[Progressive pseudorheumatoid dysplasia misdiagnosed as ankylosing spondylitis: a case report].

In this study, we reported a case of progressive pseudorheumatoid dysplasia in Peking University Third Hospital. A 56-year-old male patient presented with hip joint pain for more than 40 years and multiple joints pain with limitation of movements of these joints for 28 years. This patient suffered from joint pain and impaired range of motion of the hip, knee, elbow and shoulder gradually, associated with difficulty in walking and inability to take care of himself. He was diagnosed with "femoral head necrosis" or "ankylosing spondylitis" in local hospitals, but the treatment of nonsteroidal antiinflammatory drugs (NSAIDs) and sulfasalazine was not effective. Up to the age of 14, the patient displayed normal physical development, with the highest height was about 158 cm, according to the patient recall. However, his height was 153 cm at present. There was no history of similar illness in any family member. Physical examinations descried limitation of movement of almost all joints. Enlargement and flexion deformity of the proximal interphalangeal (PIP) joints of the hands resulted in the claw hand appearance. Limited abduction and internal and external rotation of the shoulder and hip could be find. He had normal laboratory findings for blood routine test, biochemical indexes and acute phase reactants such as C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR). Furthermore, HLA-B27 and autoimmune antibodies such as rheumatoid factor (RF), anti-cyclic citrullinated peptide (anti-CCP) antibody and antinuclear antibody (ANA) were all negative. X-ray of the hip showed loss of the joint space and irregularities of the femoral head, both femoral head were flattened, it could be see hyperplasia, osteophytes, bilateral femoral neck thicken, neck dry angle turned smaller. The radiological findings of the spinal vertebra indicated kyphosis deformity, narrowing of the intervertebral discs, vertebral syndesmophytes and flattening of the vertebra. However, there was no clues of bone marrow edema in the lumbar MRI. At last, genetic testing for the Wnt1-inducible signaling pathway protein 3 (WISP3) gene was done and indicated compound heterozygous mutations: 756C>G and c.866dupA. These two mutations were derived from the patient's mother and father (the patient's parents each had a heterozygous mutation). Two exons of the WISP3 gene had nucleotide changes leading to amino acid mutations. According to the patient's history, symptoms, physical examinations, radiological findings and genetic testing, the final definitive diagnosis was progressive pseudorheumatic dysplasia.

[Cause analysis of spinal surgery in ankylosing spondylitis].

OBJECTIVE: To investigate the common cause of spinal surgery in ankylosing spondylitis (AS) and to develop reasonable and effective treatment programs for rhematologists. METHODS: In this study, 79 AS patients (72 males, 7 females) hospitalized in the Department of Orthopedic and received spinal surgery in Peking University Third Hospital from January 2007 to July 2013 were investigated retrospectively. The causes of the spinal surgery were analyzed. RESULTS: The majority of the surgery were of cervical vertebra surgery for 59 cases (74.7%), followed by the thoracolumbar vertebra, thoracic vertebra, cervicothoracic vertebra, and lumbar vertebra. The common causes of AS spinal surgery were instability (53.2%) including fracture and dislocation caused by trauma mostly, followed by compression symptoms (34.1%). However, the orthopaedic surgery (12.7%) was not the predominant surgery causes. The most common cause of cervical surgery was cervical spondylosis (25 cases), followed by cervical fracture (22 cases) and cervical dislocation (10 cases). For cervical fracture, the most common site was C7 (8 cases). Atlanto-axial vertebral lesions (13 cases) induced by dislocation, subluxation, instability and fracture were common in cervical vertebra surgery. The age and disease duration of atlantoaxial surgical patient's were less than other parts of the cervical surgery. Thoracolumbar vertebra surgery included thoracolumbar kyphosis orthopaedic surgery (10 cases), and fractures (6 cases), which mainly occurred in T11-12 vertebrae. According to the time of admission for surgery, the cases of AS that received spinal surgery were 34 from 2007 to 2008. The number of the cases that accepted the surgery decreased gradually year by year. CONCLUSION: The majority surgery section was cervical vertebra, and atlanto-axial vertebral lesions were not rare as we thought. The main etiology of spinal surgery for AS patients was instability, e.g. fracture and compression symptoms. Of course, trauma accounted for the relative percentage of this phetonomenon. Although, the annual number of patients who receives spinal surgery is decreasing, to go to make early diagnosis and treatment, and to standardize patient education for AS patients are still important.