WNT1-associated osteogenesis imperfecta with atrophic frontal lobes and arachnoid cysts.

A rare form of osteogenesis imperfecta (OI) caused by Wingless-type MMTV integration site family 1 (WNT1) mutations combines central nervous system (CNS) anomalies with the characteristic increased susceptibility to fractures. We report an additional case where arachnoid cysts extend the phenotype, and that also confirms the association of intellectual disabilities with asymmetric cerebellar hypoplasia here. Interestingly, if the cerebellum is normal in this disorder, intelligence is as well, analogous to an association with similar delays in a subset of patients with sporadic unilateral cerebellar hypoplasia. Those cases typically appear to represent vascular disruptions, and we suggest that most brain anomalies in WNT1-associated OI have vascular origins related to a role for WNT1 in CNS angiogenesis. This unusual combination of benign cerebellar findings with effects on higher functions in these two situations raises the possibility that WNT1 is involved in the pathogenesis of the associated sporadic cases as well. Finally, our patient reacted poorly to pamidronate, which appears ineffective with this form of OI, so that a lack of improvement is an indication for molecular testing that includes WNT1.

Chronic irreducible dislocation of the proximal interphalangeal joint of the fifth toe: a case report.

BACKGROUND: Traumatic dislocation of the interphalangeal of the fifth toe is an unusual foot injury. CASE PRESENTATION: We report the case of a 47-year-old woman who sustained a minor foot injury for more than 30 years, resulting in chronic, irreducible dislocation of the proximal interphalangeal joint of the fifth toe. The affected proximal interphalangeal joint was accessed via a dorsal incision over the unstable interphalangeal joint. It was found that the interposed interphalangeal joint capsule and attenuated lateral collateral ligament were reconstructed, and it was stabilized by temporary insertion of a Kirschner wire. The affected joint was found to be stable, well-positioned and pain-free at the 12-month post-surgical check-up. CONCLUSION: This unusual presentation of a chronic joint dislocation responded favorably to open reduction, soft tissue reconstruction and restabilization of the affected joint. It is suggested that this approach will provide a good and functional outcome even in cases of very long-standing joint injury.

Dysplasia epiphysealis hemimelica: a huge articular mass with unpredictable surgical results.

Dysplasia epiphysealis hemimelica or Trevor's disease is a rare disorder of localised osteochondral overgrowth affecting the epiphysis of extremities. This paper reports a 12-year-old boy presenting with a large bony mass at the left ankle diagnosed as dysplasia epiphysealis hemimelica. The articular surface of the ankle joint of the patient was evaluated with preoperative and postoperative MRIs. The 2-year postoperative MRI showed early osteoarthritis of the ankle, therefore demonstrating the importance of early excision avoiding more complex resections of intra-articular lesions.

Less invasive plate osteosynthesis in humeral shaft fractures.

OBJECTIVE: Stable internal fixation of the humeral shaft by less invasive percutaneous plate insertion using two separate (proximal and distal) incisions, indirect reduction by closed manipulation and fixation to preserve the soft tissue and blood supply at the fracture zone. Early mobilization of the shoulder and elbow to ensure a good functional outcome. INDICATIONS: Humeral shaft fractures (classified according to AO classification as: 12-A, B, C). Humeral shaft fractures extending to the proximal or distal shaft, small or deformed medullary canal or open growth plate. CONTRAINDICATIONS: Humeral shaft fractures with primary radial nerve palsy. Proximal humeral shaft fractures extending to the humeral head. Distal humeral fractures extending to the elbow joint. SURGICAL TECHNIQUE: Two incisions proximal and distal to the fracture zone are used. A 3-cm proximal incision lies between the lateral border of the proximal part of the biceps and the medial border of the deltoid. Distally, a 3-cm incision is made along the lateral border of the biceps. The interval between biceps and brachialis is identified. The biceps is retracted medially to expose the musculocutaneous nerve. The brachialis muscle has dual innervation, the medial half being innervated by the musculocutaneous nerve and the lateral half by the radial nerve. The brachialis is split longitudinally at its midline. The musculocutaneous nerve is retracted along with the medial half of the brachialis, while the lateral half of the brachialis serves as a cushion to protect the radial nerve. A deep subbrachial tunnel is created from the distal to the proximal incision. The selected plate is tied with a suture to a hole at the tip of the tunneling instrument for pulling the plate back along the prepared track. The plate is aligned in the correct position on the anterior surface of the humerus. Traction is applied and the fracture reduced to restore alignment by image intensifier, followed by plate fixation with at least two bicortical locking screws or three bicortical conventional screws in each fragment. RESULTS: Between January 2003 and January 2006, 23 patients were operated on using the less invasive plate osteosynthesis technique. The minimum follow-up period of 12 months was completed in 20 patients. The mean healing time was 14.6 weeks, defined as three of four cortices having stable bridging callus. In one patient with delayed union, healing was observed after 28 weeks. Functional outcomes were evaluated using the Constant Score and the Hospital for Special Surgery (HSS) Score. 19 patients had good to excellent elbow function with a mean HSS Score of 93.5 points. All patients achieved satisfactory shoulder function with a mean Constant Score of 85.8 points compared to 90.6 on the healthy side. Complications observed were one paresthesia of lateral cutaneous nerve of forearm (no radial nerve injury) and one loosening of the LCP (Locking Compression Plate) screws due to technical error.

Pseudoaneurysm of profunda femoris artery following internal fixation of intertrochanteric fracture: two cases report.

The authors report two cases of an uncommon but preventable complication after fixation of intertrochanteric hip fracture, the pseudoaneurysm of the profunda femoris artery. Both cases in the present study presented as proximal thigh mass, and soft tissue sarcoma was suspicious in one case. The diagnosis was confirmed by angiographic study and the feeding vessels were successfully occluded during angiography. Proper placement of the retractors, using a shorter drill or drill guard, accurate screw length and a shorter side-plate DHS were recommended to prevent this problem.

Rectus femoris transfer for children with cerebral palsy: long-term outcome.

The purpose of this study was to evaluate the long-term results of rectus femoris transfer in cerebral palsy children with stiff-knee gait. Thirty-eight affected limbs in 24 children were evaluated preoperatively and 1 year postoperatively by gait analysis, with 26 limbs in 18 patients having final study, averaging 4.6 years postoperatively. Functional ambulatory status was evaluated based on Hoffer's criteria on ambulation. There were statistically significant improvements of 9.8 degrees in maximum swing-phase knee flexion and 7.0 degrees in total range of knee motion at 1 year, with a small loss of knee extension in stance. At final gait analysis, the improvement in the swing-phase knee flexion was maintained, but improvement in total range of knee motion was decreased. There were no significant changes in temporal parameters. Improvement in swing-phase knee flexion and foot clearance after rectus femoris transfer was associated with loss of knee extension at long-term follow-up. Hamstring lengthening in patients who develop excessive stance-phase knee flexion may be necessary.