Cavitating and tigroid-like leukoencephalopathy in a case of NDUFA2-related disorder

Marianna Alagia; Gerarda Cappuccio; Annalaura Torella; Alessandra D'Amico; Federica Mazio; Alfonso Romano; Simona Fecarotta; Giorgio Casari; Vincenzo Nigro; TUDP; Nicola Brunetti-Pierri

doi:10.1002/jmd2.12094

Cavitating and tigroid-like leukoencephalopathy in a case of NDUFA2-related disorder

JIMD Rep. 2020 Feb 6;52(1):11-16. doi: 10.1002/jmd2.12094. eCollection 2020 Mar.

Authors

Marianna Alagia¹, Gerarda Cappuccio^{1

2}, Annalaura Torella^{2

3}, Alessandra D'Amico⁴, Federica Mazio⁵, Alfonso Romano¹, Simona Fecarotta¹, Giorgio Casari², Vincenzo Nigro^{2

3}; TUDP; Nicola Brunetti-Pierri^{1

2}

Affiliations

¹ Department of Translational Medicine Federico II University Naples Italy.
² Telethon Institute of Genetics and Medicine Naples Italy.
³ Medical Genetics, Department of Biochemistry, Biophysics and General Pathology University of Campania 'Luigi Vanvitelli' Naples Italy.
⁴ Department of Advanced Biomedical Sciences Federico II University Naples Italy.
⁵ Department of Neurosciences, Division of Neuroradiology Ospedale Santobono-Pausilipon Naples Italy.

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.

Keywords: NDUFA2; leukodystrophy; mitochondrial.

Publication types

Case Reports