Wilson Disease

Wilson Disease



Jeffrey M. Kaczorowski, MD



Basic Information



Definition


Wilson disease is an autosomal recessive disorder of copper metabolism characterized by degenerative changes in the brain, liver disease, Kayser-Fleischer rings in the cornea, and sometimes, hemolysis.



Synonym



Hepatolenticular degeneration


ICD-9-CM Code



275.1 Disorders of copper metabolism


Epidemiology & Demographics



• Wilson disease affects 1 in 30,000 people.

• It occurs in all races and nationalities.

• It is an autosomal recessive disease with no sex predilection.

• Most cases are transmitted generation to generation, but some are caused by spontaneous mutations.

• Because it is autosomal recessive, most patients have no family history of the disease.

• Symptoms rarely manifest before age 5.

• Patients younger than 20 years tend to present with hepatic manifestations, sometimes with a brisk hemolytic anemia.

• Older individuals tend to have more neurologic and psychiatric manifestations.


Clinical Presentation



History



• Abdominal mass or distention from asymptomatic hepatomegaly

• Jaundice, nausea, vomiting, and right upper quadrant pain associated with acute hepatitis

• Jaundice, edema, malaise, and pallor associated with hepatic failure and hemolytic anemia

• Esophageal bleeding and ascites from portal hypertension

• Neurologic manifestations, particularly those of a movement disorder, such as resting and intention tremors, spasticity, rigidity, chorea, dysphagia, and dysarthria

• Psychiatric disturbances, including syndromes indistinguishable from schizophrenia, manic-depressive disorder, and classic neuroses, as well as more bizarre behavioral disturbances

• Deterioration in school performance and marked behavioral changes


Physical Examination



• Hepatomegaly or hepatosplenomegaly

• Right upper quadrant tenderness

• Ascites

• Progressive renal failure, manifestations of Fanconi’s syndrome detected on urinalysis
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Jul 3, 2016 | Posted by in PEDIATRICS | Comments Off on Wilson Disease

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