A case of Niemann-Pick disease type C misdiagnosed as Wilson disease presenting with neuropsychiatric symptoms

Niemann-Pick disease type C (NPC) is a rare autosomal recessive disorder primarily characterized by hepatosplenomegaly and neurological dysfunction. This article presents the case of a 35-year-old female patient who exhibited a progressive tremor of both hands and motor clumsiness for 23 years, accompanied by psychiatric abnormalities for 14 years. Her clinical presention first manifested at the age of 12, at which point she was misdiagnosed with Wilson disease due to detected abnormalities in copper metabolism and splenomegaly. Treatment with penicillamine and benzhexol resulted in symptomatic improvement. At the age of 21, the patient developed psychiatric symptoms, which were managed with penicillamine and risperidone, leading to symptom control. Upon current admission, a comprehensive evaluation revealed neuropsychiatric symptoms, splenomegaly, and abnormalities in copper metabolism. However, no Kayser-Fleischer rings were observed, and cranial MRI did not show the characteristic changes associated with Wilson disease. Ultimately, a diagnosis of NPC was confirmed through genetic testing and bone marrow examination. The patient was subsequently treated with miglustat capsules and risperidone, maintaining clinical stability over a one-year follow-up period. This case highlights the critical importance of including NPC in a differential diagnosis for patients exhibiting neuropsychiatric symptoms accompanied by splenomegaly, to avoid potential misdiagnosis.