Bertolotti’s syndrome is characterised by anomalous enlargement of the transverse process(es) of the most caudal lumbar vertebra which may articulate or fuse with the sacrum or ilium and cause isolated L4/5 disc disease. We analysed the elective MR scans of the lumbosacral spine of 769 consecutive patients with low back pain taken between July 2003 and November 2004. Of these 568 showed disc degeneration. Bertolotti’s syndrome was present in 35 patients with a mean age of 32.7 years (15 to 60). This was a younger age than that of patients with multiple disc degeneration, single-level disease and isolated disc degeneration at the L4/5 level (p ≤ 0.05). The overall incidence of Bertolotti’s syndrome in our study was 4.6% (35 of 769). It was present in 11.4% (20 patients) of the under-30 age group. Our findings suggest that Bertolotti’s syndrome must form part of a list of differential diagnoses in the investigation of low back pain in young people

Aims. Some patients presenting with hip pain and instability and underlying acetabular dysplasia (AD) do not experience resolution of symptoms after surgical management. Hip-spine syndrome is a possible underlying cause. We hypothesized that there is a higher frequency of radiological spine anomalies in patients with AD. We also assessed the relationship between radiological severity of AD and frequency of spine anomalies. Methods. In a retrospective analysis of registry data, 122 hips in 122 patients who presented with hip pain and and a final diagnosis of AD were studied. Two observers analyzed hip and spine variables using standard radiographs to assess AD. The frequency of lumbosacral transitional vertebra (LSTV), along with associated Castellvi grade, pars interarticularis defect, and spinal morphological measurements were recorded and correlated with radiological severity of AD. Results. Out of 122 patients, 110 (90.2%) were female and 12 (9.8%) were male. We analyzed the radiographs of 122 hips (59 (48.4%) symptomatic left hips, and 63 (51.6%) symptomatic right hips). Average age at time of presentation was 34.2 years (SD 11.2). Frequency of LSTV was high (39% to 43%), compared to historic records from the general population, with Castellvi type 3b being the most common (60% to 63%). Patients with AD have increased L4 and L5 interpedicular distance compared to published values. Frequency of pars interarticularis defect was 4%. Intraclass correlation coefficient for hip and spine variables assessed ranged from good (0.60 to 0.75) to excellent (0.75 to 1.00). Severity of AD did not demonstrate significant correlation with frequency of radiological spine anomalies. Conclusion. Patients with AD have increased frequency of spinal anomalies seen on standard hip radiographs. However, there exists no correlation between radiological severity of AD and frequency of spine anomalies. In managing AD patients, clinicians should also assess spinal anomalies that are easily found on standard hip radiographs. Cite this article: Bone Joint J 2021;103-B(8):1351–1357

We present two rare variations related to compartment syndrome. The first is a 69-year-old hypertensive man with compartment syndrome of the arm. The second is a 58-year-old man with compartment syndrome of the forearm with severe compensatory hypertension

Dysplasia of the hip, hypotonia, osteopenia, ligamentous laxity, and mental retardation increase the complexity of performing and managing patients with Down syndrome who require total hip replacement (THR). We identified 14 patients (six males, eight females, 21 hips) with Down syndrome and degenerative disease of the hip who underwent THR, with a minimum follow-up of two years from 1969 to 2009. In seven patients, bilateral THRs were performed while the rest had unilateral THRs. The mean clinical follow-up was 5.8 years (standard deviation (. sd. ) 4.7; 2 to 17). The mean Harris hip score was 37.9 points (. sd. 7.8) pre-operatively and increased to 89.2 (. sd. 12.3) at final follow-up (p = 1x10. -9. ). No patient suffered a post-operative dislocation. In three patients, four hips had revision THR for aseptic loosening at a mean follow-up of 7.7 years (. sd. 6.3; 3 to 17). This rate of revision THR was higher than expected. Our patients with Down syndrome benefitted clinically from THR at mid-term follow-up. Cite this article: Bone Joint J 2014;96-B:1455–8

Linburg-Comstock syndrome is characterised by an anomalous tendon slip from the flexor pollicis longus to the flexor digitorum profundus, usually of the index finger. An incidence as high as 60% to 70% has been reported. Post-traumatic inflammation of inter-tendinous connections between the flexor pollicis longus and flexor digitorum profundus, usually of the index finger, may cause unexplained chronic pain in the distal forearm. A total of 11 patients (eight females, three males), mean age 29.1 years (14 to 47) with a clinical diagnosis of Linburg-Comstock syndrome underwent surgical release of the inter-tendinous connection. The mean follow-up was for 27 months (2 to 48). Ten patients reported excellent relief of pain in the forearm, with independent flexion of flexor pollicis longus and flexor digitorum profundus to the index finger. Surgical release was an effective treatment for the Linburg-Comstock syndrome in this series

We describe a case of bilateral weakness of the lower limbs, sensory disturbance and intermittent urinary incontinence, secondary to untreated Gitelman’s syndrome, in a 42-year-old female who was referred with presumed cauda equina syndrome. On examination, the power of both legs was uniformly reduced, and the perianal and lower-limb sensation was altered. However, MRI of the lumbar spine was normal. Measurements of serum and urinary potassium were low and blood gas analysis revealed metabolic alkalosis. Her symptoms resolved following potassium replacement. We emphasise the importance of measurement of the plasma and urinary levels of electrolytes in the investigation of patients with paralysis of the lower limbs and suggest that they, together with blood gas analysis, allow the exclusion of unusual causes of muscle weakness resulting from metabolic disorders such as metabolic alkalosis

Patients with Bertolotti’s syndrome have characteristic lumbosacral anomalies and often have severe sciatica. We describe a patient with this syndrome in whom standard decompression of the affected nerve root failed, but endoscopic lumbosacral extraforaminal decompression relieved the symptoms. We suggest that the intractable sciatica in this syndrome could arise from impingement of the nerve root extraforaminally by compression caused by the enlarged transverse process

Aims. Patients with metabolic syndrome (MetS) are known to be at increased risk of postoperative complications, but it is unclear whether MetS is also associated with complications after total hip arthroplasty (THA) or total knee arthroplasty (TKA). Here, we perform a systematic review and meta-analysis linking MetS to postoperative complications in THA and TKA. Methods. The PubMed, OVID, and ScienceDirect databases were comprehensively searched and studies were selected and analyzed according to the guidelines of the Meta-analysis of Observational Studies in Epidemiology (MOOSE). We assessed the methodological quality of each study using the Newcastle-Ottawa Scale (NOS), and we evaluated the quality of evidence using the Grading of Recommendations Assessment, Development, and Evaluation (GRADE). Data were extracted and meta-analyzed or qualitatively synthesized for several outcomes. Results. Ten cohort studies involving 1,352,685 patients were included. Qualitative analysis suggested that MetS was associated with a higher incidence of cardiovascular events, and meta-analysis showed that MetS increased the risk of all-cause complications (risk ratio (RR) 1.55, 95% confidence interval (CI) 1.28 to 1.89), surgical site infection (SSI; RR 2.99, 95% CI 1.30 to 6.90), urinary tract infection (UTI; RR 2.58, 95% CI 1.03 to 6.43), and 30-day readmission (RR 1.45, 95% CI 1.33 to 1.59). There was insufficient evidence for assessing an association between MetS and venous thromboembolism events, pulmonary or gastrointestinal complications, or mortality. Conclusion. Patients with MetS undergoing THA and TKA are at increased risk of all-cause complications, cardiovascular complications, SSI, UTI, and 30-day readmission. Surgeons should be aware of the increased risk of these complications in MetS, and presurgical protocols for these complications should give special consideration to MetS patients. Cite this article:Bone Joint Res. 2020;9(3):120–129

1. A distinction must be made between the fat embolism syndrome, a clinical entity, and fat embolism demonstrated pathologically, which may be found after death following fracture with no prior evidence of the syndrome. 2. One hundred cases of the syndrome encountered over a period of four years have been studied in detail and the diagnostic criteria have been defined. These include one major feature, four minor features and fat macroglobulaemia. 3. Sixteen of the patients died–eight from severe pulmonary insufficiency of the syndrome, eight from other traumatic causes. 4. The prevention of shock is the best measure for prevention of the syndrome. The role of proteases in the production of shock and the place of protease inhibition in treatment of the syndrome are briefly discussed. 5. For the established case the aim of treatment is to ensure an adequate pressure of arterial oxygen

Aim. Nail patella syndrome (NPS) is a skeletal dysplasia with patellofemoral dysfunction as a key symptom. We present the first in-depth radiological evaluation of the knee in a large series of NPS patients and describe the typical malformations. Patients and Methods. Conventional radiological examination of 95 skeletally mature patients with NPS was performed. Patellar morphology was classified according to the Wiberg classification as modified by Baumgartl and Ficat criteria, and trochlear shape was classified according to the Dejour classification. Results. Patellar aplasia was present in 4/90 (4%), and patellar hypoplasia in 77/90 (86%) of patients. The prevailing patellar shapes were type III, type IV and Hunter’s cap. No patellar shape genotype-phenotype association could be found. The malformations of the distal femur comprised shortening of the lateral femoral condyle in 46 out of 84 patients (55%), with a prominent anterior surface of the lateral femoral condyle in 47 out of 84 patients (56%) and a flat anterior surface of the medial femoral condyle in 78 out of 85 patients (92%). The trochlea was type A1 according to the Dejour classification in 79 out of 85 patients (93%). . Conclusion. An easily recognisable characteristic quartet of malformations consisting of patellar aplasiaor hypoplasia and the malformations of the distal femur was found in 22 out of 81 patients (27%), with the majority displaying at least three malformations. Take home message: The distinct malformations of the knee in nail patella syndrome are easily recognisable on conventional radiographs and lead to the correct interpretation of the aberrant morphology which is essential in the treatment of these patellofemoral disorders. Cite this article: Bone Joint J 2016;98-B:483–9

We report a case of Lemierre’s syndrome complicated by an epidural abscess. This manifestation of Lemierre’s syndrome has not been described previously

Down’s syndrome is associated with a number of musculoskeletal abnormalities, some of which predispose patients to early symptomatic arthritis of the hip. The purpose of the present study was to review the general and hip-specific factors potentially compromising total hip replacement (THR) in patients with Down’s syndrome, as well as to summarise both the surgical techniques that may anticipate the potential adverse impact of these factors and the clinical results reported to date. A search of the literature was performed, and the findings further informed by the authors’ clinical experience, as well as that of the hip replacement in Down Syndrome study group. The general factors identified include a high incidence of ligamentous laxity, as well as associated muscle hypotonia and gait abnormalities. Hip-specific factors include: a high incidence of hip dysplasia, as well as a number of other acetabular, femoral and combined femoroacetabular anatomical variations. Four studies encompassing 42 hips, which reported the clinical outcomes of THR in patients with Down’s syndrome, were identified. All patients were successfully treated with standard acetabular and femoral components. The use of supplementary acetabular screw fixation to enhance component stability was frequently reported. The use of constrained liners to treat intra-operative instability occurred in eight hips. Survival rates of between 81% and 100% at a mean follow-up of 105 months (6 to 292) are encouraging. Overall, while THR in patients with Down’s syndrome does present some unique challenges, the overall clinical results are good, providing these patients with reliable pain relief and good function. Cite this article: Bone Joint J 2013;95-B, Supple A:41–5

There are many causes of paraspinal muscle weakness which give rise to the dropped-head syndrome. In the upper cervical spine the central portion of the spinal cord innervates the cervical paraspinal muscles. Dropped-head syndrome resulting from injury to the central spinal cord at this level has not previously been described. We report two patients who were treated acutely for this condition. Both presented with weakness in the upper limbs and paraspinal cervical musculature after a fracture of C2. Despite improvement in the strength of the upper limbs, the paraspinal muscle weakness persisted in both patients. One ultimately underwent cervicothoracic fusion to treat her dropped-head syndrome. While the cause of the dropped-head syndrome cannot be definitively ascribed to the injuries to the spinal cord, this pattern is consistent with the known patho-anatomical mechanisms of both injury to the central spinal cord and dropped-head syndrome

Injury to the perforating branch of the peroneal artery has not been reported previously as a cause of acute compartment syndrome following soft-tissue injury to the ankle. We describe the case of a 23-year-old male who sustained such an injury resulting in an acute compartment syndrome. In a review of the literature, we could find only five previous cases, all of which gave rise to a false aneurysm which was detected after the acute event

We have analysed associated factors in 164 patients with acute compartment syndrome whom we treated over an eight-year period. In 69% there was an associated fracture, about half of which were of the tibial shaft. Most patients were men, usually under 35 years of age. Acute compartment syndrome of the forearm, with associated fracture of the distal end of the radius, was again seen most commonly in young men. Injury to soft tissues, without fracture, was the second most common cause of the syndrome and one-tenth of the patients had a bleeding disorder or were taking anticoagulant drugs. We found that young patients, especially men, were at risk of acute compartment syndrome after injury. When treating such injured patients, the diagnosis should be made early, utilising measurements of tissue pressure

1. Skeletal and other clinical features in twenty-three patients with homocystinuria have been compared with those in sixteen patients with Marfan's syndrome. 2. The two diseases are clinically similar but florid arachnodactyly and scoliosis are commoner in Marfan's syndrome, whereas widening of epiphyses and metaphyses of long bones is a distinctive feature of homocystinuria. 3. Patients with homocystinuria frequently have osteoporosis at a young age with a high incidence of vertebral involvement including biconcavity and flattening. Patients with Marfan's syndrome do not have osteoporosis and may have excessively tall vertebrae. 4. Mental retardation and thrombosis are common in homocystinuria and uncommon in Marfan's syndrome. 5. Homocystinuria is most probably inherited as an autosomal recessive and Marfan's syndrome as an autosomal dominant. 6. The two diseases should be differentiated because of the thrombotic risk in homocystinuria, and also because in this disease there is a possibility of treating the biochemical defect. 7. Although patients with homocystinuria may present to the orthopaedic surgeon with osteoporosis, severe genu valgum or scoliosis, the disease is an uncommon cause of these defects

The patellar clunk syndrome describes painful catching, grinding or jumping of the patella when the knee moves from a flexed to an extended position after total knee replacement (TKR). The posterior stabilised TKR had been noted to have a higher incidence of this problem. Mobile-bearing posteriorly stabilised TKRs have been introduced to improve patellar tracking and related problems by a mechanism of self-alignment. We evaluated the patellar clunk syndrome in 113 knees in 93 patients with such a TKR at a mean follow-up of 2.3 years (2.0 to 3.2). The syndrome was identified in 15 knees (13.3%). Logistic regression analysis showed that the absolute value of the post-operative angle of patellar tilt was significantly associated with the occurrence of patellar clunk (p = 0.025). Patellar tracking should be carefully checked during surgery

Aims. Early cases of cauda equina syndrome (CES) often present with nonspecific symptoms and signs, and it is recommended that patients undergo emergency MRI regardless of the time since presentation. This creates substantial pressure on resources, with many scans performed to rule out cauda equina rather than confirm it. We propose that compression of the cauda equina should be apparent with a limited sequence (LS) scan that takes significantly less time to perform. Methods. In all, 188 patients with suspected CES underwent a LS lumbosacral MRI between the beginning of September 2017 and the end of July 2018. These images were read by a consultant musculoskeletal radiologist. All images took place on a 3T or 1.5T MRI scanner at Stoke Mandeville Hospital, Aylesbury, UK, and Royal Berkshire Hospital, Reading, UK. Results. The 188 patients, all under the age of 55 years, underwent 196 LS lumbosacral MRI scans for suspected CES. Of these patients, 14 had cauda equina compression and underwent emergency decompression. No cases of CES were missed. Patients spent a mean 9.9 minutes (8 to 10) in the MRI scanner. Conclusion. Our results suggest that a LS lumbosacral MRI could be used to diagnose CES safely in patients under the age of 55 years, but that further research is needed to assess safety and efficacy of this technique before changes to existing protocols can be recommended. In addition, work is needed to assess if LS MRIs can be used throughout the spine and if alternative pathology is being considered. Cite this article: Bone Joint J 2020;102-B(4):501–505

We report four patients with a form of Ehlers-Danlos syndrome associated with soft-tissue contractures from birth and skin hyperalgesia. In early infancy, these cases were thought to be forms of arthrogryposis multiplex congenita, Larsen's syndrome or Marfan's syndrome. The characteristic triad of signs of Ehlers-Danlos disease gradually appeared from four to six years of age, allowing us to establish the correct diagnosis. We discuss the differential diagnosis of these connective-tissue disorders and the problems of the orthopaedic treatment of the associated joint deformities. Ehlers-Danlos syndrome is a heterogeneous group of metabolic diseases of collagen and our cases constitute a group which is distinct from the conventional types

Spinal deformities are a common feature of Marfan’s syndrome and can be a significant cause of morbidity. The morphology of the scoliosis associated with this condition was previously described by Sponseller, but no correlation with the pelvic parameters has been seen. We performed a retrospective radiological study of 58 patients with scoliosis, secondary to Marfan’s syndrome and related the findings in the thoracolumbar spine to the pelvic parameters, including pelvic version (tilt), pelvic incidence and sacral slope. Our results showed marked abnormalities in the pelvic values compared with those found in the unaffected population, with increased retroversion of the pelvis in particular. In addition we found a close correlation between the different patterns of pelvic parameters and scoliosis morphology. We found that pelvic abnormalities may partially dictate the spinal disorders seen in Marfan’s syndrome. Our results supplement the well-established Sponseller classification, as well as stressing the importance of considering the orientation of the pelvis when planning surgery