Finnish Variant of Late Infantile Ceroid Neuronal Lipofuscinosis (fvLINCL); Atypical Finding on Magnetic Resonance Imaging
Antonio Gomes Lima Júnior, Nina Maia Pinheiro de Abreu, João Paulo Carmo Rodrigues and 6 more
International Clinical Neuroscience Journal · 2021
doi:10.34172/icnj.2021.40 (opens in a new tab)
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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.
Abstract licence: CC BY-NC
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