Abstract

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 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).

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