NAXE gene mutation-related progressive encephalopathy: A case report and literature review.

ABSTRACT:

Rationale

Progressive encephalopathy with brain edema and/or leukoencephalopathy-1 is an infantile, lethal neurometabolic disorder caused by a NAD(P)HX epimerase (NAXE) gene mutation. It is characterized by a fluctuating disease course with repeated episodes of improvement and regression. In this report, we present a rare case of NAXE gene mutation-related encephalopathy with unexpected neurological recovery and long survival time.

Patient concerns

A 20-month-old girl presented with progressively unsteady gait and bilateral hand tremors after a trivial febrile illness. Her disease rapidly progressed to consciousness disturbance, 4-limb weakness (muscle power: 1/5 on the Medical Research Council scale), and respiratory failure. The patient gradually recovered 2 months later.

SUBMITTER: Chiu LW 

PROVIDER: S-EPMC8542128 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature