Akademik Veri Yönetim Sistemi
58th Annual Meeting of the ESPE , Vienna, Avusturya, 19 - 21 Eylül 2019, ss.378-379
P2-42
Stuve-Wiedemann syndrome: a case report without
osteorosis
Zerrin Orbak 1, Çiğdem Yüce Kahraman 2, Recep Orbak 3,
Ayşe Özden 1, Abdulgani Tatar 2
1Ataturk University Medical Faculty Department
of Pediatric
Endocrinology, Erzurum, Turkey. 2Ataturk
University Medical
Faculty Department of Genetics, Erzurum,
Turkey. 3Ataturk
University Dental Faculty Department of
Periodontology,
Erzurum, Turkey
Stuve-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
inhibitor 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.