[Gorham-stout disease]. / Morbus Gorham-Stout.

INTRODUCTION: Gorham-Stout disease is a rare entity characterised by a massive osteolysis and typically starts monocentrically in an isolated bone. Concerning the pathogenesis, haemangiomatosis and an overstimulation of osteoclasts are discussed which cause a progressive destruction of the affected skeleton and involve neighbouring soft tissue in the further progress of the disease. CASE REPORT: This report is about a 45-year-old male who suffered a traumatic insult. X-rays showed an osteolytic lesion in the 4th lumbar vertebra with depression in the ventral roof plate. Further radiological investigation has ruled out a malignant lesion and suggested Gorham-Stout disease as a diagnosis. Therapy has been carried out using bisphosphonates as well as fractioned radiation of the vertebra with 30 Gy under which a remission was achieved. DISCUSSION: The progress of our case correlates with published data in the literature. Spinal lesions are rare, but possible neurological complications or a possible chylothorax reflect the high mortality rate. We found no complications in our case. CONCLUSION: Despite massive osteolysis with resorption of up to a whole bone segment, radiation with a dose of 22.8 Gy and the use of antiresorptive substances, as reported in our case, have often been shown to limit the destructive progression of the disease. A causal therapy of the disease is not known yet.

Clinical outcome after transfixation of the epiphysis with Kirschner wires in unstable slipped capital femoral epiphysis.

Treatment of slipped capital femoral epiphysis (SCFE) is still controversial. Agreement has not yet been reached on the appropriate time to perform surgery, the necessity of repositioning manoeuvres, the type of implants for stabilisation, or the need for prophylactic treatment of the contralateral side. In this retrospective study, we present 29 patients with unstable (acute and acute-on-chronic) SCFE treated by internal fixation of the epiphysis with three or four Kirschner wires both therapeutically on the affected side and prophylactically on the not (yet) affected side. After hardware removal and mean follow-up of 3.5 years, radiological and clinical examination of hip function was carried out. X-ray in two planes showed no incidence of any slip progression. Applying the score used by Heyman and Herndon, 18 results (62.1%) were classified as excellent, nine (31.1%) as good, one (3.4%) as fair, and one (3.4%) as poor. The rate of severe complications such as chondrolysis and avascular necrosis of the femoral head was low in our series (0% and 6.8%, respectively). This form of therapeutic management shows good clinical results with low complication rates. The slip can be efficiently stabilised, progression is reliably prevented, and remodelling of the joint gives the patient good overall hip function. We see no indication for emergency surgery.

[Preoperative halo-traction in severe paralytic scoliosis]. / Die präoperative Halo-Extension bei hochgradiger Lähmungsskoliose.

AIM: During the past decades the treatment of severe paralytic scoliosis has developed towards surgical treatment. However there is controversial discussion about the need of pre-operative Halo-traction. The aim of this study was to built two groups of patients -- one group with and another one without pre-operative Halo-traction -- and to compare the results after surgical correction of scoliotic deformity with data from literature. METHOD: Between 2000-2003 twenty-five patients with severe neuromuscular spine deformity were treated surgically. Eight patients had preoperative Halo-traction, seventeen patients underwent directly operative correction and instrumentation. The evaluation included the pre- and postoperative X-rays as well those after Halo-traction before surgery. RESULTS: In the group without Halo-traction the scoliotic angle according to Cobb was reduced from 77 degrees to 33 degrees on average (mean correction of 44 degrees [57 %]). In the group with Halo-traction scoliosis was reduced from 85 degrees to 33 degrees on average (mean correction of 52 degrees [61 %]). CONCLUSION: The preoperative Halo-traction in patients with severe neuromuscular scoliosis indeed leads to radiologically higher correction, but this is not significant (p = 0.19) and only in single cases clinically relevant. In our point of view except from specific indications Halo-traction should not be applied in general as a standard procedure.

[Prospective screw misplacement analysis after conventional and navigated pedicle screw implantation]. / Prospektive Schraubenfehllagenanalyse nach konventioneller und navigierter Pedikelschraubenimplantation.

BACKGROUND: [corrected] The aim of this prospective study was (1) to evaluate the accuracy of pedicle screw placement using Computer - Assisted Orthopedic - Surgery (CAOS) in comparison to conventionelly image intensifier controlled pedicle screw instrumentation, (2) to compare our results with data from literature and (3) report our experiences with this technique. PATIENTS AND METHODS: Between 11/00 and 11/01 sixteen patients planned for spine surgery were subsequently recruited. Pedicle screw instrumentation was done in each patient as well with computer aided surgery (CAOS, SurgiGate-System, Medivision, Stratec Medical, Swiss) as also with image intensifier control, allowing for intraindividual comparison. Evaluation of pedicle screw placement was carried out with postoperative computed tomography (CT) or magnetic resonance imaging (MRI). RESULTS: 33 of altogether 36 pedicle screws inserted with Computer-Assistance (CAOS) were correctly placed (91,7%), however only 17 of altogether 24 pedicle screws inserted under image intensifier control (70,8%). The difference of frequency of screw misplacement between Computer-aided and image intensifier controlled instrumentation was statistically significant (p<0.05; chi-square test). CONCLUSION: Computer assisted surgery reduces significantly the misplacement rate of pedicle screws and remains for experienced spine surgeons an important support in the operative treatment of complex spinal deformities in future. Additionally it can be expected that Computer-Navigation will also spread out in the field of minimal-invasive spinal surgery, e.g. the kyphoplasty. The use of this technique supports beside the medical-technical knowledge an improved three-dimensional orientation in the education of spine surgeons.

[Interbody metal implants ("cages") for lumbar fusion]. / Interkorporelle Metallimplantate ("Cages") bei lumbalen Spondylodesen.

Over the last 15 years, interbody metal implants have become commonly used worldwide for lumbar interbody fusion. The so called "cages" are made of metal or absorbable materials. By using different surgical techniques, they can be implanted either regularly or via endoscopy. The published results on surgical techniques using cages for the lumbar spine show, in most cases and with or without additional instrumentation, rates of fusion of more than 90%. It seems that the use of osteoinductive substances (especially BMP) leads to even better results. Dorsoventral fusion with internal fixation and bone show the same rate of consolidation, but the advantages of cages are primarily in the maintenance of the distraction and the possibility of a single surgical procedure without additional instrumentation (including endoscopy), and in a lower donor side morbidity.

[Surgical therapy for spondylolysis and spondylolisthesis]. / Operative Therapie bei Spondylolyse und Spondylolisthese.

The therapy for spondylolysis and spondylolisthesis is challenging in view of the large variety of treatment options. A general, standardized therapeutic concept has still not been established. Adequate therapy depends on different parameters and personal experience. Beside direct repair surgery of spondylolysis and low grade spondylolisthesis, dorsal, ventral and combined dorsoventral surgery, with or without instrumentation, are indicated depending on patients age and severity of the slip. Complications such as pseudarthrosis and progression of the slip develop in a given percentage of cases, but these are not significantly correlated with clinical symptoms. Decompression is necessary in high grade slippage with neurologic impairment, especially paresis. Reposition is associated with a higher risk of neurologic complications. Fusion in situ without instrumentation, even in moderate and severe spondylolisthesis, shows good clinical results with high fusion rates and without the increased risk of progression and pseudarthrosis. In many cases, it is an effective, safe and economic therapeutic option.

[Occurrence of a segmental kyphosis after laminectomy of C2 for an aneurysmatic bone cysts--course and treatment strategy]. / Die Entwicklung einer segmentalen Kyphose nach Resektion des Wirbelbogens C2 bei aneurysmatischer Knochenzyste--Krankheitsverlauf und Behandlungsstrategien.

HISTORY: A 9-year-old girl suffered from an enlarging tumor in the lamina of the axis. After resection of the aneurysmatic bone cyst via laminectomy of C2 an anterior plate-fusion of C2/3 was done. Instead of a correctly placed ventral cervical plate, an adjacent instability of the level C3/4 with kyphosis and subluxation of the facet joints was seen at follow-up. COURSE OF TREATMENT: After reposition over a hypomochlion retention was achieved with a halo body-jacket. Two weeks later the level C3/4 was stabilized by posterior instrumentation. After almost two years the patient has no complaints and the radiological controls show correctly placed instrumentation and increasing bony fusion at the levels C2/3 and C3/4. CONCLUSION: Especially in children and adolescents laminectomy of a cervical vertebra often leads to kyphotic deformities. When using a posterior approach for surgery of intraspinal lesions or in case of tumors of the dorsal elements of the spine, the laminae and posterior structures should be preserved or, respectively, reconstructed for restoration of traction and tension mechanisms. This is of essential relevance for biomechanical stability and maintenance of the sagittal profile of the spine.

[Kyphoscoliosis in Wiedemann-Rautenstrauch-syndrome (neonatal progeroid syndrome)]. / Kyphoskoliose beim Wiedemann-Rautenstrauch-Syndrom (neonatales Progerie Syndrom).

AIM: 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. METHOD: 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. CONCLUSION: 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.

Magnetic resonance imaging after reduction for congenital dislocation of the hip.

BACKGROUND: Reliable concentric reduction of the femoral head and subsequent retention in a centred position are indispensable preconditions for the remodelling of the acetabulum in developmental dysplasia of the hip (DDH) and to prevent damage to the hip joint, i.e. avascular necrosis. The objective of this study is to evaluate the necessity of verifying the reduced position of the articulation in the plaster cast. METHOD: MRI was carried out in 15 infants with 21 unstable hip joints after reduction under arthrographic control and fixation in a plaster cast in the 'human' position with the hips flexed above 90 degrees and abducted to 50 degrees or 60 degrees. When the reduction was found to be inadequate-the hip still partially or completely dislocated-the plaster cast was removed, reduction repeated, a new cast applied, and MRI carried out again. RESULTS: After primary reduction, 1 of 21 hips was dislocated, and 2 showed unsatisfactory reduction. Three hip joints out of 21 (14.3%) were not fixed in the plaster cast in the optimal centred position. CONCLUSION: In view of the number of inadequate reductions in plaster casts, we recommend verifying the position of the hip joint by MRI. This MRI documentation should be established as a standard examination post-reduction.

[One- or two-step instrumentation for thoracolumbar scoliosis due to myelomeningocele?]. / Ein- oder zweizeitige Instrumentation hochgradiger lähmungsbedingter Skoliosen bei Spina bifida?

AIM: This investigation evaluates patients with MMC who underwent a two-stage anterior-posterior correction and stabilisation of thoracolumbar scoliosis due to myelomeningocele. The data were compared with the few reported series of one-stage versus two-stage surgery in the literature. METHOD: From 1.7.1992 to 30.6.1995, 11 consecutive patients with severe thoracolumbar scoliosis due to myelomenigocele were admitted at our hospital. The mean age at operation was 12 years nine months (range nine years nine to 14 years six months). All patients underwent a two-stage anterior and posterior spinal instrumentation. The patients were pre- and postoperatively evaluated. RESULTS: All patients were followed for a mean of 4 years 11 months (range 42 months to 88 months) from the time of the second stage procedure. Preoperatively the mean scoliosis angle was 82 degrees (range 55 degrees to 110 degrees ), this was reduced to a mean of 31 degrees (range 8 degrees - 70 degrees ), at final follow-up, the correction had deteriorated slightly to a mean of 35 degrees (range 12 degrees - 80 degrees ). No patient had increased neurological deficit or showed other major complications, i. e., infection, sepsis due to immunologic disorders at the time of the operation. CONCLUSION: We believe that with the two-stage anterior and posterior instrumentation an effective correction of the scoliosis can be achieved. Compared to other studies this report confirms the low morbidity rate and emphasise the good results of a two staged procedure.

Risk-benefit analysis of prophylactic pinning in slipped capital femoral epiphysis.

There is a broad and controversial discussion about the surgical procedure and the type of hardware for internal transfixation of the epiphysis and metaphysis in slipped capital femoral epiphysis (SCFE). Prophylactic pinning is even more controversial. One hundred and nine patients showing SCFE underwent a one-stage bilateral fixation of the epiphysis with three or four Kirschner wires (pins). From these 109 patients (69 male and 40 female), 94 had an unilateral slip and were operated prophylactically on the contralateral side. There were no complications such as avascular necrosis of the femoral head, chondrolysis, bone fracture, failure of metal implant, osteomyelitis or deep wound infection either at the time of surgery or at the minimum follow-up of 1 year with prophylactic pinning in SCFE. Therefore, we consider pinning allows for efficient stabilization, reliably preventing any progression of SCFE on the affected side and, furthermore, prevents the incidence of a secondary slip on the primarily nondisplaced contralateral side. The transfixation of epiphysis and metaphysis with Kirschner wires (pins) shows good subjective and objective long-term results compared with other surgical methods and implants. There is only a low morbidity rate with this method, because reoperations may only become necessary in the younger age group owing to normal growth of the femoral neck, compared with a high benefit from prophylactic surgical treatment of the nonaffected opposite side at the time of unilateral onset of the disease. The pins may no longer catch the epiphysis but further growth will allow for remodeling of the femoral head and for an optimal neck/shaft ratio. In case of further growth and relative shortening of the pins, refixation may become necessary. Therefore, we like to recommend the Kirschner-wire transfixation (pinning) of the epiphysis and metaphysis in patients with SCFE for primary treatment of SCFE as well as for prophylactic pinning of the contralateral side in one sitting.

Correction of length discrepancies and angular deformities of the leg by Blount's epiphyseal stapling.

UNLABELLED: The management of leg length difference (LLD) and angular deformities of the leg remains controversial. Numerous treatment options have been proposed over the past years depending on the patient's general condition, skeletal age, function, and degree and configuration of the deformity. Our retrospective study consisted of 48 patients with 58 legs treated between 1970 and 1991 by Blount's epiphyseal stapling to equalise length or correct angular deformity. After an average follow-up of 16.5 years, all patients with idiopathic bow-legs or knock-knees (n=12) and 71% of LLD caused by overgrowth (e.g. Klippel-Trenaunay syndrome) showed good and excellent results at skeletal maturity, whereas the results of the treatment of LLD with undergrowth of the leg and angular deformities due to trauma, infection or general dysplasia and malformation were fair to poor because of the difficulty in prediction of growth development and growth potential, allowing only for partial correction of the deformity. Besides the restriction of the stapling procedure due to the aetiology of the deformity, the age of the patients at the time of surgery is important, as it determines the complication rate of this technique (loosening or dislocation of staples). Thus Blount's epiphyseodesis should not be performed before the age of 9 years in girls and 11 years in boys. CONCLUSION: Blount's epiphyseal stapling can be recommended as a safe procedure with predictably good results in idiopathic angular deformities of the leg and leg length difference caused by overgrowth.

Mitochondrial myopathy with tRNA(Leu(UUR)) mutation and complex I deficiency responsive to riboflavin.

Deficiency of complex I (reduced nicotinamide adenine dinucleotide dehydrogenase-ubiquinone oxidoreductase) of the mitochondrial respiratory chain may be seen as a pure myopathy or as a neuromuscular disorder at presentation. Efficacy of long- term therapy for these disorders is yet to be established. We report the case of a female patient with complex I deficiency and skeletal myopathy, who has had a sustained clinical response to riboflavin during 3 years of therapy. Molecular studies found no mutations in the putative flavin mononucleotide binding site in the 51 kd subunit of complex I, but a T-to-C transition at nucleotide 3250 in the mitochondrial DNA tRNA(Leu(UUR)) gene was identified. This mutation has been reported in one other family in that five members had fatigue with or without muscle weakness. There were also five cases of unexplained infant deaths in that family and two cases in the family reported here. Riboflavin therapy should be attempted in all patients with complex I deficiency when the clinical presentation is one of isolated skeletal myopathy.

In vivo disposal of phenylalanine in phenylketonuria: a study of two siblings.

Mutation at the phenylalanine hydroxylase (PAH) locus is a cause of hyperphenylalaninaemia. Genotype-phenotype correlation relative to the predicted PAH activity may differ at the metabolite level and at the IQ level in untreated phenylketonuria. Discordant metabolic phenotypes have been noted in siblings; influences on transport and metabolism of phenylalanine determining homeostasis may account for differing metabolic phenotypes. We report two siblings of different sex and identical genotype at the PAH locus who demonstrate a difference in phenylalanine disposal. A stable isotope infusion of [2H5]phenylalanine was used to measure protein turnover, phenylalanine hydroxylation and excretion of phenylalanine transamination metabolites. The siblings were observed to have identical hydroxylation rates under the experimental conditions of the study while manifesting differences in renal excretion rates of phenylalanine transamination metabolites and protein accretion.