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1. OCHRONOSIS - A LIMITED CASE
SERIES IN ORTHOPEDICS
Dr. SHEKHER MISRA (PG resident)
Guided by:
Dr. S.M HASHIM (Prof.), Dr. RAGHAVENDRA S (Prof.),
Dr. MAHESH KUMAR N.B (Prof.) and Dr. ROHAN VISHWANATH (Asst. Prof.)
DEPARTMENT OF ORTHOPEDICS
RAJARAJESWARI MEDICAL COLLEGE, BANGALURU

2. INTRODUCTION
 Alkaptonuria (AKU) is an inherited autosomal recessive disorder
defect mapped on chromosome 4q23 that renders the enzyme
homogentisate 1,2 dioxygenase inactive.1
 As a result, homogentisic acid (HGA) gets accumulated in
various bodily tissues.1
 Ochronosis is a musculoskeletal manifestation of alkaptonuria.
 It occurs when degenerative changes affect joint cartilage due to
black pigment deposition in connective tissues following
homogentisic acid polymerization.2,3

3. INTRODUCTION
 Patients are typically asymptomatic in childhood.4
 However, during the second to third decade of life, blue or
brown pigmentation within the ear cartilage or the sclera;
stones (renal, prostatic, gall bladder, and salivary glands); back
or peripheral joint pain; rupture of the tendons, muscles, or
ligaments; renal failure; osteoporosis; or fractures are seen in
patients. 5
 Here, we report three cases of ochronosis presented to
department of Orthopaedics at Rajarajeswari Medical College
and Hospital, Bangalore.

4. CASE SCENARIO

5. HISTORY
Case I Case II Case III
• 32-year-old male
• c/0 lower back pain radiating
to posterolateral aspect of
bilateral lower limb since 3
years.
• Pain was progressive in
nature.
• Pain aggravated on walking,
bending forward, sitting and
relieved mildly on lying
supine, taking rest.
• 60-year-old female
• h/0 fall at home
• Pain over left hip joint
sudden in onset and
progressive in nature.
• Patient was not able to bear
weight on the affected limb
• 37-year-old male
• c/o of lower back pain since
4 years radiating to left
lower limb.
• Pain was insidious in onset
and progressive in nature
which aggravated on
movement and relieved on
rest.
• Daily activities affected.

6. CLINICAL FINDINGS
Case I Case II Case III
On
examination
• Tenderness present
over the lumbar spine
• Mild Para spinal
tenderness present
• No neurological deficit
• Diffuse swelling over left
Hip joint and tenderness
over the scarpa’s triangle
• Attitude of the affected
lower limb was in flexion,
abduction and external
rotation with lateral
border of the foot
touching the couch.
• Tenderness present over
the lumbar spine
• Mild Para spinal
tenderness present
• Neurological deficit
ROM • Flexion, extension
painful and restricted
• Restricted and painful at
left hip joint
Flexion, extension painful
and restricted

7. MRI FINDINGS
Case I Case II Case III
• at L4-L5 disc levels: diffused
disc bulge causing anterior
thecal sac indentation with
bilateral mild neural
foraminal narrowing causing
indentation on exiting nerve
roots (left > right)
not available • at L3-L4, L4-L5 disc levels:
diffused disc bulge causing
anterior thecal sac
indentation with bilateral
mild neural foraminal
narrowing causing
indentation on exiting nerve
roots (left > right)

8. RADIOGRAPHS (CASE I)
Pre- operative Post-operative

9. RADIOGRAPHS (CASE II)
Pre- operative Post-operative

10. RADIOGRAPHS (CASE III)
Pre- operative Post-operative

11. LABORATORY FINDINGS
 Laboratory analyses included
 CBC, ESR, C-reactive protein
 blood sugar
 Urea, Creatinine, Uric acid
 LFT
 TFT
 Serum electrolytes
 25-OH vitamin D, vitamin B12
 urine routine
 All tests were within normal
ranges
 Case I was diagnosed
preoperatively as
Hypothyroid
 Vitamin D levels for all the
three cases were borderline
 Case I-Urinalysis for HGA
level was done and was
found to be high

12. URINE SAMPLE
Case I Case II Case III
Urine sample darkened upon standing

13. DIAGNOSIS AND PROCEDURE DONE
Case I Case II Case III
Diagnosis Known case of alkaptonurea
with ochronosis with L3-L4,
L4-L5, L5-S1 IVDP with newly
diagnosed Hypothyroidism
Fracture of neck of left
femur-Transcervical
Intervertebral disc
prolapse of L3-L4, L4-
L5 and L5-S1 with left
sided radiculopathy and
neurological deficit
Procedure
done
Decompression stabilisation
fixation and fusion at L5-S1
level with pedicle screws
Bipolar Hemiarthroplasty
of Left Hip
Transforaminal Lumbar
Interbody Fusion at L3-
L4 with Fenestration
Discectomy at L5-S1
level

14. INTRAOPERATIVE FINDINGS (CASE I)

15. INTRAOPERATIVE FINDINGS (CASE II)

16. INTRAOPERATIVE FINDINGS (CASE III)

17. DISCUSSION
 Alkaptonuria (AKU) is a very rare condition which progresses with large
joint involvement in the musculoskeletal system which is most affected by
the disease.
 To our knowledge, very few cases are reported in India. In the Indian
subcontinent, actual incidence is still unknown, which could be mainly due
to the lack of a central database and lack of awareness among patients and
clinicians about this condition.
 The diagnosis of AKU is frequently not made until it is identified
intraoperatively during orthopedic surgery, when the affected joint shows
a distinctive bluish-black coloring, due to the disease's rarity and
symptoms that mimic other types of arthritis.

18. DISCUSSION
 In our case series, although case I was a known case of
orchronosis, but diagnosis of ochronosis in case II and III were
only made intraoperatively.The finding of black connective
tissues by orthopaedic surgeon may be the first point of
suspicion for alkaptonuria in those patients.
 Currently, there’s no effective treatment for AKU. However, low
tyrosine and phenylalanine diet, physical therapy, non-steroidal
anti-inflammatory drugs (NSAIDs), and antioxidants have been
recommended.

19. CONCLUSION
 Because of rarity of disease and paucity of clinical symptoms until middle
age, diagnosis of AKU is occasionally made just intraoperatively.
 Our objective in reporting this case series is to highlight the importance of
surveillance in clinical practise for this rare, but important cause of back
and hip pain.
 This also highlights the challenges in diagnosing AKU, emphasizing the
significance of early detection, and clinical evaluation for improved
outcomes.
 Therefore, this case series serves as an opportunity for future trials and
studies aimed at digging deeper into the intricacies of AKU to increase our
understanding and establish comprehensive management plans for
affected individuals.

20. REFERENCES
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arthropathy in siblings with low back pain: a case report. IP Int J Orthop
Rheumatol 2020;6(1):35-38
2. Ranganath LR, Jarvis JC, Gallagher JA. Recent advances in management of
alkaptonuria (invited review; best practice article). J Clin Pathol. 2013;66(5):367–
73.
3. Ranga U, Aiyappan SK, Shanmugam N,Veeraiyan S, et al. Ochronotic
Spondyloarthropathy. J Clin Diagn Res. 2013;7(2):403–4
4. Trivedi DJ, HaridasV. Five Cases of Alkaptonuria AmongTwo Generations of
Single Family in Dharwad, Karnataka (India). Ind J Clin Biochem.
2015;30(4):479–84
5. HaridasVM. Alkaptonuria, a rare cause for low back pain. IJRCI. 2013;1(1):CS5

21. Thank you