Spondyloepiphyseal dysplasia congenita

Case contributed by Yaïr Glick
Diagnosis certain

Presentation

Left lower back pain - obstructing urinary calculus?

Patient Data

Age: 35 years
Gender: Female

No evidence of urinary calculi, collecting systems are not dilated.

Mild platyspondyly, irregular vertebral endplates.
Bilateral prosthetic hip joints.

Hand x rays, 2 years earlier

x-ray

Wrist contusion 2 years earlier - wrist-hand series shows an old fracture of the radial stylus. X-rays are normal otherwise.

Of note, the carpals, metacarpals and phalanges are all of normal appearance (i.e. not shortened).

Case Discussion

History of renal calculi, left low back pain. In light of the negative findings on CT, the pain was thought to be probably musculoskeletal/spinal in origin.

Known case of spondyloepiphyseal dysplasia. Had undergone a bilateral total hip arthroplasty (THA) at the age of 19 years.

Report of MRI hips (study itself not available) done several years prior to THA: "Bilateral absence of femoral head epiphyses, with flattening, irregularity and cartilaginous involvement. Normal appearance of the acetabula."

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