Cavitating and tigroid‐like leukoencephalopathy in a case of NDUFA2‐related disorder. Issue 1 (6th February 2020)

• Record Type: Journal Article
• Authors: Alagia, Marianna; Cappuccio, Gerarda; Torella, Annalaura; D'Amico, Alessandra; Mazio, Federica; Romano, Alfonso; Fecarotta, Simona; Casari, Giorgio; Nigro, Vincenzo; Brunetti‐Pierri, Nicola
• Is Part Of: JIMD reports. Volume 52:Issue 1(2020)
• Page Start: 11
• Page End: 16
• Publication Date: 2020-02-06
• Subjects: leukodystrophy -- mitochondrial -- NDUFA2; Metabolism, Inborn errors of -- Periodicals; Metabolism -- Disorders -- Periodicals; 616.39042
• DOI: 10.1002/jmd2.12094
• Languages: English
• ISSNs: 2192-8304

Abstract

Abstract: Biallelic variants in nuclear gene NDUFA2 have been reported so far in only three children with variable presentations including Leigh syndrome or leukoencephalopathy. Herein, we report a further female child affected by NDUFA2 ‐related disorder presenting with cavitating and tigroid‐like pattern of leukodystrophy and without systemic biochemical abnormalities of mitochondrial disorders.