ABSTRACT
Wilson disease is a rare autosomal recessive inherited disorder of copper metabolism. The condition is characterized by excessive deposition of copper in the liver, brain, and other tissues. The major physiologic aberration is excessive absorption of copper from the small intestine and decreased excretion of copper by the liver. The genetic defect, localized to chromosome arm l3q, has been shown to affect the copper-transporting adenosine triphosphatase [ATPase] gene [ATP7B] in the liver. Patients with Wilson disease usually present with liver disease during the first decade of life or with neuropsychiatric illness during the third decade. The diagnosis is made by measurement of serum ceruloplasmin, urinary copper excretion, and hepatic copper content, as well as the detection of Kayser-Fleischer rings. Wilson's disease requires lifelong treatment. If the disorder is detected early and treated correctly, a person with Wilson's disease can enjoy completely normal health. Or hepatolenticular degeneration is a neurodegenerative disease of copper metabolism. In 1912, Wilson first described it as a familial disorder associated with neurological symptoms and cirrhosis. In 1956, Walshe first treated patients with the chelating agent penicillamine. Neurological signs:, Parkinsonian symptoms-Rigidity, bradykinesia. Dysarthria Tremor at rest or with action Dystonia mainly of the face Dysdiadochokinesia Poor handwriting, Incoordination, Abnormal eye movements. Psychiatric signs:, Hyperkinetic behavior Irritability or anger Emotional lability Psychosis Mania Difficulty concentrating Abnormal behavior Personality changes Depression Schizophrenia. Skeletal abnormalities Osteoporosis Osteomalacia Chondrocalcinosis Osteoarthritis, Joint hypermobility Ophthalmic findings:, Kayser-FIeischer rings are greenish-yellow or brown rings seen at the lirnbus of the cornea. They are best seen by slit-lamp examination and usually progress from just the superior pole to both the superior and inferior poles and then finally to a full circle. Sunflower cataracts are brilliantly multicolored and are visible only by slit-lamp examination. They do not impair vision. Other less common findings may include exotropic strabismus, optic neuritis or optic disc pallor, or night blindness. Other physical findings:Azure lunulae of the fingernails. Arthropathy. The study has been done in Aleppo University hospital and Alkindy hospital between 2001-2004. The ale cases were 16 cases. There was an increase in cases diagnosed in Idleb and its country because of consanguinity. Wilson disease is more common in male [62.25%]. Hepatic disease is the most common initial manifestation in children [68.25%]. Three cases has been discovered by screening tests. Liver symptoms was noticed in 81.25% of cases and neurological symptoms in 12.5%. Jaundice was the most common symptom [62.5%], bleeding in 25%, musculoskeletal symptoms in 12.5%. Hepatomegaly is the most common sign in 50%, spleenomegaly in 43.75%. Neurological signes in 12.25% and tremor was the most common sign. Kayser-Fleisher ring are observed in 100% of individuals with neurological symptomes, and in 84.6%of those with hepatic symptoms Sunflower cataracts are observed in 12.5% of cases. Low serum cereloplasmin level is observed in 93.75%. Low serum copper level is noticed in 87.5%. Increasing urinary copper level in[100%] of cases and the values between [151-681]mkg/24h. Low serum protein in 40% of cases. Increasing gammaglobulin levels in [60%] of cases. There was disturbance in liver function in 87.5% [prothrombine time prolongation in 87.5%]. Increasing serum bilirubin level is found in 75%. Low hemoglubine value is found in 56.25%. Nitropenia in one case also thrombocytopenia in the same one There was disturbance in kidney function in two cases [12.5%]. Proteinuria in 50%, hematuria in 37.5. Penicillamin has been used in treatment in 81.25%. The initial dose was between 105-19 Rapidly progressive liver failure occurred in 3 cases and death was found in 25% of cases Consanguinity is observed in 68.75%