Indian journal of orthopaedics
June 18, 2026 · via Europe PMC
Progressive Pseudorheumatoid Dysplasia Presenting with Cauda Equina Compression: A Case Report.
Udayakumar P, Palaniappan P, Sharma D, Amalnath D.
AI summary — for doctors, generated from the abstract only
A 21-year-old man with progressive pseudorheumatoid dysplasia presented with cauda equina compression from a disc extrusion and recovered fully after decompression.
What was studied
Single case report of a man with bilateral leg pain and progressive weakness; imaging showed platyspondyly, scoliosis and an L1-L2 disc extrusion with severe canal stenosis, and whole-exome sequencing found a homozygous CCN6 missense variant (p.Cys337Tyr).
Key findings
- Inflammatory markers were negative and the diagnosis was confirmed genetically
- He underwent posterior decompressive laminectomy with stabilization
- Complete neurological recovery was reported at six weeks
Clinical relevance
Skeletal dysplasia such as PPD should be considered in young patients with unexplained arthropathy-like features and spinal disease, and acute cauda equina syndrome may need urgent surgery.
Who should care
Limitations
A single case with only six weeks of reported follow-up; cannot establish how common cauda equina involvement is in PPD or long-term outcomes.
The case highlights a rare presentation of PPD and supports early recognition and surgical management, with evidence limited to one patient.
This is an AI-generated summary of the published abstract, not a clinical recommendation. It may not reflect the full text or subsequent updates — verify against the original source before acting on it.
Abstract
Background Progressive pseudorheumatoid dysplasia (PPD) is a rare autosomal recessive skeletal dysplasia frequently misdiagnosed as juvenile idiopathic arthritis because of overlapping clinical features. Case presentation We report a 21-year-old man who presented with bilateral leg pain and acute progressive lower-limb weakness associated with gait disturbance. Clinical examination revealed asymmetric motor weakness, absent knee and ankle reflexes, and preserved bowel and bladder function. Radiographs demonstrated generalized platyspondyly, scoliosis, and epiphyseal enlargement of long bones. Magnetic resonance imaging revealed a right paracentral L1-L2 disc extrusion causing severe central canal stenosis with compression and displacement of cauda equina nerve roots. Laboratory investigations were negative for inflammatory markers. Whole-exome sequencing identified a homozygous missense variant c.1010G A (p.Cys337Tyr) in the CCN6 gene, confirming the diagnosis of PPD. The patient underwent posterior decompressive laminectomy with stabilization, resulting in complete neurological recovery at six weeks. Conclusion This case highlights the rarity of acute cauda equina syndrome in PPD and emphasizes the importance of early recognition and appropriate surgical management.
Background Progressive pseudorheumatoid dysplasia (PPD) is a rare autosomal recessive skeletal dysplasia frequently misdiagnosed as juvenile idiopathic arthritis because of overlapping clinical features. Case presentation We report a 21-year-old man who presented with bilateral leg pain and acute progressive lower-limb weakness associated with gait disturbance. Clinical examination revealed asymmetric motor weakness, absent knee and ankle reflexes, and preserved bowel and bladder function. Radiographs demonstrated generalized platyspondyly, scoliosis, and epiphyseal enlargement of long bones. Magnetic resonance imaging revealed a right paracentral L1-L2 disc extrusion causing severe central canal stenosis with compression and displacement of cauda equina nerve roots. Laboratory investigations were negative for inflammatory markers. Whole-exome sequencing identified a homozygous missense variant c.1010G A (p.Cys337Tyr) in the CCN6 gene, confirming the diagnosis of PPD. The patient underwent posterior decompressive laminectomy with stabilization, resulting in complete neurological recovery at six weeks. Conclusion This case highlights the rarity of acute cauda equina syndrome in PPD and emphasizes the importance of early recognition and appropriate surgical management.
DOI
10.1007/s43465-026-01864-5
PMID
42871213
Research metadata (titles, abstracts, authors, publication dates) is sourced from Europe PMC, which aggregates content from PubMed/MEDLINE, PubMed Central, and other providers under the U.S. National Library of Medicine (NLM/NCBI). NLM does not claim copyright on abstracts; the original journal publishers or authors may hold rights to the full articles. AI-generated summaries are derived only from the abstract, never the full text, and are always labeled as AI-generated.
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