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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Autores principales:	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
Formato:	article
Lenguaje:	EN
Publicado:	Shahid Beheshti University of Medical Sciences 2021
Materias:	magnetic resonance imaging ceroid neuronal lipofuscinosis neurodegenerative diseases Medicine R
Acceso en línea:	https://doaj.org/article/c39fc67bc92d4758aaefc229c96d3ba8
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spelling	oai:doaj.org-article:c39fc67bc92d4758aaefc229c96d3ba82021-11-16T10:51:30ZFinnish Variant of Late Infantile Ceroid Neuronal Lipofuscinosis (fvLINCL); Atypical Finding on Magnetic Resonance Imaging2383-18712383-209610.34172/icnj.2021.40https://doaj.org/article/c39fc67bc92d4758aaefc229c96d3ba82021-10-01T00:00:00Zhttps://journals.sbmu.ac.ir/neuroscience/article/view/35548/27924https://doaj.org/toc/2383-1871https://doaj.org/toc/2383-2096Ceroid 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.Antonio Gomes Lima JúniorNina Maia Pinheiro de AbreuJoão Paulo Carmo RodriguesMarcus Vinícius Buratti LealAnielly Sampaio ClarindoAndre Luiz Santos PessoaLaura Vitória Melo GomesAntonio Helder Costa VasconcelosPablo Picasso de Araujo CoimbraShahid Beheshti University of Medical Sciencesarticlemagnetic resonance imagingceroid neuronal lipofuscinosisneurodegenerative diseasesMedicineRENInternational Clinical Neuroscience Journal, Vol 8, Iss 4, Pp 205-207 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	magnetic resonance imaging ceroid neuronal lipofuscinosis neurodegenerative diseases Medicine R
spellingShingle	magnetic resonance imaging ceroid neuronal lipofuscinosis neurodegenerative diseases Medicine R 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 Finnish Variant of Late Infantile Ceroid Neuronal Lipofuscinosis (fvLINCL); Atypical Finding on Magnetic Resonance Imaging
description	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.
format	article
author	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
author_facet	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
author_sort	Antonio Gomes Lima Júnior
title	Finnish Variant of Late Infantile Ceroid Neuronal Lipofuscinosis (fvLINCL); Atypical Finding on Magnetic Resonance Imaging
title_short	Finnish Variant of Late Infantile Ceroid Neuronal Lipofuscinosis (fvLINCL); Atypical Finding on Magnetic Resonance Imaging
title_full	Finnish Variant of Late Infantile Ceroid Neuronal Lipofuscinosis (fvLINCL); Atypical Finding on Magnetic Resonance Imaging
title_fullStr	Finnish Variant of Late Infantile Ceroid Neuronal Lipofuscinosis (fvLINCL); Atypical Finding on Magnetic Resonance Imaging
title_full_unstemmed	Finnish Variant of Late Infantile Ceroid Neuronal Lipofuscinosis (fvLINCL); Atypical Finding on Magnetic Resonance Imaging
title_sort	finnish variant of late infantile ceroid neuronal lipofuscinosis (fvlincl); atypical finding on magnetic resonance imaging
publisher	Shahid Beheshti University of Medical Sciences
publishDate	2021
url	https://doaj.org/article/c39fc67bc92d4758aaefc229c96d3ba8
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Finnish Variant of Late Infantile Ceroid Neuronal Lipofuscinosis (fvLINCL); Atypical Finding on Magnetic Resonance Imaging

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