Neuronal ceroïd-lipofuscinosis: Clinical, electroencephalographic, imaging, and genetic study of a maghrebian series

Thouraya Ben Younes; Ichraf Kraoua; Sarah Snanoudj; Hedia Klaa; Hanene Benrhouma; Aida Rouissi; Catherine Caillaud; Myriam Chaabouni; Najoua Miladi; Soumeya Bekri; Ilhem Ben Youssef-Turki

doi:10.1111/cge.14145

Neuronal ceroïd-lipofuscinosis: Clinical, electroencephalographic, imaging, and genetic study of a maghrebian series

Clin Genet. 2022 Aug;102(2):157-160. doi: 10.1111/cge.14145.

Authors

Thouraya Ben Younes^{1

2}, Ichraf Kraoua^{1

2}, Sarah Snanoudj³, Hedia Klaa^{1

2}, Hanene Benrhouma^{1

2}, Aida Rouissi², Catherine Caillaud⁴, Myriam Chaabouni⁵, Najoua Miladi⁶, Soumeya Bekri³, Ilhem Ben Youssef-Turki^{1

2}

Affiliations

¹ LR 18SP04 and Department of Child Neurology, National Institute Mongi Ben Hmida of Neurology of Tunis, Tunis, Tunisia.
² Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.
³ Department of Metabolic Biochemistry, UNIROUEN, INSERM U1245, CHU Rouen, Normandie University, Rouen, France.
⁴ Department of Metabolic Biochemistry, Necker-Enfants Malades Hospital, Université Paris Cité, Paris, France.
⁵ LGC genetics-Laboratory of medical analyzes and human genetics, Jasmins Medical Center, Tunis, Tunisia.
⁶ Neuropediatrics medical office, Maghreb Medical, Tunis, Tunisia.

PMID: 35796208
DOI: 10.1111/cge.14145

Abstract

Our study included 13 patients diagnosed with neuronal ceroidlipofuscinosis. It is a group of rare genetically-determined neurodegenerativediseases characterized by clinical and genetic heterogeneity. brain MRI andelectroencephalogram facilitate diagnosis.

Publication types

Letter

MeSH terms

Electroencephalography
Humans
Magnetic Resonance Imaging
Neuronal Ceroid-Lipofuscinoses* / diagnostic imaging
Neuronal Ceroid-Lipofuscinoses* / genetics