A. Gomes Lima Junior, Nina Maia Pinheiro de Abreu, João Paulo Carmo Rodrigues, Marcus Vinícius Buratti Leal, Anielly Sampaio Clarindo, A. L. Santos Pessoa, Laura Vitória Melo Gomes, Antonio Helder Costa Vasconcelos, P. P. de Araujo Coimbra
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Finnish Variant of Late Infantile Ceroid Neuronal Lipofuscinosis (fvLINCL); Atypical Finding on Magnetic Resonance Imaging
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.
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