The author: Professor Yasser Metwally
INTRODUCTION
December 12, 2012 — Hepatolenticular degeneration is transmitted by autosomal recessive inheritance. The disorder may be caused by a disturbance in the biliary excretion of copper and its incorporation into ceruloplasmin. The defective gene is located on chromosome 13 (1). Symptoms result from the accumulation of copper in liver, brain, and cornea. Clinical Features. Hepatic failure is me prominent clinical feature in children less than 10 years of age, usually without neurologic symptoms or signs. Neurologic manifestations with only minimal symptoms of liver disease are more likely when the onset of symptoms is in the second decade. A single symptom, such as a disturbance of gait or speech, is often the initial feature and may remain unchanged for years (1). Eventually the initial symptom worsens and new features develop: dysarthria (97%), dystonia (65%). dysdiadochokinesia (58%), rigidity (52%), gait and postural abnormalities (42%), tremor (32%), and drooling (23%) (1).
Dystonia of bulbar muscles is responsible for three prominent features of the disease: dysarthria, a fixed pseudosmile (risus sardonicus), and a high-pitched whining noise on inspiration. Psychiatric disturbances precede the neurologic abnormalities in 20 of cases. They range from behavioral disturbances to paranoid psychoses. Dementia is not an early feature of disease. The Kayser-Fleischer ring, a yellow-brown granular deposit at the limbus of the cornea, is a certain indicator of the disease. It is caused by copper deposition in the Descemet membrane and is present in all patients with neurologic manifestations, although it may be absent in children with liver disease alone.
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Video 1. Dystonia of bulbar muscles is responsible for three prominent features of the disease: dysarthria, a fixed pseudosmile (risus sardonicus), and a high-pitched whining noise on inspiration.
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Diagnosis
Hepatolenticular degeneration should be considered in any child with dysarthria and dystonia. The further association of chronic liver disease increases the probability of hepatolenticular degeneration. The diagnosis is confirmed by demonstrating an increased copper content by liver biopsy or by the demonstration of a Kayser Fleischer ring by slit-lamp examination. Ninety-six percent of patients have a serum ceruloplasmin concentration of less than 20 mg/dl, corresponding to less than 56 |jig/dl of ceruloplasmin copper (1).
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Video 2. Wilson disease with neurological involvement.
MRI demonstrates increased signal intensity and decreased size of the caudate, putamen, subcortical white matter, midbrain, and pons. MRI findings do not correlate well with clinical features (1).
References
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Metwally, MYM: Textbook of neuroimaging, A CD-ROM publication, (Metwally, MYM editor) WEB-CD agency for electronic publication, version 13.1 January 2012 [Click to have a look at the home page]
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