Transcranial Sonographic Findings in Wilson Disease

A Case Study on Wilson Disease

“…In addition, “atrophy of the cortex and the cerebral white matter” has been noted in numerous studies. 6 Neurologic symptoms can vary widely but often present as “tremor, incoordination, dystonia, rigidity, difficulty with fine motor movements, and dysarthria.” Common psychiatric disturbances “range from depression, including suicide attempts, to temper tantrums, delusions, sexual exhibitionism, hyperkinetic behavior, and paranoia.” 3 Another clinical sign of Wilson disease is the formation of Kayser-Fleischer rings in the eyes, which are deposits of copper around the cornea of the eye. These rings may appear as red, bright green, blue, yellow, or brown.…”

“…In addition, "atrophy of the cortex and the cerebral white matter" has been noted in numerous studies. 6 Neurologic symptoms can vary widely but often present as "tremor, incoordination, dystonia, rigidity, difficulty with fine motor movements, and dysarthria." Common psychiatric disturbances "range from depression, including suicide attempts, to temper tantrums, delusions, sexual exhibitionism, hyperkinetic behavior, and paranoia."…”

“…Transcranial sonography demonstrates increased echogenicity within structures related to the basal ganglia. 6,10 Although there are many clinical signs and symptoms associated with Wilson disease, none of these are diagnostic in and of themselves; it usually takes a combination of these manifestations to render an accurate diagnosis. The gold standard for diagnosis is a liver biopsy that demonstrates elevated copper content.…”

Transcranial Sonography of Basal Ganglia Calcifications in Fahr Disease

“…Transcranial sonography is a very diffuse, relatively low‐cost, noninvasive imaging technique that finds application not only in cerebrovascular diseases but also in several other neurologic conditions, such as brain parenchymal imaging in movement disorders, when the temporal bone window is adequate for the investigation. Transcranial sonography can indeed reveal basal ganglia degeneration and altered echogenicity of the substantia nigra even in early Parkinson disease 2 , 3 but also in other degenerative disorders such as Wilson disease 4 . To our knowledge, a well‐documented report of transcranial sonography in Fahr disease in which calcifications of the basal ganglia (which cause hyperechogenicity on sonography) could be easily identified has not been published previously.…”

“…Neuroimaging techniques, such as cerebral computed tomography (CT) and magnetic resonance imaging (MRI), when correlated with a typical clinical history and sometimes with phosphocalcic assessment (ie, hypocalcemia and hyperphosphoremia in cases of bilateral striopallidodentate calcinosis secondary to hypoparathyroidism), are highly suggestive of bilateral striopallidodentate calcinosis: typical bilateral intracranial calcinosis can be identified. Recently, transcranial sonography has been recognized as a reliable and sensitive technique for the detection of basal ganglia abnormalities in several movement disorders, such as Parkinsonism, corticobasal degeneration, Wilson disease, and other extrapyramidal disorders 2 – 4 . To our knowledge, no cases of basal ganglia alterations in Fahr syndrome as shown with this technology have been reported previously.…”