Open AccessFinnish Variant of Late Infantile Ceroid Neuronal Lipofuscinosis (fvLINCL); Atypical Finding on Magnetic Resonance Imaging
Author(s) -
Antonio Gomes Lima Júnior,
Nina Maia Pinheiro de Abreu,
João Paulo Carmo Rodrigues,
Marcus Vinícius Buratti Leal,
Anielly Sampaio Clarindo,
André Luiz Santos Pessoa,
Laura Vitória Melo Gomes,
Antonio Helder Costa Vasconcelos,
P. Coimbra
Publication year - 2021
Publication title -
international clinical neuroscience journal
Language(s) - English
Resource type - Journals
eISSN - 2383-2096
pISSN - 2383-1871
DOI - 10.34172/icnj.2021.40
Subject(s) - neuronal ceroid lipofuscinosis , magnetic resonance imaging , leukodystrophy , cerebellum , medicine , batten disease , neuroscience , neuroimaging , pathology , pediatrics , psychology , disease , radiology
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.