Adult-onset Neuronal Ceroid Lipofuscinosis Presenting with Early Onset Dementia

Scientific background: The adult onset form of neuronal ceroid lipofuscinosis (Kufs Disease) is a rare and poorly characterized entity of metabolic neurodegenerative disease.Objectives: We report a patient with psychiatric symptoms and progressive cognitive decline. We were able to show granular osmiophilic deposits in myelin sheath and fingerprint profile in Schwann celi cytoplasm indicating the presence of adult neuronal ceroid lipofuscinosis.Discussion: Kufs disease should be considered in the differential diagnosis of early onset, progressive cognitive decline with psychiatric symptoms, seizures and motor disturbances especially in patients with positive family history.