Backache due to alkaptonuria in a middle aged man
Abdul Rehman Arshad1, Muhammad Younus Awan
1Department of Internal Medicine, 1 Mountain Medical Battalion, Bagh, Azad Kashmir.
Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
|December 6, 2013
Summary
Alkaptonuria, a rare genetic disorder, can cause chronic backache and spinal stiffness. This case highlights its characteristic symptoms and radiographic findings, emphasizing the need for early diagnosis.
Area of Science:
- Medical Genetics
- Rare Diseases
- Skeletal Disorders
Background:
- Alkaptonuria (AKU) is an inherited metabolic disorder.
- It results from a deficiency in the enzyme homogentisate 1,2-dioxygenase (HGD).
- This deficiency leads to the accumulation of homogentisic acid (HGA), causing ochronosis and tissue damage.
Observation:
- A 55-year-old male presented with 15 years of spinal pain and stiffness.
- He exhibited bluish-black facial and hand discoloration, kyphosis, and reduced spinal mobility.
- Ocular findings included Osler spots on the sclera; other joints were unaffected.
Findings:
- Radiographic examination revealed calcification of the intervertebral discs, a hallmark of spinal ochronosis.
- An asymptomatic renal stone was incidentally detected.
- No cardiac valvular involvement was noted in this patient.
Implications:
- This case underscores Alkaptonuria as a significant, albeit rare, cause of chronic back pain.
- Early recognition of ochronosis symptoms and radiographic signs is crucial for timely diagnosis.
- Management focuses on symptomatic relief and monitoring for complications like renal stones.
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