A 14-year-old boy with difficulty in walking and behavioural disturbance, recovered from prolonged jaundice recently, has bluish pigmentation over lunula. The next investigation to be done:
Ans: (b) Slit lamp examinationRef: Harrison's Principles of Internal Medicine, 19th edition, Page 2519; Nail Abnormalities: Clues to Systemic Disease Am Fam Physician 2004;69: 1417-24WILSON'S DISEASEAutosomal recessive disorder caused by mutations in ATP7B gene, a membrane bound copper transporting ATPase on chromosome 13Primarily involves liver, brain, kidney and corneaAlso known as hepatolenticular degenerationClinical FeaturesHepatic: Commonly manifest in children of 5 to 6 years of age hepatitis, cirrhosis, hepatic decompensation, associated with hemolytic anemia, hemolysis and liver disease suspect Wilson's diseaseNeurologic: Occurs in early twenties; Dystonia mainly of face, incoordination, tremor, autonomic disturbances, abnormal eye movements, no sensory abnormalities and muscular weaknessPsychiatric: Loss of emotional attachment, depression, hyperactivity, schizophreniaOcular: Sunflower cataracts, Kayser-Fleischer ring in the descemet's membraneRenal: Microscopic hematuria, proximal tubular defects like Fanconi's syndromeInvestigations:Serum ceruloplasmin - lowSerum copper level - total decreased free copper increase24 hours urine cu excretion - >1.6 micromolKF rings (slit lamp exam) - 99% in neurological and psychiatric symptoms 30-50% in hepatic presentationLiver biopsy - >250mg/g of dry tissue gold standard for diagnosisMRI brain - shows damage in basal gangliaNail Findings and Associated Systemic ConditionsNail findingAssociated systemic conditionsShape or growth change ClubbingInflammatory bowel disease, pulmonary malignancy, asbestosis, chronic bronchitis, COPD, cirrhosis, congenital heart disease, endocarditis, atrioventricular malformations, fistulasKoilonychiaIron deficiency anemia, hemochromatosis, Raynaud's disease, SLE, trauma, nail-patella syndromeOnycholysisPsoriasis, infection, hyperthyroidism, sarcoidosis, trauma, amyloidosis, connective tissue disordersPittingPsoriasis, Reiter's syndrome, incontinentia pigmenti, alopecia areataBeau's linesAny severe systemic illness that disrupts nail growth, Raynaud's disease, pemphigus, traumaYellow nailLymphedema, pleural effusion, immunodeficiency, bronchiectasis, sinusitis, rheumatoid arthritis, nephrotic syndrome, thyroiditis, tuberculosis, Raynaud's diseaseColor change Terry's (white) nailsHepatic failure, cirrhosis, diabetes mellitus, CHF, hyperthyroidism, malnutritionAzure lunulaHepatolenticular degeneration (Wilson's disease), silver poisoning, quinacrine therapyHalf-and-half nailsSpecific for renal failureMuehrcke's linesSpecific for hypoalbuminemiaMees' linesArsenic poisoning, Hodgkin's disease, CHF, leprosy, malaria, chemotherapy, carbon monoxide poisoning, other systemic insultsDark longitudinal streaksMelanoma, benign nevus, chemical staining, normal variant in darkly pigmented peopleLongitudinal striationsAlopecia areata, vitiligo, atopic dermatitis, psoriasisSplinter hemorrhageSubacute bacterial endocarditis, SLE, RA, antiphospholipid syndrome, malignancies, oral contraceptive use, pregnancy, psoriasis, traumaTelangiectasiaRheumatoid arthritis, SLE, dermatomyositis, scleroderma
Nail fold capillaroscopy
Slit lamp examination
Biopsy of the pigmented area
Ankle-Brachial Pressure Index
G.I.T.