Adult case of acrodysostosis with severe neurologic involvement

Acrodysostosis is a rare syndrome characterized by peripheral dysostosis, nasal hypoplasia and frequently mental retardation. Only one adult case of acrodysostosis has been reported to have neurologic symptoms. We report one further adult case of acrodysostosis with severe neurologic findings including myelopathy and spastic paraparesis due to diffuse spinal stenosis and recurrent deep vein thrombosis possibly caused by neurologic deficits.

We report a 43-year-old woman who had back and neck pain with weakness in the extremities of several years. 1~year before admission to our hospital, she had been treated with a missed diagnosis of sero (-) spondyloarthropathy but had not benefited. She became unable to walk, thereafter she underwent decompression surgery with a diagnosis of degenerative spinal stenosis. She presented at our outpatient department complaining of lowback pain and difficulty walking. She had marked facial and peripheral appearance of acrodysostosis. Spinal MRI revealed extensive spinal stenosis. A diagnosis was made through the genetic investigation, clinical and radiological findings. Spastic paraparesis were detected. There was widespread neuropathic pain. 15 days after admission, she developed swelling and redness of the left lower extremity and the venous doppler ultrasonography showed left acute and right past DVT. We treated DVT with anticoagulant therapy. Gabapentin and Baclofen were initiated for neuropathic pain and spasticity. A conventional rehabilitation program was performed. She left walking with a walker without pain and spasticity.

We would like to remind physicians to be aware of peripheral malformations as signs of skeletal dysplasias and to consider acrodysostosis in the differential diagnosis. Although it is a rare condition, if diagnosed early, possible complications can be treated and outcomes may be improved.