Adult-onset neuronal ceroid lipofuscinosis misdiagnosed as autoimmune encephalitis and normal-pressure hydrocephalus: a 10-year case report and literature review

Abstract

Abstract Background: Neuronal ceroid lipofuscinoses (NCLs) are rare, fatal, inherited neurodegenerative disorders characterized by myoclonic epilepsy, cognitive decline, brain atrophy, and retinopathy. The pathogenesis and clinical manifestations of NCL are not well understood and frequently result in misdiagnosis and overtreatment. Case presentation: We present a case of adult-onset NCL (ANCL) that initially presented with refractory epilepsy mimicking autoimmune encephalitis and normal-pressure hydrocephalus. A correct diagnosis was established through biopsy and genetic testing after ten years of observation. Conclusion: Combined with a literature review, we summarize our experience in improving the clinical management of this disease. Improved clinical and imaging insights into ANCL, along with its early consideration in the differential diagnosis, can lead to timely treatment, better management, and the prevention of overtreatment.