[Two cases of rehabilitation in Ehler-Danlos syndrome]. / Prise en en charge rééducative de la maladie d'Elhers-Danlos: à propos de deux cas.

PURPOSE: Ehlers-Danlos syndrome is rare and little known. It comprises a heterogeneous group of heritable connective tissue disorders characterized by articular hypermobility, skin extensibility and tissue fragility. Diagnosis may be difficult and often delayed. CASE REPORT: Here we describe 2 cases of women with Ehlers-Danlos syndrome. The first had scoliosis with back pain and joint hypermobility. The second presented with hypermobility and joint dislocation, which increased during pregnancy. In these 2 cases, rehabilitation management produced clinical improvement. DISCUSSION: Orthopaedic complications such joint pain, joint swelling, joint dislocation, back pain, with walking and hand function disability are the main problems in Ehlers-Danos syndrome. Surgery may be necessary to correct dislocated joints but is often not sufficient to resolve the handicap, and physical therapy has an important place in management. CONCLUSION: Ehlers-Danlos syndrome is an evolving disease that can lead to great impairment. Thus, physicians must be aware of this syndrome to offer the best management, with the appropriate use of orthotic devices, specific strengthening routines, education in proper body mechanics and assistive devices, to prevent joint dislocation and subluxations responsible for pain and handicap.

[Home care and quality of life three years after stroke]. / Maintien à domicile et qualité de vie à distance d'un accident vasculaire cérébral.

INTRODUCTION: Stroke is the most disabling chronic disease among adults. The assessment of quality of life is of great importance to improve the management of patients with stroke sequelae returning to the community. METHOD: A total of 93 patients and their referring clinicians were contacted. Quality of life of patients three years after stroke was assessed by use of the Short-Form Health Survey (SF-36). RESULTS: Thirteen patients died during this period. Fifty participated in the study. The average age was 66.8 years. The patients who died were older and had an initial greater impairment after stroke than survivors. In most of the cases, a life plan, built during the inpatient rehabilitation period, could be achieved. Just six patients had to change their way of life during the three years after stroke. A total of 44% of the patients needed human assistance for basic daily living activities. Patients with stroke had lower scores on the SF-36 than their healthy peers. All subscale scores differed for patients with stroke, as compared with health peers. Initial disability, the occurrence of falls, age and urinary incontinence at the time of the study indicated poor prognosis. DISCUSSION: Our results are close to those previously published: a great number of people who survive stroke live with sequelae that requires assistance in the home and have decreased quality of life. These results stress the importance of follow-up by a rehabilitation team to prevent altered quality of life, with a special care to urinary incontinence and falls, especially in old people with abundant sequelae of stroke.

[Gait orthosis in patients with complete thoracic paraplegia. Review of 43 patients]. / Place actuelle de la marche appareillée chez les patients paraplégiques complets de niveau thoracique. A propos d'une cohorte de 43 patients.

OBJECTIVE: To evaluate of the effective use of gait orthosis in patients with spinal cord injuries. PATIENTS AND METHODS: A total of 43 patients with complete paraplegia, level T3 to L1, who had a gait orthosis (hip-knee-ankle-foot orthosis, reciprocating gait orthosis, hybrid orthosis and functional electrical stimulation) answered a telephone questionnaire. RESULTS: Orthotic gait use was discontinued in 65% of patients who used the orthosis twice a week for 15 to 60 minutes. Two-thirds of the patients were able to fit the orthosis independently, 60% for standing and 25% for walking. The main reasons for discontinuing use were psychological reasons in 30% of patients, the lack of functional use and the necessity for human help or supervision. CONCLUSION: Presently available devices do not allow functional and independent use of gait orthoses. Their use is limited to physical training, and the only demonstrated physiological benefits are the effects of functional electrical stimulation on cardiovascular status. Prescription for gait orthosis appears justified only if requested by a motivated and well-informed patient or if it appears a useful step in the acceptation of the loss of the gait.

[Charcot-Marie-Tooth disease associated with syringomyelia revealed by urinary disorders]. / Association de maladie de Charcot-Marie-Tooth et de syringomyélie révélée par la survenue de troubles urinaires.

PURPOSE: Charcot-Marie-Tooth (CMT) disease is characterized by genetic and clinical heterogeneity. The occurrence of urinary disorders is unusual and requires further investigation. CMT disease and syringomyelia are not usually associated. Moreover, primary urinary signs in syringomyelia are not frequent. CASE REPORT: An 11-year-old girl with CMT disease 1A duplication presented with motor deficit of the leg associated with urinary disorders. Urodynamic study revealed neurogenic detrusor overactivity, and magnetic resonance imaging confirmed syringomyelia extending from T11 to an L1 located conus. DISCUSSION: Review of the literature confirmed the possibility of primary urinary signs in syringomyelia, with only one case of CMT and urinary signs described. In this case, the diagnosis was radicullar and medullar compression by a hypertrophic nerve formation called an "onion bulb" reflecting the demyelinisation and remyelinisation cycle. CONCLUSION: Urinary signs in CMT disease are exceptional and require investigation into the possibility of a central lesion.

Treatment of spasticity with intrathecal Baclofen administration: long-term follow-up, review of 40 patients.

STUDY DESIGN: Case series of a consecutive sample. Retrospective audit. OBJECTIVE: To analyze the long-term safety and efficacy of intrathecal baclofen (ITB), and technical incidents. SETTING: Neurosurgical and Physical Medicine Departments of two university hospitals in western France. METHODS: The medical records of 40 patients who underwent ITB pump placement for the treatment of severe chronic spasticity were reviewed. Patients were eligible independently of the origin of the spasticity (spinal cord origin 33, brain damage 8). They underwent a final assessment with clinical examination and questionnaire in 2001. Ashworth scale scores were assessed, patient satisfaction was rated on a visual analog scale (VAS), functional independence before and after treatment was classified as bed-ridden, wheelchair dependent or ambulant, and the frequency and nature of complications were noted. RESULTS: The average follow-up period was of 4 years. The average Ashworth score at the final assessment was 1.8+/-0.6. Average patients satisfaction was 7.4/10+/-2.21 on VAS. In all, 85% would have undergone the procedure again if they had to make the decision. In 85% of the cases the ambulation status was unchanged. Technical incidents occurred at least once in 37% of the patients (due to the catheter in 58% and to the pump in 42%). They included catheter disconnections (4), migration (4), kinks (3), obstruction (3), development of fibrosis (3), disconnection of pump reservoir (2), porosity of pump membrane (2), unexplained pump dysfunction (4) leakage, and subcutaneous collection (5). Severe pharmacological side effects requiring transfer to intensive care unit occurred in 12% of cases, 80% of which were directly related to pump refill procedures. CONCLUSION: ITB remained effective in the long term and patients were satisfied. Nevertheless, complications were frequent, involving mainly the catheters, which would require further technical improvements.

[Heparin induced thrombocytopenia: case report with acute thrombotic complications and literature review]. / Thrombopénie induite par l'héparine : présentation d'une observation avec complications thrombotiques graves et revue de la littérature.

PURPOSE: Review of the frequency, clinical and biological features and treatment of type II heparin-induced thrombocyopenia. METHODS: Case report and literature review. RESULTS: A 65 years old woman received as antithrombotic prophylaxis low molecular weight heparin (LMWH) after prosthetic knee replacement. Day 8, asymptomatic deep vein thrombosis was discovered after systematic echodoppler examination. Curative anticoagulation was started with LMWH. A fall in the platelet count (17 G/L) was noted day 12. Danaparoid was immediately introduced and heparin discontinued. However, day 16 a massive pulmonary embolism occurred which required transfer to an intensive care unit. Danaparoid was changed for lepirudin the same day. It took longer than three weeks for platelet count to return to normal value after heparin discontinuation. The suspicion of heparin-induced thrombocyopenia was confirmed by specific tests. DISCUSSION: HIT type II are rare but life-threatening and thrombosis events are the most frequent complications. The diagnosis is a high probability proved by both clinical and biological patterns. The treatment consists in alternative thrombin inhibitors such as danaparoid and lepirudin. The platelet count usually requires less than ten days to recover normal values after heparin withdrawal. Cases in which the delay to a normal platelet count exceeds 3 weeks have been reported specially after LMWH therapy. CONCLUSION: Type II HIT are rare but life-threatening events can occur. The platelet count check-up during heparin therapy must be systematic.