Background:
Acrodysostosis (ACRO) is a rare disorder of peripheral bone development which can be either sporadic or inherited with mutations in the PRKAR1A or PDE4D genes. The resulting phenotypical characteristics are variable and overlap with other dysostosis conditions, making diagnosis difficult without genotyping. Vertebral malformations have been reported with ACRO resulting in slowly progressive spinal cord compression leading to radiculopathy or myelopathy.
Case description:
A 19-year-old female diagnosed with ACRO presented with progressively worsening lower extremity paraparesis, sensory loss, and urinary retention; she was wheelchair-bound. A magnetic resonance imaging showed cord signal change at the T2/T3 levels with accompanying diffuse cord edema between T6-T8. Six months following a T2/T3 and T6/T7 laminectomy, the patient's symptoms improved, but she still required a wheelchair.
Conclusion:
Patients with ACRO should be regularly monitored for cord compression to allow for early surgical decompression to prevent long-term, devasting neurological compromise.