UNRAVELING NIEMANN–PICK TYPE C: A RARE CAUSE OF NEUROPSYCHIATRIC SYMPTOMS

Background: Niemann–Pick type C (NP-C) is a rare autosomal recessive lipid storage disorder caused by NPC1 or NPC2 gene mutations. It presents with varied symptoms, including hepatic, neurological, and psychiatric features, making diagnosis challenging. A 33- Case Presentation: year-old woman with neuropsychiatric symptoms, initially misdiagnosed as schizophrenia, presented with tremors, rigidity, and cerebellar ataxia. Neurological findings, including vertical supranuclear gaze palsy, and genetic testing confirmed NP-C with a pathogenic NPC1 variant. Despite symptomatic treatment, neurological deficits persisted. This case highlights the need for early reco Conclusion: gnition of NP-C in patients with neuropsychiatric symptoms. Routine use of biomarkers and genetic testing can improve diagnostic accuracy and outcomes, particularly in highrisk populations.