Tuesday, 2 April 2013

Clinical Features in Patients with Wilson Disease

Hepatic
·         Asymptomatic hepatomegaly
·         Isolated splenomegaly
·         Persistently elevated serum aminotransferase activity (AST, ALT)
·         Fatty liver
·         Acute hepatitis
·         Resembling autoimmune hepatitis
·         Cirrhosis: compensated or decompensated
·         Acute liver failure
Neurological
·         Movement disorders (tremor, involuntary movements)
·         Drooling, dysarthria
·         Rigid dystonia
·         Pseudobulbar palsy
·         Dysautonomia
·         Migraine headaches
·         Insomnia
·         Seizures
Psychiatric
·         Depression
·         Neurotic behaviours
·         Personality changes
·         Psychosis
Other Systems
·         Ocular: Kayser-Fleischer rings, sunflower cataracts
·         Cutaneous: lunulae ceruleae
·         Renal abnormalities: aminoaciduria and nephrolithiasis
·         Skeletal abnormalities: premature osteoporosis and arthritis
·         Cardiomyopathy, dysrhythmias
·         Pancreatitis
·         Hypoparathyroidism
·         Menstrual irregularities; infertility, repeated miscarriages
Image Courtesy: www.eurowilson.org
Text Reference: http://www.wilsonsdisease.org

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