Achondroplasia with seronegative spondyloarthropathy resulting in recurrent spinal stenosis : A case report.

BACKGROUND: Achondroplasia is an autosomal dominant condition caused by the G380 mutation of the gene encoding fibroblast growth factor receptor 3 on chromosome 4P. The classical findings include rhizomelic extremities, short stature, and spinal stenosis involving the upper cervical and distal lumbar spine. Rarely, achondroplasia coexisting with seronegative spondyloarthropathy can result in recurrent canal stenosis. Here, we report a 36-year-old male with symptomatic recurrent L3-L4 spinal stenosis 9 years following an original L2-S1 lumbar decompression for stenosis.

CASE DESCRIPTION: A 36-year-old male with achondroplasia (height of 113 cm and weight 43 kg [BMI-33.7]) presented with low back and right lower extremity sciatica (ODI 39). He had achondroplasia with a short stature. Nine years ago, he had an L2-S1 laminectomy for decompression of stenosis. When the new MRI revealed recurrent severe L3-4 stenosis, he underwent a repeated L3-L4 decompression with fusion. One year later, the patient was neurologically intact with radiographic confirmation of adequate L3-L4 arthrodesis.

CONCLUSION: A 36-year-old male with achondroplasia and a history 9 years ago of an L2-S1 laminectomy for stenosis, presented with symptoms and signs of recurrent L3-L4 stenosis that responded to repeated decompression and fusion.