Legg-Calve-Perthes' disease: an opportunity to prevent blindness?

Legg-Calve-Perthes' disease (LCP) is defined as avascular necrosis of the femoral head in a child and may present to a variety of disciplines from general practice to orthopaedics, paediatrics, rheumatology and more. The Stickler syndromes are a group of disorders of type II, IX and XI collagen associated with hip dysplasia, retinal detachment, deafness and cleft palate. The pathogenesis of LCP disease remains an enigma but there have been a small number of cases reporting variants in the gene encoding the α1 chain of type II collagen (COL2A1).

Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome-Expanding the phenotype.

Stickler syndrome (SS) is characterized by ophthalmic, articular, orofacial, and auditory manifestations. SS is usually autosomal dominantly inherited with variants in COL2A1 or COL11A1. Recessive forms are rare but have been described with homozygous variants in COL9A1, COL9A2, and COL9A3 and compound heterozygous COL11A1 variants.

Stickler syndrome in children: a radiological review.

Aim: To review the radiological findings of the largest cohort to date of paediatric patients with Stickler syndrome, all with confirmed molecular genetic analysis and sub-typing.

Patients And Methods: It is understood that the National Health Service (NHS) commissioned service at Addenbrookes Hospital, Cambridge, UK has the largest cohort of Stickler syndrome patients in the paediatric age group worldwide with 240 registered children. Fifty-nine were assessed radiologically and for their genotypes.

L1 vertebral density on CT is too variable with different scanning protocols to be a useful screening tool for osteoporosis in everyday practice.

Objective: To determine whether a single L1 density threshold can be used to screen all patients undergoing CT at a busy tertiary referral centre for those at risk of osteoporosis.

Methods: 200 patients, who had been randomly selected for an audit of CT reporting of incidental vertebral fractures, had their L1 density measured on 864 routine CT examinations. These had been performed with a variety of kVp and intravenous (i.

The reliability of measuring the density of the L1 vertebral body on CT imaging as a predictor of bone mineral density.

Aim: To determine whether the density of the L1 vertebra measured on computed tomography (CT) images correlates with the bone mineral density (BMD) as measured by quantitative computed tomography (QCT), and to determine the reliability of L1 density measurements by different observers to see if this measure could help identify patients who would benefit from formal BMD assessment.

Materials And Methods: Non-contrast CT along with a phantom for determination of BMD was performed on 30 healthy patients. The L1 density was measured by 3 observers at two time-points separated by at least 2 weeks.

The normal ischiofemoral distance and its variations.

The aim of this study is to measure the ischiofemoral distance (IFD) in the normal hip with healthy surrounding soft tissues and describe its variations caused by gender, age and proximal femoral anatomy so that this could serve as a reference for future studies on this subject. This is a retrospective study in which we reviewed the CT scans of 149 patients (298 hips) who had a CT of their pelvis for non-orthopaedic (abdomino-pelvic) pathology. The images were reviewed by two independent observers and the IFD (the smallest distance between the lateral cortex of the ischial tuberosity and the posteromedial cortex of the lesser trochanter), offset (the perpendicular distance from the centre of the femoral head to a line running down the middle of the shaft of the femur) and the neck-shaft angle (the angle between the lines in the middle of the neck to the line forming the axis of the femoral shaft) were measured.

A Comprehensive Single Institutional Review of 2 Years in a Designated Fast-Track Sarcoma Diagnostic Clinic Linked with a Sarcoma Specialist Advisory Group: Meeting the Target but Failing the Task?

Background. National guidelines prompted the implementation of a designated two-week wait referral pathway to facilitate the early diagnosis of sarcomas, to improve treatment outcomes. Methods.

Foreign body granulomatous reaction associated with polyethelene 'Fiberwire(®)' suture material used in Achilles tendon repair.

Repair of acute Achilles tendon rupture is a common procedure. There are many accepted surgical techniques; suture selection is largely due to surgeon preference. We present a case report of a granulomatous reaction to suture material following Achilles tendon repair.

Validation of clinical examination versus magnetic resonance imaging and arthroscopy for the detection of rotator cuff lesions.

Limited evidence exists regarding the validity of clinical examination for the detection of shoulder pathology. We therefore wished to establish the sensitivity, specificity, positive predictive value and negative predictive value of clinical tests and magnetic resonance imaging (MRI) in the diagnosis of rotator cuff disorders against findings at arthroscopy. Using recognised tests for specific shoulder lesions, 117 patients with shoulder symptoms awaiting surgery were examined in a standard manner.

Quantifying the Erlenmeyer flask deformity.

Objective: Erlenmeyer flask deformity is a common radiological finding in patients with Gaucher's disease; however, no definition of this deformity exists and the reported prevalence of the deformity varies widely. To devise an easily applied definition of this deformity, we investigated a cohort of knee radiographs in which there was consensus between three experienced radiologists as to the presence or absence of Erlenmeyer flask morphology.

Methods: Using the presence or absence of Erlenmeyer flask morphology as a benchmark, we measured the diameter of the femur at the level of the physeal scar and serially at defined intervals along the metadiaphysis.

Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist.

The entity described by Gunnar Stickler, which included hereditary arthro-ophthalmopathy associated with retinal detachment, has recently been recognised to consist of a number of subgroups, which might now more correctly be referred to as the Stickler syndromes. They are the most common clinical manifestation of the type II/XI collagenopathies and are the most common cause of inherited rhegmatogenous retinal detachment. This review article is intended to provide the ophthalmologist with an update on current research, subgroups, and their diagnosis together with a brief overview of allied conditions to be considered in the clinical differential diagnosis.

Multicentre trial of weekly risedronate on bone density in adults with cystic fibrosis.

Background: The aim of this study was to assess the efficacy, tolerability and safety of risedronate in adults with CF.

Methods: Patients with a lumbar spine (LS), total hip (TH) or femoral neck (FN) bone mineral density (BMD) Z-score of -1 or less were randomised to receive risedronate 35 mg weekly or placebo, and calcium (1g)+vitamin D(3) (800IU).

Results: At baseline, BMD Z-scores in the risedronate (n=17) and placebo (n=19) groups were similar.

Osseous manifestations of adult Gaucher disease in the era of enzyme replacement therapy.

Enzyme replacement therapy (ERT) for Gaucher disease with mannose-terminated glucocerebrosidase has proved its therapeutic position with salutary effects on hematologic abnormalities, visceral infiltration, and quality of life. The frequency of new bone complications is reduced but not eliminated. Established osteonecrosis is beyond salvage.

Compartment syndromes.

Compartment syndrome can be defined as increased tissue pressure within a closed myofascial space, resulting in disturbed microcirculation and the potential for irreversible neuromuscular ischemic damage. It may present either acutely or chronically. Acute compartment syndrome most commonly occurs following lower limb trauma, and emergency decompression through open and extensive fasciotomies is the treatment of choice.

Changing structure of the femoral neck across the adult female lifespan.

The anatomic distribution of cortical and cancellous bone in the femoral neck may be critical in determining resistance to fracture. We investigated the effects of aging on femoral neck bone in women. In this cross-sectional study, we used clinical multidetector computed tomography (MDCT) of the hips to investigate aging effects in 100 female volunteers aged 20 to 90 years.

Variations in the MRI appearance of the insertion of the tendon of subscapularis.

Standard anatomical textbooks describe the insertion of the subscapularis tendon on to the lesser tuberosity of the humerus. The transverse humeral ligament is also described at this level, as a band of tissue attached to the greater and lesser tuberosities, overlying the long tendon of biceps as it emerges from the capsule of the shoulder joint. The shoulder is a notorious site for anatomical variation but until recently little has been published with regard to the tendon of subscapularis.

MR-guided direct arthrography of the glenohumeral joint.

Aim: To evaluate the feasibility of magnetic resonance (MR)-guided direct arthrography of the glenohumeral joint with a 1.5 T MR system, performing the entire procedure in a single MR examination.

Materials And Methods: MR-guided direct arthrography was performed on 11 patients.

CT of the musculoskeletal system: what is left is the days of MRI?

Magnetic resonance imaging (MRI) plays a central role in the modern imaging of musculoskeletal disorders, due to its ability to produce multiplanar images and characterise soft tissues accurately. However, computed tomography (CT) still has an important role to play, not merely as an alternative to MRI, but as being the preferred imaging investigation in some situations. This article briefly reviews the history of CT technology, the technical factors involved and a number of current applications, as well as looking at future areas where CT may be employed.

MR-guided direct arthrography of the hip.

Purpose: To develop an MR-guided technique for direct magnetic resonance arthrography (DMRA) of the hip using a conventional 1.5 Tesla (T) MRI scanner.

Materials And Methods: Interactive versions of standard single-shot fast spin echo, coherent gradient echo, and fully balanced steady-state free precession sequences were developed, together with the ability to operate the scanner from within the magnet room.

High resolution imaging of the knee on 3-Tesla MRI: a pictorial review.

The recent introduction of 3-Tesla MRI offers substantial advances in musculoskeletal applications. High resolution images can now be obtained with shorter data acquisition times. This article provides a pictorial review of 3-Tesla imaging in the knee with descriptions of both normal anatomy and the more common lesions involving the menisci, ligaments, and articular cartilage.

Imaging modalities in the evaluation of soft tissue complaints.

A number of imaging modalities are available for the assessment of soft tissue complaints. The strengths and advantages of each modality must be seen in the context of any corresponding weakness or disadvantage. The sensitivity and specificity of the imaging technique must also be understood.

Significant ocular findings are a feature of heritable bone dysplasias resulting from defects in type II collagen.

Background/aims: The type II collagenopathies are a phenotypically diverse group of genetic skeletal disorders caused by a mutation in the gene coding for type II collagen. Reports published before the causative mutations were discovered suggest heritable bone dysplasias with skeletal malformations may be associated with a vitreoretinopathy.

Methods: A retrospective notes search of patients with a molecularly characterised type II collagenopathy chondrodysplasia who had been examined in the ophthalmology clinic was conducted.

An international survey of hospital practice in the imaging of acute scaphoid trauma.

Objective: Scaphoid fractures are relatively common. If not treated promptly there may be risk of long-term disability. However, unnecessary wrist immobilization is inconvenient and may hinder professional activities.