Neurological abnormalities in Wilson's disease are reversible.

Area of Science:

• Neurology
• Pediatrics
• Genetics

Background:

• Wilson's disease is a rare genetic disorder of copper metabolism.
• Neurological presentation is common and can lead to significant disability.

Purpose of the Study:

• To evaluate the therapeutic responses in children with Wilson's disease presenting with neurological symptoms.
• To assess the reversibility of neurological abnormalities following treatment.

Main Methods:

• Retrospective evaluation of seven pediatric patients with Wilson's disease.
• Assessment of neurological, cognitive, and behavioral abnormalities.
• Treatment with penicillamine or triethylene tetramine (TETA).
• Brain imaging (CT) and electroencephalography (EEG) were utilized.

Main Results:

• Neurological abnormalities included intellectual deterioration, conduct disorder, dystonia, choreoathetosis, seizures, and hemiparesis.
• Six children experienced lethargy and weight loss; two had fatal liver disease.
• Brain CT revealed cerebral atrophy and basal ganglia abnormalities, which resolved in one patient post-treatment.
• All neurological abnormalities were reversible with chelation therapy.

Conclusions:

• Penicillamine and TETA are effective in treating neurological Wilson's disease in children.
• Prompt treatment can reverse neurological deficits, highlighting the importance of early diagnosis and intervention.