Progressive encephalopathy with brain edema and/or leukoencephalopathy-2 is caused by a mutation in the NAXD gene.
Patients with NAXD mutations present with rapidly progressive neurologic findings associated with a febrile illness. Infants present with acute psychomotor regression with ataxia, hypotonia, and sometimes seizures. Death occurs in the first years of life.
The NAXD gene is essential for intracellular repair of NAD(P)HX
MRI shows increased T2 signal in the striatum (caudate nuclei and putamina), and the cortex of the temporal and frontal lobes.
References
NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses. van Bergen, N. J. et al., Brain 142: 50-58, 2019