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Neuronal ceroïd-lipofuscinosis: Clinical, electroencephalographic, imaging, and genetic study of a maghrebian series.
Ben Younes, Thouraya; Kraoua, Ichraf; Snanoudj, Sarah; Klaa, Hedia; Benrhouma, Hanene; Rouissi, Aida; Caillaud, Catherine; Chaabouni, Myriam; Miladi, Najoua; Bekri, Soumeya; Ben Youssef-Turki, Ilhem.
Affiliation
  • Ben Younes T; LR 18SP04 and Department of Child Neurology, National Institute Mongi Ben Hmida of Neurology of Tunis, Tunis, Tunisia.
  • Kraoua I; Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.
  • Snanoudj S; LR 18SP04 and Department of Child Neurology, National Institute Mongi Ben Hmida of Neurology of Tunis, Tunis, Tunisia.
  • Klaa H; Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.
  • Benrhouma H; Department of Metabolic Biochemistry, UNIROUEN, INSERM U1245, CHU Rouen, Normandie University, Rouen, France.
  • Rouissi A; LR 18SP04 and Department of Child Neurology, National Institute Mongi Ben Hmida of Neurology of Tunis, Tunis, Tunisia.
  • Caillaud C; Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.
  • Chaabouni M; LR 18SP04 and Department of Child Neurology, National Institute Mongi Ben Hmida of Neurology of Tunis, Tunis, Tunisia.
  • Miladi N; Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.
  • Bekri S; Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.
  • Ben Youssef-Turki I; Department of Metabolic Biochemistry, Necker-Enfants Malades Hospital, Université Paris Cité, Paris, France.
Clin Genet ; 102(2): 157-160, 2022 08.
Article in En | MEDLINE | ID: mdl-35796208
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.
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Neuronal Ceroid-Lipofuscinoses Limits: Humans Language: En Journal: Clin Genet Year: 2022 Document type: Article
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Neuronal Ceroid-Lipofuscinoses Limits: Humans Language: En Journal: Clin Genet Year: 2022 Document type: Article