Atypical Finding of MRI in a CLN type 5 patient

نویسندگان
Antonio Gomes Lima Júnior ID 1
João Paulo Carmo Rodrigues ID 2
Anielly Sampaio Clarindo ID 3
Pablo Coimbra de Araujo Coimbra ID 4
Nina Maia Pinheiro de Abreu ID 5
Marcus Vinícius Buratti Leal ID 6
André Luiz Santos Pessoa ID 7
Laura Vitória Melo Gomes ID 8
Antonio Helder Costa Vasconcelos ID 9

1 Antonio Prudente Hospital, Fortaleza, Brazil

2 Antonio Prudente Hospital, Fortaleza, Brazil

3 Antonio Prudente Hospital, Fortaleza, Brazil

4 Antonio Prudente Hospital, Fortaleza, Brazil

5 Antonio Prudente Hospital, Fortaleza, Brazil

6 Antonio Prudente Hospital, Fortaleza, Brazil

7 Albert Sabin Hospital, Fortaleza, Brazil

8 Rio Verde University, Goianesia, Brazil

9 University of Fortaleza, Fortaleza, Brazil

doi
35548
چکیده

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.

کلیدواژه‌ها
Magnetic resonance imaging, Ceroid neuronal lipofuscinosis, Neurodegenerative diseases