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

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.

Keywords

• leukodystrophy
• mitochondrial
• NDUFA2