Author/Authors :
Gomes Lima Júnior, Antonio Antonio Prudente Hospital, Fortaleza, Brazil , Pinheiro de Abreu, Nina Maia Antonio Prudente Hospital, Fortaleza, Brazil , Carmo Rodrigues, João Paulo Antonio Prudente Hospital, Fortaleza, Brazil , Vinícius Buratti Leal, Marcus Antonio Prudente Hospital, Fortaleza, Brazil , Sampaio Clarindo, Anielly Antonio Prudente Hospital, Fortaleza, Brazil , Luiz Santos Pessoa, Andre Albert Sabin Hospital, Fortaleza, Brazil , Vitória Melo Gomes, Laura Rio Verde University, Goianesia, Brazil , Helder Costa Vasconcelos, Antonio University of Fortaleza, Fortaleza, Brazil , Picasso de Araujo Coimbra, Pablo Antonio Prudente Hospital, Fortaleza, Brazil
Abstract :
Ceroid neuronal lipofuscinosis (CLN) is a rare group of autosomal recessive neurodegenerative diseases that cause developmental delay and seizures. Herein, we present a case of a 7-year-old girl who referred for magnetic resonance imaging (MRI) following cognitive impairment and seizures. MRI was performed demonstrating some usual findings, and, surprisingly, a normal-sized cerebellum. This case draws attention to not hold to just the classical imaging presentation in order to suspect some leukodystrophy.