Pathological fractures as an initial presentation of Wilson's disease

Abstract

Wilson's disease (WD) has varied phenotypic presentations. Here we report the case of a 16-year-old boy who presented with a history of multiple pathological fractures, severe joint deformities, hepatic dysfunction, cognitive decline and limb dystonia. On examination, the patient had pinched out facies, pallor and leukonychia totalis. Bilateral Kayser Fleischer (KF) ring was present. Musculoskeletal examination revealed pectus carinatum, bilateral genu valgus and gun-stock deformity of the left elbow joint. Splenomegaly and moderate ascites were present. Neurological examination revealed mild rigidity and intermittent episodes of dystonic posturing of all four limbs. On this basis a diagnosis of WD with dystonia with cirrhosis of liver with portal hypertension with renal tubular acidosis with renal rickets was thought likely. Investigations confirmed the diagnosis. The patient was started on treatment but he did not improve. He suffered aspiration pneumonia during his hospital stay and succumbed to the illness.

A Neglected Case of Wilson’s Disease Presenting as Symptomatic Urolithiasis and Proteinuria

“…Although musculoskeletal features may be well-developed in Wilson's disease, this has limited consideration. Accepted musculoskeletal manifestations of Wilson's disease include the following: bone demineralization (14), genu varum (15), scoliosis (16), synovitis (17), osteochondritis dissecans (18), osteomalacia and rickets (19,20), avascular necrosis of femoral head (21), early osteoarthritis (17), spontaneous fracture (21)(22)(23), heterotopic ossification (24), osteoporosis (25), and epiphyseal dysplasia (26).…”

Pathological Fracture of Femoral Neck Leading to a Diagnosis of Wilson's Disease: A Case Report and Review of Literature

“…Relatively well-known musculoskeletal manifestations of WD include synovitis,[ 9 ] early osteoarthritis,[ 9 ] osteoporosis,[ 10 ] rickets and osteomalacia. [ 11 ] Lesser known manifestations include spontaneous fracture,[ 12 ] heterotopic ossification,[ 13 ] scoliosis,[ 14 ] epiphyseal dysplasia,[ 14 ] genu varum,[ 15 ] avascular necrosis of femoral head [ 15 ] and osteochondritis dissecans. [ 16 ]…”

“…The patient already had subtle neurological signs of WD, however it was diagnosed while investigating the cause of osteoporosis in the patient. Verma et al [ 12 ] reported a case of a 16-years-old male presenting with pathological fracture of the humerus along with full-blown hepatic, neuropsychiatric and ophthalmic features of WD.…”

Leukonychia: What Can White Nails Tell Us?

“…Anemia [ 18 ], ischemic cardiomyopathy [ 153 ], kidney recipients taking immunosuppressives [ 28 , 84 ], hepatitis C [ 154 ], Wilson’s disease [ 155 ]…”