Journal of Peking University(Health Sciences) ›› 2018, Vol. 50 ›› Issue (6): 1112-1116. doi: 10.19723/j.issn.1671-167X.2018.06.031

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Progressive pseudorheumatoid dysplasia misdiagnosed asankylosing spondylitis: a case report

Rui LIU,Jia-yu ZHAI,Xiang-yuan LIU,Zhong-qiang YAO()   

  1. Department of Rheumatology and Immunology, Peking University Third Hospital, Beijing 100191, China
  • Received:2018-07-26 Online:2018-12-18 Published:2018-12-18
  • Contact: Zhong-qiang YAO E-mail:yaozhongqiang@sina.com

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Abstract:

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.

Key words: Progressive pseudorheumatoid dysplasia (PPD), WISP3 gene, Mutation

CLC Number: 

  • R596

Figure 1

Hands (A) and foot (B) X-ray showed multi-joint degeneration, calcaneus shortened (white arrow), astragalus flattened (black arrow)"

Figure 2

Poor alignment of the double hip joints, there were hyperplasia, osteophytes, and the joint spaces were narrow, the cystic changes under the joint surface, both femoral heads were flattened and the density was uneven, it could be see that patchy high density and cystic changes, bilateral femoral neck thicken, neck dry angles were smaller"

Figure 3

Mild lateral curvature of the spine (arrow), partial intervertebral space stenosis, vertebral body and small joint hyperosteogeny, flat vertebra were common A, positive; B, lateral."

Figure 4

Degeneration of bilateral sacroiliac joints"

Figure 5

Lumbar MRI showed multiple vertebral body flattened (arrow), no disc disease and bone marrow edema A, T1WI; B, short time inversion recovery (STIR)."

Table 1

Summary of all currently known WISP3 gene mutations in PPD patients in China"

No. Location Nucleotide change Amino acid change References
1 Exon 2 c.105dupT p.Gly36fs*10 [14]
2 Exon 2 c.208_209insA - [10]
3 Exon 2 c.136C>T p.Gln46* [7,10,13]
4 Exon 3 c.342T>G p.Cys114Trp [10,12-15]
5 Exon 3 c.342G>A p.Cys114Try [7]
6 Exon 4 c.624delA p.Lys208fs*24 [14]
7 Exon 4 c.624_625insA p.Cys209fs*229 [10]
8 Exon 4 c.667T>G p.Cys223Gly [10,16]
9 Exon 4 c.679dupA p.Cys227Leufs*21 [15]
10 Exon 4 c.716_722delAAATGAG p.Glu239fs*16 [12]
11 Exon 4 c.721T>G p.Cys241Gly [15]
12 Exon 4 c.729_735delGAGAAAA p.Glu243fs*255 [10,13]
13 Exon 4 c.756C>A p.Cys252* [9,16]
14 Exon 5 c.840delT p.Phe280Leufs*33 [11]
15 Exon 5 c.866_867insA p.Gln289fs*31 [10,12]
16 Exon 5 c.866dupA p.Ser290Glufs*13 [13]
17 Exon 5 c.857C>G p.Ser286* [13]
18 Exon 5 c.1000T>C p.Ser334Pro [11-12]
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