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Fanella et al. J Transl Genet Genom 2021;5:124-9 Journal of Translational
DOI: 10.20517/jtgg.2021.11
Genetics and Genomics

Case Report Open Access

Idiopathic generalized epilepsy and café-au-lait
macules as the predominant features in NF1 mild

form

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Martina Fanella , Gioia Mastromoro , Alessandra Morano , Emanuele Cerulli Irelli , Gianmarco Tessari ,
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Stefano Ferracuti , Anna T. Giallonardo , Antonio Pizzuti , Carlo Di Bonaventura 1
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Department of Human Neurosciences, “Sapienza” University of Rome and Policlinico Umberto I, Roma 00185, Italy.
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Department of Experimental Medicine, “Sapienza” University of Rome and Policlinico Umberto I, Roma 00161, Italy.
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Department of Psychology, “Sapienza” University of Rome, Roma 00185, Italy.
Correspondence to: Dr. Carlo Di Bonaventura, Department of Neurological Sciences, University of Rome “Sapienza”, Viale
dell’Università 30, Rome 00185, Italy. E-mail: c_dibonaventura@yahoo.it
How to cite this article: Fanella M, Mastromoro G, Morano A, Cerulli Irelli E, Tessari G, Ferracuti S, Giallonardo AT, Pizzuti A, Di
Bonaventura C. Idiopathic generalized epilepsy and café-au-lait macules as the predominant features in NF1 mild form. J Transl
Genet Genom 2021;5:124-9. https://dx.doi.org/10.20517/jtgg.2021.11
Received: 5 Mar 2021 First Decision: 30 Mar 2021 Revised: 12 Apr 2021 Accepted: 26 Apr 2021 Available online: 13 May 2021
Academic Editor: Richard E. Frye Copy Editor: Xi-Jun Chen Production Editor: Xi-Jun Chen

Abstract
Neurofibromatosis type 1 (NF1) is a complex autosomal dominant neurocutaneous disorder with a variable
phenotype involving multiple body systems. It is due to a mutation in the NF1 gene, which results in the production
of abnormal neurofibromin protein. According to the National Institutes of Health diagnostic criteria,
hyperpigmented skin markings or café-au-lait macules (CALMs), axillary freckling, Lisch nodules, and
neurofibromas are characteristic NF1 features. A milder phenotype, apparently manifesting with only pigmentary
skin changes, has recently been associated with the c.2970_2972 in-frame deletion. Although neurological
findings, including epilepsy and neurocognitive deficits, have been frequently described as a part of the classic NF1
form, they have not been properly characterized in this milder variant. We report for the first time the case of a
patient harboring the c.2970_2972del of the NF1 gene and presenting with CALMs, idiopathic generalized epilepsy,
and transient brain MRI alterations (so-called “unidentified bright objects”).

Keywords: NF1 mild form, idiopathic generalized epilepsy, café-au-lait macules, “unidentified bright objects”
(UBOs)

© The Author(s) 2021. Open Access This article is licensed under a Creative Commons Attribution 4.0
International License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, sharing,
adaptation, distribution and reproduction in any medium or format, for any purpose, even commercially, as
long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and
indicate if changes were made.

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