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What is your diagnosis? A case of arthritis with tremors
Indian Journal of Rheumatology 2011 June Volume 6, Number 2; pp. 91–92
PG Forum
What is your diagnosis? A case of arthritis with tremors Pandiperumal Sankaranarayanan1*, Rukmangatharajan Sellamuthu2, Rajesh Subramonia pillay3
A 36-year-old male presented with heel pain of 2 years duration followed by pain in both shoulders. He also had lower backache of the mechanical type and neck pain associated with restricted neck movements. He complained of tremors in both hands and involuntary movements of the head and neck. He had a past history of jaundice 12 years ago which lasted for 3 months. He was born of second degree consanguineous marriage with a family history of jaundice. On examination, he had a greenish-brown pigmentation in the superior and inferior limbi and positional tremors involving both hands. Spine examination revealed limitation of cervical and lumbo sacral movements in all planes. The wall to occiput distance was 5 cm and schober’s test was 1.5 cm. Peripheral joint examination showed limitation of abduction and external rotation in both shoulders, with nodular bony
A
D
swelling of both distal and proximal interphalangeal joints. Blood investigations revealed normal hemoglobin, total and differential counts with an ESR of 18 mm/hour. He had a total bilirubin of 0.6 mg/dL, normal transaminases, alkaline phosphatase, with total protein 7.0 g/dL, albumin 3.3 g/dL, and globulin 3.7. Viral markers like HbsAg, anti-HCV and HIV by ELISA were negative. His blood sugars, renal function test, and lipid profile were normal. Ultrasonographic features were of enlarged liver with diffuse increased echoes. Portal venous Doppler study was normal with no evidence of portal hypertension. Upper Gastrointestinal endoscopy showed evidence of distal esophagitis and antral gastritis. His Echo cardiogram and CT Brain were normal. His X-rays revealed osteopenia, proliferative periosteal overgrowth in the ulna, small bones of the hand, and femoral head (Figure 1).
C
B
E
Figure 1 (A) Anterior longitudinal ligament calcification. (B) Fluffy periosteal reaction of forearm bone. (C) KF ring along inferior limbus. Fluffy excrescences (arrows) in (D) femur and pelvis and (E) carpal and metacarpal bones. 1
DM resident, 2Reader, Department of Rheumatology, Madras Medical College, Chennai, 3Consultant Rheumatologist, KIMS, Kerala. Correspondence: Dr. Pandiperumal Sankaranarayanan, email: [email protected]
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Indian Journal of Rheumatology 2011 June; Vol. 6, No. 2
There were no features of chondrocalcinosis and the sacroiliac joints were normal. What is your diagnosis?
ANSWER He had a slit lamp examination of the eyes which revealed Kayser–Fleischer ring. Serum ceruloplasmin was 13 mg% (20%–60%), serum copper 92 μg/dL (75–160), and 24-hour urine copper excretion was 49 μg/dL (normal 50 μg/dL). Hence he was diagnosed as a case of Wilson’s arthropathy. Our patient had generalized loss of bone density most evident in spine, hands, and feet. Osteopenia is described in 25%–50% of Wilson’s disease, which probably results from the loss of calcium and phosphorus in the urine.1 Furthermore, the hepatic dysfunction associated with cirrhosis may produce osteoporosis. The finding of periostitis causing a fluffy irregular appearance as in our patient may be periosteal bone formation at osseous sites of tendon and ligament attachment. It is possible that some of these abnormalities may result from a direct toxic action of copper on the chondroblasts at the epiphyses and in the intra-articular cartilages.2 Cartilage calcification was first observed by Bouddin and associates, and Mccarty et al. have shown the inhibition of pyrophosphatase by copper ions in vitro, which explains the accumulation of CPPD crystals.3 The spinal abnormalities can be osteophytes, disc space narrowing, squaring of vertebrae, and Schmorl’s nodes that predominate in middorsal,
Sankaranarayanan et al.
lumbar spaces and may be associated with stiffness and backache. Although the articular abnormalities in Wilson’s disease may be confused with degenerative joint disease, close inspection of the radiographs allows differentiation of these disorders. The distribution of articular abnormality in Wilson’s disease includes a predilection for the small joints of the hands and wrists, particularly the metacarpophalangeal articulations; this distribution is not observed in osteoarthritis. The bony fragmentation and irregular osseous surfaces in Wilson’s disease differ from the findings in degenerative joint disease, although both disorders are associated with joint space narrowing, subchondral bony eburnation, and cyst formation.4
REFERENCES 1. 2.
3.
4.
Bearn AG, Yu TF, Gutman ABY. Renal function in Wilson’s disease. J Clin Invest 1957; 36: 1107–14. Golding DN, Walshe JM. Arthropathy of Wilson’s disease. Study of clinical and radiological features in 32 patients. Ann Rheum Dis 1977; 36: 99–111. Mccarthy DJ Jr, Pepe PR, Solomon SD, et al. Inhibition of human erythrocyte pyrophosphatase activity by calcium, cupric and ferrous ions. Arth Rheum 1970; 13: 336. Resnick D. Haemochromatosis and Wilson’s Disease. In: Diagnosis of Bone and Joint Disorders. Resnick D (ed). 4th edition. Philadelphia: Saunders, 2002: 4057–70.
PG Forum
What is your diagnosis? A case of arthritis with tremors Pandiperumal Sankaranarayanan1*, Rukmangatharajan Sellamuthu2, Rajesh Subramonia pillay3
A 36-year-old male presented with heel pain of 2 years duration followed by pain in both shoulders. He also had lower backache of the mechanical type and neck pain associated with restricted neck movements. He complained of tremors in both hands and involuntary movements of the head and neck. He had a past history of jaundice 12 years ago which lasted for 3 months. He was born of second degree consanguineous marriage with a family history of jaundice. On examination, he had a greenish-brown pigmentation in the superior and inferior limbi and positional tremors involving both hands. Spine examination revealed limitation of cervical and lumbo sacral movements in all planes. The wall to occiput distance was 5 cm and schober’s test was 1.5 cm. Peripheral joint examination showed limitation of abduction and external rotation in both shoulders, with nodular bony
A
D
swelling of both distal and proximal interphalangeal joints. Blood investigations revealed normal hemoglobin, total and differential counts with an ESR of 18 mm/hour. He had a total bilirubin of 0.6 mg/dL, normal transaminases, alkaline phosphatase, with total protein 7.0 g/dL, albumin 3.3 g/dL, and globulin 3.7. Viral markers like HbsAg, anti-HCV and HIV by ELISA were negative. His blood sugars, renal function test, and lipid profile were normal. Ultrasonographic features were of enlarged liver with diffuse increased echoes. Portal venous Doppler study was normal with no evidence of portal hypertension. Upper Gastrointestinal endoscopy showed evidence of distal esophagitis and antral gastritis. His Echo cardiogram and CT Brain were normal. His X-rays revealed osteopenia, proliferative periosteal overgrowth in the ulna, small bones of the hand, and femoral head (Figure 1).
C
B
E
Figure 1 (A) Anterior longitudinal ligament calcification. (B) Fluffy periosteal reaction of forearm bone. (C) KF ring along inferior limbus. Fluffy excrescences (arrows) in (D) femur and pelvis and (E) carpal and metacarpal bones. 1
DM resident, 2Reader, Department of Rheumatology, Madras Medical College, Chennai, 3Consultant Rheumatologist, KIMS, Kerala. Correspondence: Dr. Pandiperumal Sankaranarayanan, email: [email protected]
92
Indian Journal of Rheumatology 2011 June; Vol. 6, No. 2
There were no features of chondrocalcinosis and the sacroiliac joints were normal. What is your diagnosis?
ANSWER He had a slit lamp examination of the eyes which revealed Kayser–Fleischer ring. Serum ceruloplasmin was 13 mg% (20%–60%), serum copper 92 μg/dL (75–160), and 24-hour urine copper excretion was 49 μg/dL (normal 50 μg/dL). Hence he was diagnosed as a case of Wilson’s arthropathy. Our patient had generalized loss of bone density most evident in spine, hands, and feet. Osteopenia is described in 25%–50% of Wilson’s disease, which probably results from the loss of calcium and phosphorus in the urine.1 Furthermore, the hepatic dysfunction associated with cirrhosis may produce osteoporosis. The finding of periostitis causing a fluffy irregular appearance as in our patient may be periosteal bone formation at osseous sites of tendon and ligament attachment. It is possible that some of these abnormalities may result from a direct toxic action of copper on the chondroblasts at the epiphyses and in the intra-articular cartilages.2 Cartilage calcification was first observed by Bouddin and associates, and Mccarty et al. have shown the inhibition of pyrophosphatase by copper ions in vitro, which explains the accumulation of CPPD crystals.3 The spinal abnormalities can be osteophytes, disc space narrowing, squaring of vertebrae, and Schmorl’s nodes that predominate in middorsal,
Sankaranarayanan et al.
lumbar spaces and may be associated with stiffness and backache. Although the articular abnormalities in Wilson’s disease may be confused with degenerative joint disease, close inspection of the radiographs allows differentiation of these disorders. The distribution of articular abnormality in Wilson’s disease includes a predilection for the small joints of the hands and wrists, particularly the metacarpophalangeal articulations; this distribution is not observed in osteoarthritis. The bony fragmentation and irregular osseous surfaces in Wilson’s disease differ from the findings in degenerative joint disease, although both disorders are associated with joint space narrowing, subchondral bony eburnation, and cyst formation.4
REFERENCES 1. 2.
3.
4.
Bearn AG, Yu TF, Gutman ABY. Renal function in Wilson’s disease. J Clin Invest 1957; 36: 1107–14. Golding DN, Walshe JM. Arthropathy of Wilson’s disease. Study of clinical and radiological features in 32 patients. Ann Rheum Dis 1977; 36: 99–111. Mccarthy DJ Jr, Pepe PR, Solomon SD, et al. Inhibition of human erythrocyte pyrophosphatase activity by calcium, cupric and ferrous ions. Arth Rheum 1970; 13: 336. Resnick D. Haemochromatosis and Wilson’s Disease. In: Diagnosis of Bone and Joint Disorders. Resnick D (ed). 4th edition. Philadelphia: Saunders, 2002: 4057–70.