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.
Cavitating and tigroid-like leukoencephalopathy in a case of NDUFA2-related disorder / Alagia, Marianna; Cappuccio, Gerarda; Torella, Annalaura; D'Amico, Alessandra; Mazio, Federica; Romano, Alfonso; Fecarotta, Simona; Casari, Giorgio; Nigro, Vincenzo; Brunetti-Pierri, Nicola. - In: JIMD REPORTS. - ISSN 2192-8304. - 52:1(2020), pp. 11-16-16. [10.1002/jmd2.12094]
Cavitating and tigroid-like leukoencephalopathy in a case of NDUFA2-related disorder
Alagia, Marianna;Cappuccio, Gerarda;Mazio, Federica;Romano, Alfonso;Fecarotta, Simona;Brunetti-Pierri, Nicola
2020
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
