Genetics of patella hypoplasia/agenesis.

The patella is a sesamoid bone, crucial for knee stability. When absent or hypoplastic, recurrent knee subluxations, patellofemoral dysfunction and early gonarthrosis may occur. Patella hypoplasia/agenesis may be isolated or observed in syndromic conditions, either as the main clinical feature (Nail-patella syndrome, small patella syndrome), as a clue feature which can help diagnosis assessment, or as a background feature that may be disregarded. Even in the latter, the identification of patella anomalies is important for an appropriate patient management. We review the clinical characteristics of these rare diseases, provide guidance to facilitate the diagnosis and discuss how the genes involved could affect patella development.

[Spinal infections: typical and atypical imaging features]. / Infections rachidiennes: aspects typiques et atypiques.

While the imaging features of established spondylodiscitis are well known, other presentations may be misleading. The purpose of this article is to review the typical imaging features of spondylodiscitis as well as some more atypical and unusual imaging features (early spondylodiscitis, sceptic spondylitis, septic arthritis of facet joints, primary epidural abscess, unusual germs, neonate).

[Value of imaging in posterolateral corner injuries of the knee]. / Apport de l'imagerie dans les lésions du point d'angle postéro-latéral du genou.

Lesions of the posterolateral corner are usually post-traumatic in etiology. They are most frequently associated with tear of the ACL and/or PCL. When unrecognized, they may lead to short-term failure of cruciate ligament reconstruction or long-term knee joint degeneration. Early detection of such lesions, especially in the preoperative period, is important since more severe injuries usually require dedicated early surgical management. The anatomy of the posterolateral corner will be reviewed and the normal and abnormal imaging features on MRI and US will be illustrated. The main clinical and surgcal features will also be presented.

[Plain radiographs of the wrist and hand]. / Les radiographies simples du poignet et de la main.

The purpose of this review is to describe the value of the different radiographic projections of the wrist and hand, provide criteria for quality control and key interpretation points. Plain radiographs of the hand and wrist are still, in this era of cross-sectional imaging, of great importance in the assessment and understanding of bone and joint disorders, particularly in the setting of trauma. Indeed postero-anterior and lateral views have to be completed with additional projections depending on the suspected lesion and clinical presentation.

Correlation between primary flat foot and lower extremity rotational misalignment in adults.

PURPOSE: The goal of this study was to identify rotational abnormalities of the lower limb in adult patients with primary symptomatic flatfoot. MATERIALS AND METHODS: From September 2009 to May 2012, 24 patients (12 women, 12 men; mean age: 40 years) were prospectively included in the study. Each patient underwent radiographs of the flat foot and weight-bearing upright EOS® examination. Three-dimensional reconstructions of the lower extremities were performed with derived measurements (length, hip and knee parameters, rotations). A total of 31 symptomatic primary flat feet (bilateral flat foot, n=7 patients; unilateral flat foot, n=17 patients) were studied and compared to 30 control subjects matched for age and gender. A comparison between the two groups was made with the Student t-test. RESULTS: No significant differences were found between patients and control subjects on the coronal and sagittal planes. Similarly, no significant differences were observed between the 2 groups for rotation of the lower limbs (femoral torsion, tibial torsion, tibiofemoral rotation). CONCLUSION: There are no rotational abnormalities of the lower extremities in adult patients with primary symptomatic flat foot.

[Tendons: inflammatory and degenerative pathology]. / Les tendons: lésions inflammatoires et dégénératives.

Tendons may be affected by a variety of pathologic conditions, including those caused by overuse and inflammatory diseases. Sonography is a very sensitive means of detecting tendonous pathology because of its spatial resolution and its comparative and dynamic capabilities. Moreover its wide availability makes it the preferred first-line imaging modality in these cases. This paper reviews the inflammatory and degenerative conditions that may involve the tendons and their sonographic appearances.

Botulinum toxin treatment of pes cavovarus in a child suffering from autosomal recessive axonal Charcot-Marie-Tooth neuropathy (AR-CMT2).

In a 12-year old girl suffering from autosomal recessive axonal Charcot-Marie-Tooth (CMT) neuropathy, pes cavovarus was treated with botulinum toxin injection in the tibialis posterior. The patient underwent a clinical evaluation, video analysis of spatiotemporal gait parameters and dynamic foot plantar pressure assessment before treatment and then two weeks, three months and six months thereafter. The video gait analysis revealed a decrease in varus during the swing phase of gait. The dynamic foot plantar pressure decreased by 50% in the excessive pressure at the side of the foot six months after the injection (maximal pressure=42.6N/cm2 before treatment and 18.9 N/cm2 after 6 month). Botulinum toxin injection appears to be an efficacious means of correcting pes cavovarus in CMT disease. A larger-scale clinical trial is now required to evaluate the putative longer-term preventive effect of this treatment on the pes cavus deformity.

Imaging features of lower limb malformations above the foot.

Lower limb malformations are generally isolated or sporadic events. However, they are sometimes associated with other anomalies of the bones and/or viscera in patients with constitutional syndromes or disorders of the skeleton. This paper reviews the main imaging features of these abnormalities, which generally exhibit a broad spectrum. This paper focuses on several different bone malformations: proximal focal femoral deficiency, congenital short femur and femoral duplication for the femur, tibial hemimelia (aplasia/hypoplasia of the tibia) and congenital bowing for the tibia, fibular hemimelia (aplasia/hypoplasia) for the fibula, and aplasia, hypoplasia and congenital dislocation for the patella.

The first European family with tibial muscular dystrophy outside the Finnish population.

We report the first European tibial muscular dystrophy (TMD) family outside the Finnish population. Clinical examination showed late onset distal leg myopathy similar to the description of TMD. A molecular genetic study was made owing to the very recent TMD linkage findings on chromosome 2q31. All five clinically affected patients segregated a specific haplotype for the locus, whereas two unaffected patients had different haplotype. The results of this family without Finnish ancestors show that TMD exists outside the Finnish population.

Comparison of double-contrast CT arthrography image quality with nonionic contrast agents: isotonic dimeric iodixanol 270 mg I/mL and monomeric iohexol 300 mg I/mL.

RATIONALE AND OBJECTIVES: The authors evaluated the image quality on delayed CT arthrography images with the use of the nonionic dimeric contrast agent, iodixanol 270 mg I/mL, compared with iohexol 300 mg I/mL. METHODS: A total of 132 patients with shoulder pain were included in a randomized, parallel, double-blind study. Sixty seven patients received iodixanol and 65 patients received iohexol. Patients underwent two CT-arthrography examinations: the first was performed 20 to 30 minutes after contrast injection and the second, 50 to 70 minutes after contrast injection. Data from 31 patients were excluded from the efficacy analysis. The overall quality of CT arthrography images was graded into four categories: excellent, good, moderate, and bad. RESULTS: The overall quality of delayed CT arthrography images was significantly better in the iodixanol group (P = 0.001, alpha = 0.05). On the first CT examination, image quality was good or excellent in 88% of the cases in the iodixanol group and in 96.1% in the iohexol group. The results on the delayed CT arthrography examination indicated that image quality was good or excellent in 88% of the cases when iodixanol was used and in 63.5% when iohexol was used. CONCLUSIONS: The overall quality of delayed images was significantly better with iodixanol than with iohexol.

Foramen magnum syndrome secondary to calcium pyrophosphate crystal deposition in the transverse ligament of the atlas.

STUDY DESIGN: This report illustrates two rare cases of foramen magnum syndrome caused by a retro-odontoid mass in which calcium pyrophosphate dihydrate crystals were found. OBJECTIVES: To analyze the preoperative studies and the diagnostic criteria and to discuss the surgical treatment. The present cases will be compared with previous ones described in the literature. SUMMARY OF BACKGROUND DATA: Deposition of calcium pyrophosphate dihydrate crystals occurs into the fibrous and hyaline cartilage of the joints and intervertebral discs of the spine. Half of the patients known to have a chondrocalcinosis had asymptomatic calcification in the odontoid region. Ten patients were published in the literature as having a spinal cord syndrome secondary to calcium pyrophosphate dihydrate deposition in the odontoid region. METHODS: In both cases the preoperative studies were analyzed, and the retro-odontoid mass was resected and histologically examined. Both had an anterior transoral approach and have been followed for 1 year. RESULTS: According to the preoperative radiographs the diagnosis was suspected and confirmed histologically. Transoral approach was done with no need in either case for a posterior stabilization. CONCLUSIONS: Compression of the spinal cord by calcium pyrophosphate dihydrate deposition may occur. The preoperative diagnosis may be highly suspected after radiographic study and histologically confirmed. Transoral resection is the treatment of choice. Posterior stabilization should be considered only in cases of craniovertebral instability.

Does high-resolution computed tomography image analysis of the distal radius provide information independent of bone mass?

This study aimed to investigate the usefulness of computed tomography (CT) image analysis of the distal radius for comparing two groups of postmenopausal women matched for age and bone mineral density at both the lumbar spine and femoral neck. The first one consisted of 16 women with at least one vertebral fracture and the second consisted also of 16 women without disease affecting bone mass or bone metabolism. Eight slices were selected in each patient: four consecutive coronal slices and four consecutive axial slices. Bone texture analysis was performed using structural methods leading to the measurement of 24 features. Most of the structural variables derived from histomorphometric parameters and were measured after segmentation from a binary or a skeletonized image. Nine variables were significantly different between the two groups on axial slices: valley number, valley surface area, apparent bone volume/tissue volume (BV/TV), apparent trabecular separation, apparent trabecular number, trabecular bone pattern factor, trabecular skeletal length, node count, and node-to-node strut count. Also four variables were significantly different between osteoporotic women and controls on coronal slices: apparent BV/TV, trabecular partition, node-to-node strut count, and terminus-to-terminus strut count. In conclusion this study suggests that bone texture analysis could yield additional data on bone mass for explaining bone strength and therefore could be used for improving the prediction of fracture risk.

In vivo comparison between computed tomography and magnetic resonance image analysis of the distal radius in the assessment of osteoporosis.

In a prospective case-control cross-sectional study, we investigated the usefulness of both computed tomography (CT) and magnetic resonance (MR) image analysis of the distal radius for distinguishing a small sample of fractured osteoporotic women from control women regardless of bone mineral density. The study population included 12 subjects who were divided into two groups according to their bone status. The first group consisted of six women with at least one vertebral fracture occurring in the absence of high-energy trauma, and the second group consisted of six women without disease affecting bone mass or bone metabolism. Cross-sectional and coronal slices were obtained from both CT and MR systems. For CT images, the slice thickness was 1000 jim and the plane resolution was approx 200 jim x 200 jim. MR images were obtained from a 1.5-T imager with a two-dimensional spin-echo Ti-weighted sequence leading to a slice thickness of 2000 jim and a plane resolution of 195 jim x 195 jim. Bone texture analysis was performed using fractal and structural methods leading to the measurement of 23 features. Most of the structural variables derived from histomorphometric parameters and were measured after segmentation from a binary or a skeletonized image. Bone densitometry was measured by dual-energy X-ray absorptiometry both at the lumbar spine and the nondominant femoral neck. On cross-sectional slices, 12 variables, mainly obtained from structural analysis, were significantly different between the two groups for CT images (p < 0.05) against two variables only for MR images (p < 0.05). The number of variables statistically different between the two groups was significantly higher for CT images compared with MR images (p = 0.003). In the same way, odds ratios for fracture per 1 control group standard deviation decrease were significant for 10 variables on CT images, whereas, in contrast, none of the variables measured on MRI images led to significant odds ratios. The results obtained for the two methods on coronal slices were poorer without a difference between either CT or MR images in terms of discrimination between fracture and nonfracture subjects. In conclusion, this study suggests that bone texture analysis obtained from CT compared with MRI offers a best discrimination between controls and osteoporotic patients, probably the result to the spatial resolution. which is better for CT than for MR images.

[Camptocormia: a sign of axial myopathy. Report of 7 cases]. / La camptocormie: un signe de myopathie axiale. A propos de sept observations.

PURPOSE: Camptocormia or progressive lumbar kyphosis is an anterior bend of the trunk. It appears in orthostatism or while walking and is reducible in the decubitus position. It concerns patients older than 60 years of age. It is due to a fatty degeneration of the paravertebral muscles, although the physiopathology remains unclear. METHODS: We report seven cases of camptocormia revealing authentic myopathies. RESULTS: Our observations concern five women and two men of 55 to 72 years of age. All patients present lumbar kyphosis and had a fatty involution of the paraspinal muscles on the muscular MRI. Four patients fulfilled the Bohan and Peter criteria of polymyositis and dermatomyositis. In the other cases paravertebral muscular biopsies led to the diagnosis of a congenital myopathy, a mitochondrial myopathy and an amyloid myopathy. Four patients received a corticosteroid-immunoglobulins or cyclosporin regimen. An improvement in the camptocormia was observed in three cases. In the other cases the treatment consisted of chemotherapy on account of severe nephrotic syndrome, a coenzyme-Q treatment for the patient with mitochondrial myopathy and only physiotherapy in the case of congenital myopathy, but without positive effect on camptocormia. CONCLUSION: Camptocormia appears as a muscular symptom that may reveal an axial myopathy due to multiple and varied pathologies. Thus, the discovery of camptocormia requires an aetiological investigation in order to propose an adequate treatment, which should be associated with physiotherapy.

[Imaging of synovial lesions, neoplastic or non-neoplastic]. / Imagerie des affections synoviales, tumorales ou non.

The purpose of this paper is to present the contribution of imaging in the assessment of synovial diseases, especially in the differentiation between infectious synovitis and rheumatoid arthritis, and in the diagnosis of tumoral and pseudotumoral synovial lesions (idiopathic (osteo)chondromatosis, pigmented villonodular synovitis, synovial hemangioma, lipoma arborescens...).

[Cortical septic osteitis: two cases]. / Ostéite corticale septique. A propos de deux observations.

Cortical septic osteitis is defined as a predominant or exclusive infection of the cortex which may lead to diagnosis pitfalls. With the two cases presented here, principal radiological features allowing a correct diagnosis are recalled.

[Value of US imaging of metacarpophalangeal joints in patients with early rheumatoid arthritis]. / Polyarthrite rhumatoïde débutante: apport de l'échographie des articulations métacarpophalangiennes.

Technological advances in the field of ultrasound imaging may have, especially in metacarpophalangeal joints, an impact on decision making in patients with early rheumatoid arthritis. First, the normal anatomy of the metacarpophalangeal joints is briefly reviewed. Then, the authors describe the main ultrasound imaging findings of early RA. The role of ultrasound imaging in the assessment of therapeutic response as well as the benefit of microbubble ultrasound contrast agents are considered.

[Malignant melanoma of soft tissues. Apropos of a case]. / Le mélanome malin des tissus mous. A propos d'une observation.

A case of malignant melanoma of the quadriceps tendon is reported. This is an uncommon soft tissue sarcoma of melanocytic origin. The appearance on MRI depends on its melanin content. The microscopic appearance is distinctive and prognosis is poor. This tumor should be kept in mind when a nodular lesion is detected in specific tendon or aponeurosis.

[Pseudo-winging of the scapula and snapping scapula secondary to solitary exostosis: two cases]. / Scapula alata statique et accrochage scapulaire secondaires à une exostose solitaire. A propos de 2 cas.

Pseudo-winging of the scapula and scapular snapping are two clinical signs of upper girdle insufficiency. The association of these two signs is highly suggestive, if not pathognomonic, of exostosis of the ventral aspect of the scapula. Resection of the exostosis is recommended to prevent pain and sarcomatous degeneration.