Halil Koyuncu

A 14-year-old girl with Smith-McCort dysplasia misdiagnosed as seronegative juvenile idiopathic arthritis

Dear Editor, Spondylo-epi-metaphyseal dysplasias (SEMDs) are a heterogeneous group of disorders with differing modes of inheritance, all of which are defined by the combination of vertebral, epiphyseal and metaphyseal abnormalities. The specific diagnosis is based on the specificity of the skeletal manifestations or the presence of characteristic extraskeletal features. Dyggve-Melchior-Clausen syndrome (DMC) and Smith-McCort dysplasia (SMC) are rare autosomal recessive SEMDs. SMC (OMIM: 607326), which is a rare variant of DMC syndrome without evidence of mental retardation, has been shown to be allelic to DMC syndrome. Smith-McCort dysplasia is a progressive, autosomalrecessive SEMD that may be misdiagnosed in clinical practice as juvenile idiopathic arthritis (JIA). The clinical importance of this rare disorder may be attributed to its clinical similarity to JIA, which has a very different prognosis and treatment regimen. Typical dysplastic skeletal abnormalities, which occur mainly in the spine and iliac bones, and the absence of synovial inflammation enable the differential diagnosis of SMC from JIA. We present the case of a 14-year-old girl with SMC who was misdiagnosed as having JIA. A 14-year-old girl was admitted to our hospital with pain in the bilateral hip and leg that had hindered her normal walking for 3 months. Evaluation of the clinical history revealed that the pain had started from both hips and spread to the legs, and had gradually reduced her ability to walk. She reported that she could not stand or walk without support for the previous 2.5 months. The history of the patient revealed no evidence of swelling, redness or warmth of the joints during this time period. Approximately 3.5 months prior to presentation at our hospital with these complaints, she had consulted an orthopedic surgeon, who had recommended bilateral total hip arthroplasty. In the meantime, she was admitted to our hospital and was evaluated at the Departments of Pediatrics and Rheumatology, _Istanbul University Cerrahpasa Medical Faculty, Turkey. After a diagnosis of a seronegative rheumatoid arthritis, treatment was initiated with a regimen of prednisolone 5 mg once daily, methotrexate 15 mg/ week, calcium–vitamin D once daily, and folic acid once daily, twice a week in the Department of Rheumatology. These treatments did not produce any change in her pain or walking ability. The patient is the fifth child in a family in which the parents are non-consanguineous. She had no history of severe disease or disability, apart from slow growth and developmental delay. Neurological examination was normal, and the patient was still receiving primary education. She had short and fusiform hand fingers. Increased anteroposterior chest diameter and kyphoscoliosis were present, and the proximal portions of the upper and lower limbs were short. She had pain and limitation regarding range of motion in the knee and hip joints bilaterally. She also had bilateral valgus deformity of the knee and ankle joint. The right and left leg lengths were 63 and 67 cm, respectively. The patient’s serum 25-hydroxyvitamin D, parathyroid hormone, thyroxine, thyroid stimulating hormone, acute phase response proteins, serum protein electrophoresis, and bone, liver, and kidney profiles were all normal. Urine amino acids were normal and there was no excretion of mucopolysaccharides. Spinal radiography revealed platyspondyly in almost all the vertebral bodies (Fig. 1), and pelvis radiography revealed lacy iliac bones and dysplasia of the acetabulum and femoral heads bilaterally (Fig. 2). In a cervical magnetic resonance imaging, there was odontoid hypoplasia, platyspondyly at multiple levels, irregularities of the end-plates, and characteristic double-humped appearance due to a wedge-shaped ossification defect. The bone mineral density (BMD) of the patient was measured using dual-energy X-ray absorptiometry (DEXA; Hologic QDR-4500, Bedford, International Journal of Rheumatic Diseases 2012; 15: e55–e57

615 THE COMPARISON OF EFFICACY AND SAFETY OF THIOCOLCHICOSIDE AND PHENPYRAMIDOL IN ACUTE SPINAL PAINFUL MUSCLE SPASMS — AN OPEN STUDY

pain relief was 62%±27% at 12m. EQ-5D health status improved from 0.19±0.32 to 0.46±0.36 (p< 0.001). Oswestry scores also improved from 53±12, categorized as severe disability, to 38±19 (p< 0.001), categorized as moderate disability. 93% of patients would elect SCS again for the same result, and 98% would recommend SCS to a friend with similar pain. Conclusions: All patients independently recharged the neurostimulator battery. Significant improvements in pain reduction, quality of life, and functional status were observed throughout 12 months post-implant, with a high rate of patient satisfaction with the therapy.

802 THE MANAGEMENT OF SPASTICITY ASSOCIATED PAIN IN STROKE WITH BOTULINUM TOXIN A

Objective: In the recent years, rate of elective caesarian sections has significantly increased in Iran. One of the most important causes is that the pain relief methods are not usually available. This study evaluate the effect of continuous labor support by a female companion on labor pain. Methods: A clinical trial was conducted on 150 eligible primigravid women, 18−30 years old. They were randomly assigned in to the either a supported group (n = 75) or a control group (n = 75). The women in the supported group continuously received support by a female companion, who was a relative or friend of the woman. The supports consisted of talking, touching, reassurance, soothing, encouragement, and physical comfort (e.g, position changing, to moisten lips. . . ). Results: Continuous labor support by a female companion, significantly reduced labor pain intensity (p = 0.026) and increased mother’s satisfaction of childbirth experience (p = 0.0001). Conclusion: Since in hospitals of Iran, the husbands are not allowed to accompany their wives during labor, the emotional support given by a female supporter can be useful. Applying this method may reduce numbers of elective caesarians.

919 THE EVALUATION OF CORRELATION BETWEEN THE NUMBER OF HERNIATION AND CLINICAL TESTS AT CERVICAL DISC HERNIATIONS

Multiple cutaneous and uterine leiomyomatosis (Reed’s syndrome) is an autosomal dominant disease in which cutaneous leiomyomas were seen in the individuals of both sexes and uterine leiomyomatosis were seen in females. Recently mutations of fumarate hydratase enzyme had been detected in families and a subset of those families are predisposed to renal papillary renal cell cancer. A 35 year old woman was presented with thousands of painful reddish brown papules on the extensor surfaces of her whole left arm and left limb. Her family history was remarkable for similar cutaneous lesions, uterine leiomyomatosis and renal carcinoma. She had hysterectomy operation because of uterine leiomyomatosis. Her cutaneous leiomyomatosis gradually became symptomatic, causing intractable pain over the last 7 years. The pain was spontaneous having stabbing, burning and pinching qualities and showing exacerbation with explosure to cold, pressure and emotional stress. Management of pain in cutaneous leiomyomatosis is challanging. Since she had multiple lesions covering large areas within the skin surgical excision was not considered in our patient. Treatment with nonsteroidal anti-inflammatory drugs, nifedipine and fenoxybenzamine failed. In the presented case the pain could be only controlled with the combination treatment of tramadol HCl (300mg/day), gabapentin (2400mg/day), amitriptilin HCL (25mg/day). In the literature various treatment modalities have been used in the management of chronic pain of cutaneous leiomyomatosis including laser therapy, cryotherapy, surgery and monotherapy. We suggest that a combination of agents with different mechanisms can be effective for pain relief in inoperable patients with cutaneous leiomyomatosis.

924 THE EVALUATION OF CORRELATION BETWEEN DEEP TENDON REFLEX AND DEXA IN MECHANICAL LOW BACK PAIN (LBP) AND/OR LEG PAIN

Methods: Seventy chronic LBP patients, in a general hospital environment, completed the Greek MSPQ during initial examination together with: the Tampa Scale of Kinesiophobia (TSK), the Hospital Anxiety & Depression Scale (HAD), the Pain Locus of Control (PLC), the current pain intensity (PPI) and the average pain intensity (VAS) measures. The MSPQ was examined for test-retest reliability (N = 20) (two days inbetween), and sensitivity to change after treatment with a behaviorallyoriented physiotherapy protocol (N = 21). Results: Internal consistency was satisfactory (Cronbach’s a = 0.87). Divergent validity was shown through the little or no relationship with the other measures (r: PLC-pr = −0.35*, PLC-pc = −0.2, TSK= 0.41*, HADa = 0.36*, HAD-d = 0.42*, PPI = 0.27, VAS= 0.25) Test-retest reliability was also satisfactory (ICC= 0.92). Paired t-test showed statistically significant variation beforeand after-treatment (t = −3.29, p< 0.005). *p< 0.01. Conclusions: The Greek MSPQ version is a valid, reliable and sensitive instrument suitable for use in chronic musculoskeletal patients.

796 EFFICACY OF GABAPENTIN IN PAINFUL DIABETIC NEUROPATHY — AN OPEN — SHORT TIMED STUDY

Background: Pulse Mode Radiofrequency lesioning of suprascapular nerve is a novel; non-ablative technique has been shown to be effective in pain control and improved shoulder joint movements [1]. Objective: To establish patients perception to Pulse radiofrequency lesioning and to determine its efficacy in reducing pain resistant to conventional drug therapy. Methodology: Thirteen patients who were treated with Pulse Radiofrequency lesioning of the suprascapular nerve for chronic shoulder pain were sent a questionnaire evaluating the efficiency of the treatment received. Ten patients returned their completed forms to clinical audit department for analysis. Summary of findings: The majority of patients (8/10) had the treatment once and two patients had received treatment three times. Fifty percent of patients (5/10) reported either no change in the level of pain or that the pain had became worse since treatment. Fifty percent of patients (5/10) indicated that the duration of the effects of the treatment lasted less than six months. Eighty percent of the patients did not reduce their pain relief medication since the treatment. Sixty percent of patients recorded that they would consider further treatments with Pulse Radiofrequency while thirty percent recorded that they would not consider further treatments. Conclusions: The efficacy of Pulse Radiofrequency lesioning was found to be equivocal in this small sample of patients. Further large sample size study is needed before conclusions can be drawn on its effectiveness.