CASE 27
By: Dr. Khalid Abdullah AL-Ismail MD and Dr. Nizar
Al-Nakshabandi MD, FRCPC
HISTORY: Withheld.
What are the findings?
Your differential diagnosis and most likely diagnosis?
Do you need to biopsy this abnormality?
FINDINGS:
AP and lateral x-ray of the spine:
· Severe osteoporosis.
Multilevel intervertebral disc calcification: tends to be widespread (and involves nucleus pulposus).
Syndesmophyte formation.
Multilevel disc space narrowing.
AP both hands:
Symmetrical or asymmetrical joint space loss: early osteoarthritis.
Subchondral sclerosis.
Chondrocalcinosis.
DIFFERENTIAL DIAGNOSIS:
Intervertebral disc calcification is seen with numerous conditions.
Degenerative: relatively common and may occur in up to 6% in routine abdominal radiographs in adults.
Postoperative/traumatic.
Ochronosis: very dense central (nucleus pulposus) calcification associated with osteopenia; begins in the lumbar spine and ascends.
Ankylosing spondylitis: associated findings should be visible.
Pseudogout (CPPD): annulus fibrosis calcification.
Haemochromatosis: annulus fibrosis calcification.
Hypervitaminosis D: annulus fibrosis calcification (uncommon manifestation).
Transient intervertebral disc calcification is seen in children, typically in the cervical spine and spontaneously regresses.
Juvenile chronic arthritis (JCA).
Amyloidosis.
Poliomyelitis.
Acromegaly.
Hyperparathyroidism.
DIAGNOSIS:
Ochronosis.
PEARLS AND DISCUSSION:
Ochronosis, also called alkaptonuria is autosomal recessive metabolic disorder.
Urine is very dark.
The defective gene is chromosome 3q21–q23.
Alkaptonuria can present with nightly enuresis.
It occurs equally in both sexes.
It occurs at birth and is diagnosed by discoloration of the diapers. However, 25% of the patient’s do not have urine staining.
Patients with alkaptonuria can have a normal lifespan. However, can have debilitating arthritis, cardiovascular compromise, ochronotic skin alterations will occur. Chronic kidney disease as well.
Some studies show that treatment may be possible with a Q-switched alexandrite (755 nm) laser.
REFERENCES
Jacobson JA, Girish G, Jiang Y et-al. Radiographic evaluation of arthritis: degenerative joint disease and variations. Radiology. 2008;248 (3): 737-47. doi:10.1148/radiol.2483062112 -
Bangert BA, Modic MT, Ross JS et-al. Hyperintense disks on T1-weighted MR images: correlation with calcification. Radiology. 1995;195 (2): 437-43.
Manoj kumar RV, Rajasekaran S. Spontaneous tendon ruptures in alkaptonuria. J Bone Joint Surg Br. 2003;85 (6): 883-6.
