Duchenne muscular dystrophy

Case contributed by Kathryn Kinser


Tracheostomy dependent male with acute respiratory distress.

Patient Data

Age: 20 years
Gender: Male

The tip of the tracheostomy tube terminates at T3 level, appears to be well above the carina which is not well evident on this exam.

Low lung volumes and poor inspiratory effort largely exaggerate the cardiomediastinal silhouette and the central pulmonary vascularity and limits evaluation for cardiomegaly and volume overload.

Streaky, bandlike and airspace opacities in the right perihilar region with some air bronchogram may be due to atelectasis and/or pneumonia versus aspiration. No definite pleural effusion or pneumothorax.

Posterior spinal fusion Harrington rods are seen in place without evidence of hardware failure or loosening.

The visualized humeral shaft is thin and gracile with diffuse muscular atrophy. Both clavicles and the ribs are also thin with diffuse atrophy of the soft tissues in patient, most compatible with Duchenne muscular dystrophy.

Nonspecific bowel gas pattern is noted in the visualized upper abdomen.

Case Discussion

Duchenne muscular dystrophy (DMD) is an X-linked, progressive muscular disorder that is usually diagnosed in males around age 3-5 years.

The most common initial presentation is a male who has gradually progressive difficulty standing up from a seated position secondary to proximal thigh muscles weakness. By age 12 years, patients are usually wheelchair dependent and may have respiratory and cardiac muscle weakness. Severe respiratory compromise leads to tracheostomy dependence.

In addition to muscle tissue, bone development is negatively affected in DMD for many proposed reasons including decreased muscle tensile strength, reduced ambulation, disruption in calcium homeostasis, and frequent corticosteroid use. Scoliosis and fractures are common in this population due to profound muscular weakness.

This case was submitted with supervision and input from:

Soni C. Chawla, M.D.
Associate Professor
Department of Radiological Sciences
David Geffen School of Medicine at UCLA
Olive View - UCLA Medical Center

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