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Case Reports
. 2022 Aug 22:13:942667.
doi: 10.3389/fneur.2022.942667. eCollection 2022.

Cardiac magnetic resonance findings in neuronal ceroid lipofuscinosis: A case report

Giancarlo Todiere  1 , Stefania Della Vecchia  2 , Maria Aurora Morales  3 , Andrea Barison  1 , Ivana Ricca  2 , Alessandra Tessa  2 , Elisa Colombi  4 , Filippo Maria Santorelli  2
Affiliations
Case Reports

Cardiac magnetic resonance findings in neuronal ceroid lipofuscinosis: A case report

Giancarlo Todiere et al. Front Neurol. .

Abstract

Cardiac magnetic resonance imaging (MRI) is an essential tool for the study of hypertrophic cardiomyopathies (HCM) and for differentiating HCM from conditions with increased ventricular wall thickness, such as cardiac storage diseases. Although cardiac MRI is already used for the diagnosis and characterization of some forms of storage diseases involving the myocardium, it has not yet been used to study myocardial involvement in neuronal ceroid lipofuscinosis (NCL). Here, we describe comprehensive cardiac MRI findings in a patient with the CLN3 form of NCL showing basal inferior interventricular septal hypertrophy with maintained indexed LV mass within reference values and low T1-native values. MRI findings support a finding of abnormal storage material within the myocardium in CLN3 disease. We recommend the possible routine use of cardiac MRI for early diagnosis of cardiac involvement in CLN3 disease (also termed juvenile NCL) and to monitor the effects of emerging CLN3 therapies on the myocardium as well.

Keywords: CLN3; batten disease; cardiac magnetic resonance; cardiac pathology; neuronal ceroid lipofuscinosis.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

Figure 1
Figure 1
Sanger sequencing analysis performed in our patient (black square) revealed a two-base deletion (c.558_559delAG) in exon 8 of the CLN3 gene [(A) red arrow] and a splice-site mutation (c.461-1G>C) upstream exon 7 [(B) red arrow]. Segregation analysis showed that the father (empty square) carries the c.558_559delAG mutation (A) and a wild-type allele (C) whereas the mother (empty circle) has the splice-site mutation (B) and a wild-type allele (C). Base positions are referred to as the NM_000086 reference sequence (Ensembl genome browser, https://www.ensembl.org/).
Figure 2
Figure 2
Concentric left ventricular hypertrophy of basal and mid segments on cine images.
Figure 3
Figure 3
Segmental and global low native T1 mapping at MOLLI images. On the bottom right square, AHA segmentation with T1 native values of each segment. Areas of low native T1 are highlighted in blue.
Figure 4
Figure 4
Late gadolinium enhancement (LGE) images without hyperintense myocardial areas at the left ventricle.
See this image and copyright information in PMC

References

    1. Authors/Task Force members, Elliott PM, Anastasakis A, Borger MA, Borggrefe M, Cecchi F, et al. . 2014 ESC guidelines on diagnosis and management of hypertrophic cardiomyopathy: the task force for the diagnosis and management of hypertrophic cardiomyopathy of the european society of cardiology (ESC). Eur Heart J. (2014) 35:2733–79. 10.1093/eurheartj/ehu284 - DOI - PubMed
    1. Kim RJ, Wu E, Rafael A, Chen EL, Parker MA, Simonetti O, et al. . The use of contrast-enhanced magnetic resonance imaging to identify reversible myocardial dysfunction. N Engl J Med. (2000) 343:1445–53. 10.1056/NEJM200011163432003 - DOI - PubMed
    1. Moon JC, Messroghli DR, Kellman P, Piechnik SK, Robson MD, Ugander M, et al. . Myocardial T1 mapping and extracellular volume quantification: a Society for Cardiovascular Magnetic Resonance (SCMR) and CMR Working Group of the European Society of Cardiology consensus statement. J Cardiovasc Magn Reson. (2013) 15:92. 10.1186/1532-429X-15-92 - DOI - PMC - PubMed
    1. Germain P, El Ghannudi S, Jeung MY, Ohlmann P, Epailly E, Roy C, et al. . Native T1 mapping of the heart-a pictorial review. Clin Med Insights Cardiol. (2014) 8:1–11. 10.4137/CMC.S19005 - DOI - PMC - PubMed
    1. Karur GR, Robison S, Iwanochko RM, Morel CF, Crean AM, Thavendiranathan P, et al. . Use of Myocardial T1 Mapping at 30 T to differentiate Anderson-Fabry disease from hypertrophic cardiomyopathy. Radiology. (2018) 288:398–406. 10.1148/radiol.2018172613 - DOI - PubMed

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