EC Neurology

A 16-year-old girl, born to non-consanguineous parents, presented with 8 months of speech disturbance, 7 months of upper limb tremors, and 5 months of abnormal limb posturing with gait difficulty. She sought evaluation at a nearby facility for these symptoms, where she was diagnosed with Wilson's disease. One month into treatment, she began experiencing continuous posturing of both upper limbs, characterized by backward extension of both hand, striatal toe, slowness of gait, and started having falls. Laboratory investigations revealed decreased levels of serum ceruloplasmin and copper.

Over time, a wide range of presentations has been documented, including skeletal and hematological manifestations, along with varied combinations of symptoms.

Treatment should be started promptly and carefully monitored, especially for individuals who are presymptomatic at the time of screening. She was initiated on Penicillamine at a dose of 250 mg once daily for 2 weeks, which was then increased to 250 mg twice daily for the subsequent 2 weeks.

Screening first-degree relatives of patient for detecting individuals who may be asymptomatic. Screening primarily involves gathering a medical history focused on previous jaundice, liver issues, and neurological or psychiatric symptoms.

 Keywords: Wilson Disease; Screening; Chelating Agent; Ceruloplasmin; Penicillamine

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