Incidence of Proximal Cervical Spine Stenosis in Jeune's Asphyxiating Thoracic Dystrophy

Department of Orthopedics
University of Texas Health Science Center at San Antonio, San Antonio, Texas, USA

PURPOSE:
Jeune's asphyxiating thoracic dystrophy is an autosomal recessive osteochondral dysplasia associated with severe extrinsic restrictive lung disease due to a hypoplastic thorax. Cervical stenosis, in theory, could cause additional respiratory insufficiency from spinal cord compression, but to our knowledge this has never been clinically described in Jeune's syndrome, and the incidence of cervical stenosis in Jeune's syndrome is unknown.

METHODS:
We studied 10 patients with Jeune's syndrome, age 7 months to 17 years, who were referred for expansion thoracoplasty by titanium rib prosthesis. 9 patients were evaluated prospectively and 1 retrospectively. Each prospectively studied patient underwent neurologic examination and had lateral flexion and extension cervical spine radiographs with any abnormality further studied by MRI as indicated. The function of the phrenic nerve was assessed by fluoroscopy of the diaphragm.

RESULTS:
This evaluation showed a 60% incidence of proximal cervical spine abnormalities: 3 patients had mild to moderate asymptomatic C1 stenosis. 3 ventilation dependent patients had severe C1 stenosis: 1 without neurologic signs, another had C1 stenosis with C1-C2 instability with intermittent spinal cord compression, and the third had severe C1 stenosis with hydrocephalus, hypertonicity, and absent diaphragmatic function. The latter 2 patients required C1 decompression and cervical fusion.

CONCLUSION:
Proximal cervical spine stenosis is common in Jeune's syndrome, and may require decompression and fusion when clinically symptomatic.

SIGNIFICANCE:
We recommend that all patients presenting with Jeune's syndrome should undergo both a neurologic examination and screening lateral flexion/extension cervical spine x-rays to assess for cervical spine stenosis and instability, with abnormalities further evaluated with MRI study.