[Kyphoscoliosis in Wiedemann-Rautenstrauch-syndrome (neonatal progeroid syndrome)].
OBJECTIVE
The Wiedemann-Rautenstrauch syndrome (neonatal progeroid syndrome, WR syndrome) is a rare autosomal recessive disorder including premature aging already at birth. Most of the patients show an aged face, a craniofacial dysmorphism, decreased subcutaneous fat tissue, a significant developmental delay, and have a short life expectation. We present the second patient described in literature reaching an age of 16 years. Furthermore this patient developed a progressive scoliosis during childhood which to our knowledge has not been reported before among individuals affected by Wiedemann-Rautenstrauch syndrome. The pathogenetic features of the spinal deformity are discussed and the operative management is described.


METHODS
The patient underwent a three-stage correction of her spinal deformity (anterior thoracic and lumbar release and posterior release, correction of the deformity with instrumentation and fusion) supported by Halo traction and physiotherapy.


RESULTS
At the latest follow-up 12 months postoperatively the patient showed a stable correction from 78 degrees to 38 degrees in the frontal plane with physiologic sagittal alignment both clinically and radiologically.


CONCLUSIONS
The scoliosis of our patient with Wiedemann-Rautenstrauch syndrome showed radiologically and clinically the characteristics of a neuromuscular curve. Since the curve showed a significant progression and high rigidity operative correction and fusion was indicated. We recommend a staged operative management to minimize the high risks of the operations and possible complications from cardiological and respiratory dysfunction associated with WR syndrome.
Thorey
F
F
Orthopädische Universitätsklinik Düsseldorf.
Jäger
M
M
Seller
K
K
Krauspe
R
R
Wild
A
A
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D005260:Female; D005500:Follow-Up Studies; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007738:Kyphosis / Q000000981:diagnostic imaging / Q000235:genetics / Q000601:surgery*; D008159:Lumbar Vertebrae / Q000000981:diagnostic imaging / Q000601:surgery; D011183:Postoperative Complications / Q000000981:diagnostic imaging; D011371:Progeria / Q000000981:diagnostic imaging / Q000235:genetics / Q000601:surgery*; D011859:Radiography; D012600:Scoliosis / Q000000981:diagnostic imaging / Q000235:genetics / Q000601:surgery*; D013123:Spinal Fusion; D013577:Syndrome; D013904:Thoracic Vertebrae / Q000000981:diagnostic imaging / Q000601:surgery