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Stuve-Wiedemann syndrome (SWS) is a multiple congenital anomalies syndrome mostly considered to have an early lethality. Only few patients have been reported with long survival; therefore, the clinical phenotype with age has not yet been clearly characterized. We report on two patients with SWS aged 12 and 3 years who have both the osteodysplastic symptoms of the entity as well as autonomic nervous system symptoms resembling familial dysautonomia: lack of corneal reflex and neuropathic keratitis, absence of fungiform papillae, ulcerations of the tongue, paradoxical sweating at low temperature, patellar hyporeflexia, and progressive scoliosis. The clinical and radiological similarities between patients with SWS and patients with Schwartz-Jampel syndrome have led to the suggestion that these two syndromes are a single entity. SWS and Schwartz-Jampel syndrome type II are now indeed considered to be identical, but the radiographic phenotype of SWS long survivors such as the presently reported patients justifies the distinction between SWS and the classical type of Schwartz-Jampel syndrome. An increased number of lipid droplets in muscle fibers and decreased muscle mitochondrial enzyme activities have been found in one patient, confirming a previously reported association between SWS and respiratory chain abnormalities.

Twenty-nine patients (mean age 12 years) with severe thoracolumbar and lumbar scoliosis due to myelomeningocele were treated by spinal fusion (7 by posterior arthrodesis with instrumentation, 3 by anterior arthrodesis with instrumentation, 19 by combined anterior and posterior fusion with instrumentation). Fusion was extended to the sacrum in 15 patients. Mean period of follow-up was 6.2 years. The average Cobb angle changes were as follows: thoracic and thoracolumbar curves preoperatively 86 degrees to 45 degrees at follow-up (the final average curve correction was 47%); lumbar curves preoperatively 97 degrees to 48 degrees at follow-up (the final average curve correction was 50%). Average pelvis obliquity changed from 26 degrees to 13 degrees at follow-up with an average correction of 49%. The combined anterior and posterior instrumentation and fusion gave the best correction of deformity (the final average thoracic and thoracolumbar curve correction was 55%; the final average lumbar curve correction was 61%). Independent of the method of stabilization, post-operative wound infection was a serious problem (24%). The combined fusion-instrumentation method reduced the rate of pseudoarthrosis to 14%.

In a multicentric study, 36 cases (40 curves) of severe scoliosis were analysed; 19 were idiopathic and 17 neurological, Cobb angles ranged from 70 degrees to 145 degrees, all had undergone three-rod Cotrel-Dubousset (CD) instrumentation. The correction on the frontal plane achieved more than 50% of the preoperative angle (53.9% for idiopathic curves and 55.6% for neurological ones). On the sagittal plane the pathological shape of the spine was reduced and distinctly ameliorated. In ten patients, the authors successfully applied a technique, alternative to the original one, which was based on the use of two or three screws in the lumbar area, one supplementary pedicle transverse claw on the cranial area and two rods connected by a domino, instead of a single rod (the longer one applied on the concave side). The main complications were: one case of infection, three of vascular compression of the duodenum, one of crank-shaft phenomenon and one laminar hook displacement. The excellent result achieved in both, idiopathic and neurological severe and stiff scoliosis shows the efficacy, reliability and versatility of CD three-rod instrumentation.

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