Wilson’s disease causing acute-onset of optic neuropathy in a child: a case report and literature review

Abstract

Introduction and importance: Wilson disease (WD) is a rare genetic disorder with a wide range of clinical manifestations, including hepatic, neurologic, and psychiatric symptoms. To date, there have been five cases (including our case) representing optic neuropathy caused by WD. Case presentation: A 15-year-old female presented to the emergency department with neurological symptoms. The patient exhibited confusion but maintained stable vital signs, and physical examinations were all normal. Abdominal ultrasound and axial brain computed tomography (CT) scan were both normal. The patient’s neurological condition and laboratory test results suggested diagnoses of WD. After 2 days, the patient experienced sudden bilateral blindness. The patient’s condition deteriorated rapidly, and was subsequently referred to the ICU. Clinical discussion: The incidence of the disease varies by ethnicity, with a higher prevalence in Eastern Asian populations. Diagnosis can be challenging due to the diverse presentation of symptoms, but it is important to consider WD as a differential diagnosis in patients presenting with acute hepatitis and/or neurologic abnormalities. Conclusion: Healthcare professionals should be educated about the diverse clinical manifestations of WD to help in early recognition and diagnosis of the disease.