International Clinical Neuroscience Journal

Vol. 8 No. 4 (2021)

Atypical Finding of MRI in a CLN type 5 patient

International Clinical Neuroscience Journal, Vol. 8 No. 4 (2021), 30 October 2021 , Page 205-207

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.

Keywords:
  • Magnetic resonance imaging
  • Ceroid neuronal lipofuscinosis
  • Neurodegenerative diseases

How to Cite

1.
Lima Júnior AG, Pinheiro de Abreu NM, Carmo Rodrigues JP, Vinícius Buratti Leal M, Sampaio Clarindo A, Luiz Santos Pessoa A, Vitória Melo Gomes L, Costa Vasconcelos AH, Coimbra de Araujo Coimbra P. Atypical Finding of MRI in a CLN type 5 patient. Int Clin Neurosci J [Internet]. 2021 Oct. 30 [cited 2024 Sep. 8];8(4):205-7. Available from: https://journals.sbmu.ac.ir/neuroscience/article/view/35548

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