Devoted to diagnostic and interventional spine imaging and therapeutics


Excerpta Extraordinaire-A Case of Brachyolmia and Spinal Stenosis 2007

General Spine

Christine P Chao, MD
Leo F. Czervionke, MD, ASSR Member
Daniel F. Broderick, MD, ASSR Member

Excerpta Extraordinaire


A 27 year-old man presented with a 1 year history of progressive bilateral lower extremity pain and numbness radiating from his lower back. He denied upper extremity symptoms, disequilibrium, or any bowel or bladder dysfunction. The patient had been evaluated at an outside facility and told that he had a developmental disorder due to his short stature and that he needed a 10 level decompressive laminectomy. Past medical history was significant for a heart murmur at birth which required no treatment or prophylaxis. Physical examination was unremarkable except for a short stature with a height of 158 cm. The patient had a normal gait and normal upper and lower extremity strength and sensation.

Radiographs of his cervical, thoracic and lumbar spine demonstrated universal platyspondyly of the vertebrae with marked extension of the lateral margins of the vertebral bodies beyond the pedicles on the AP view and a rectangular and elongated configuration on the lateral view. Magnetic resonance (MR) imaging further revealed diffuse irregular, narrowed intervertebral spaces, broad-based disc bulging and shortened pedicles. The constellation of abnormal findings resulted in multilevel spinal and neural foraminal stenoses.

The main differential diagnoses included brachyolmia, mucopolysaccharidosis, spondyloepiphyseal dysplasia, and severe Scheuermann disease. The patient carried a presumptive diagnosis of brachyolmia, a word derived from the Greek word meaning "short trunk", as he exhibited the typical radiographic and MR imaging appearances of this rare bone dysplasia and no stigmata of the other differential diagnoses.

Brachyolmia is characterized clinically by childhood onset of a short trunk resulting from universal platyspondyly, without significant involvement of epiphyses, metaphyses, or diaphyses of the long bones. The four main types of brachyolmia include 3 autosomal recessive types (Hobaek, Toledo and Maroteaux) and an unnamed autosomal dominant type. Additionally, there are individual cases which elude classification. Prognosis varies amongst the subtypes, with spinal stenosis previously reported as a complication of the Hobaek type, felt to be the subtype that our patient most likely exhibits. Although there is no specific treatment for any of the brachyolmias, our patient is considering decompressive spinal surgery for palliation of his symptoms.

This case of a 27 year-old man with presumed brachyolmia complicated by spinal stenosis provides an excellent opportunity to review the characteristic radiographic and MR findings in this rare disease.