。这些病例也可能与最近关于线粒体呼吸链缺陷对胚胎发生影响的报道有关。
