Finnish Variant of Late Infantile Ceroid Neuronal Lipofuscinosis (fvLINCL); Atypical Finding on Magnetic Resonance Imaging

Gomes Lima Júnior, Antonio and de Abreu, Nina Maia Pinheiro and Carmo Rodrigues, João Paulo and Leal, Marcus Vinícius Buratti and Clarindo, Anielly Sampaio and Santos Pessoa, Andre Luiz and Gomes, Laura Vitória Melo and Vasconcelos, Antonio Helder Costa and de Araujo Coimbra, Pablo Picasso (2021) Finnish Variant of Late Infantile Ceroid Neuronal Lipofuscinosis (fvLINCL); Atypical Finding on Magnetic Resonance Imaging. International Clinical Neuroscience Journal, 8 (4). pp. 205-207. ISSN 2383-1871

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Official URL: https://doi.org/10.34172/icnj.2021.40

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.

Item Type:	Article
Subjects:	Afro Asian Library > Medical Science
Depositing User:	Unnamed user with email support@afroasianlibrary.com
Date Deposited:	23 Jan 2023 09:28
Last Modified:	23 May 2024 07:25
URI:	http://classical.academiceprints.com/id/eprint/18

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