STUVE-WIEDEMANN SYNDROME AND DEFECTS OF THE MITOCHONDRIAL RESPIRATORY-CHAIN

The Stuve-Wiedemann syndrome (SWS) comprises short stature, congenital bowing of the long bones, respiratory distress, and recurrent episode s of unexplained hyperthermia. The skeletal radiographic changes inclu de short and broad long bones, large metaphyses, internal cortical thi ckening, and angulation primarily of tibiae and femora, but also of hu meri and forearm bones. We report 3 cases of SWS from 2 different unre lated consanguineous gypsy families. All 3 cases fulfilled the clinica l and radiological criteria of SWS. Two patients died shortly after bi rth, whereas the third one was alive at the age of one year. Besides h yperthermic episodes, one patient had hyperaminoaciduria, hepatic fail ure, and megaloblastic anemia which prompted us to investigate mitocho ndrial respiratory chain in 2 cases. Abnormal results consisting of de creased activities of complex I and IV were found in both. The simulta neous occurrence of both SWS phenotype and abnormal mitochondrial meta bolism in two unrelated cases strongly supports the hypothesis of a pa thogenetic relationship between the two events. These cases may also b e related to recent reports on the effects of the mitochondrial respir atory chain defects on embryogenesis. (C) 1997 Wiley-Liss, Inc.