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

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 pe...

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Bibliographic Details
Main Authors: Antonio Gomes Lima Júnior, Nina Maia Pinheiro de Abreu, João Paulo Carmo Rodrigues, Marcus Vinícius Buratti Leal, Anielly Sampaio Clarindo, Andre Luiz Santos Pessoa, Laura Vitória Melo Gomes, Antonio Helder Costa Vasconcelos, Pablo Picasso de Araujo Coimbra
Format: article
Language:EN
Published: Shahid Beheshti University of Medical Sciences 2021
Subjects:
magnetic resonance imaging
ceroid neuronal lipofuscinosis
neurodegenerative diseases
Medicine
R
Online Access:https://doaj.org/article/c39fc67bc92d4758aaefc229c96d3ba8
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Summary: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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