Proximal muscle weakness as a result of osteomalacia associated with celiac disease: a case report.

UNLABELLED: A 24-year-old woman suffering from back and hip pain with difficulty in walking was reported. She had proximal muscle weakness. Laboratory findings led to the diagnosis of osteomalacia. Positivity of antibodies strengthened suspicion of celiac disease. In patients with proximal muscle weakness, osteomalacia should be considered in differential diagnosis even in a young woman. INTRODUCTION: A 24-year-old woman suffering from back pain, bilateral hip pain, and difficulty in walking was reported. Her symptoms had started in the first trimester of pregnancy. METHODS: In her physical examination, proximal muscle weakness and waddling gait pattern were determined. Her lumbar spine and hip MRI revealed no obvious pathological findings. Electromyography showed a myophatic pattern. RESULTS: Physical examination, normal values of creatine kinase, and muscle biopsy were supplied to exclude the diagnosis of primer muscle diseases. Laboratory findings led to the diagnosis of osteomalacia with normal renal function. Gastrointestinal symptoms and positivity of anti-gliadin and anti-endomysium antibodies strengthened the suspicion of celiac disease as a cause of the osteomalacia. The diagnosis of celiac disease was confirmed with duodenal mucosal biopsy. CONCLUSION: In patients with proximal muscle weakness and waddling gait pattern, osteomalacia should be considered in differential diagnosis even in a young woman and underlying disease should be investigated.

Clinical, radiographic and echocardiographic findings in a patient with ochronosis.

Hereditary alkaptonuric ochronosis is an autosomal recessive metabolic disorder that affects approximately one in one million individuals. The most common clinical features are homogentisic aciduria, pigmentation of cartilages and other connective tissues, ochronotic arthritis and cardiovascular ochronosis. We report a case of ochronosis which has all these clinical features mentioned above. We detected homogentisic acid in the patient's plasma and urine sample by using a high-performance liquid-chromatographic method. The patient was HLA-B27 negative. The case was evaluated with both conventional radiography and helical CT. The main characteristic manifestations of ochronotic arthritis were observed in conventional radiographs. We also obtained Ray-Sum and maximum intensity projections (MIP) images of ankylosed ochronotic spine of our patient. Such images of an ochronotic patient were not encountered in the literature. Echocardiographic examination revealed thickening of the right coronary cusp which may be related to ochronotic calcific deposition, along with coaptation deficiency and slight aortic regurgitation (grade I-II). No other abnormalities concerning the other valves and ventricular function were detected.

A severely disabling disorder: fibrodysplasia ossificans progressiva.

Fibrodysplasia ossificans progressiva (FOP) is an extremely rare hereditary disorder characterised by progressive heterotopic ossification of the soft tissues. The resulting progressive immobilisation of the limbs, jaw and chest wall generally leads to severe disability. We present an 18-year-old girl with advanced FOP. She had three operative interventions to excise her ectopic bones but all resulted in failure. Treatment strategies for this disorder should include the avoidance of exacerbating factors.

The reliability and validity of the Turkish version of Quality of Life Questionnaire of the European Foundation for Osteoporosis (QUALEFFO).

The purpose of this study was to investigate the reliability and validity of the Turkish version of Quality of Life Questionnaire of the European Foundation for Osteoporosis (QUALEFFO). The patient group included 43 females aged between 55 and 78 years with vertebral fractures due to osteoporosis. The control group consisted of 43 healthy female volunteers whose ages matched those of the patients. All of the participants were evaluated using both QUALEFFO and SF-36. In the reliability studies, internal consistency within the domain of QUALEFFO was generally good, with Cronbach's alpha values ranging between 0.70 and 0.96. Convergent and discriminant validity rates of domains were both found to be between 89% and 100%. Significant correlations existed between scores of similar domains of QUALEFFO and the SF-36, especially for pain, physical function, social function and general health perception. The receiver operating characteristic (ROC) curve analysis of QUALEFFO and the SF-36 indicated that all five domains in each questionnaire were significantly predictive of vertebral fractures. However, when comparing similar domains of the two questionnaires, the social function domain of QUALEFFO demonstrated a significantly better performance. In conclusion, the Turkish version of QUALEFFO was found to be reliable and valid in the evaluation of patients with vertebral fractures due to osteoporosis. Our study also suggests that the patients with vertebral fractures due to osteoporosis have impairment in quality of life.

Spondyloepiphyseal dysplasia tarda with progressive arthropathy.

Spondyloepiphyseal dysplasia tarda with progressive arthropathy, described by Wynne-Davies et al., is a rare autosomal recessive disorder. It is characterised by generalised platyspondyly and epiphyseal involvement, with enlargement of both ends of the short tubular bones of the hands. Clinical features include onset in childhood, a disproportionately short stature and premature osteoarthritis. We describe the clinical and radiographic findings of a young woman suffering from spondyloepiphyseal dysplasia tarda with progressive arthropathy.