Stüve-Wiedemann syndrome (SWS) is an autosomal recessive disorder characterized by bowing of the long bones and other skeletal anomalies, neuromuscular abnormalities, dysautonomic symptoms, and respiratory and feeding distress usually resulting in early death.
We report a girl, aged 6 years, with SWS. We measured bone mineral density in the lumbar spine, using dual-energy x-ray absorptiometry (DXA) with a densitometer (Hologic). The result is expressed as z scores (the number of standard deviations from the mean value for persons in the general population matched for age, sex, and race). It was higher than + 2.
Molecular diagnosis was a homozygous mutation in exon 7 of leukemia inhibitör factor receptor (LIFR) gene located on 5p13-p12 (c.2074C>T (p.Arg692*)(p.R692*)). Her parents were heterozygous for this mutation.
Survival beyond the first 3 years in SWS has been reported limitedly. Our patient is still alive at the age of 6 years. As far as we know, this is the first case of SWS with spontaneous fractures without osteoporosis.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology