Adult-onset Neuronal Ceroid Lipofuscinosis Presenting with Early Onset Dementia

Neşe Tuncer; Kadriye Ağan; Aynur Mollahasanoğlu; Yasin Bez; Serap Şirvancı; Nalan Turan; Tülin Tanrıdağ

Neşe Tuncer¹, Kadriye Ağan¹, Aynur Mollahasanoğlu¹, Yasin Bez², Serap Şirvancı³, Nalan Turan¹, Tülin Tanrıdağ¹

¹Marmara Üniversitesi Tıp Fakültesi Nöroloji, Anabilim Dalı, İSTANBUL.
²Marmara Üniversitesi Tıp Fakültesi Psikiyatri, Anabilim Dalı, İSTANBUL
³Marmara Üniversitesi Tıp Fakültesi Histoloji, Anabilim Dalı, İSTANBUL

Keywords: neuronal ceroid lipofuscinoses, Kufs disease, dementia, psychiatric symptoms, autosomal dominant

Abstract

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.