Deep Brain Stimulation of the Globus Pallidus Internus in a Child with Refractory Dystonia due to L2-Hydroxyglutaric Aciduria.

ABSTRACT:

Introduction

L-2-hydroxyglutaric aciduria (L2HGA) is a rare neurometabolic disorder marked by progressive and debilitating psychomotor deficits. Here, we report the first patient with L2HGA-related refractory dystonia that was managed with deep brain stimulation to the bilateral globus pallidus internus (GPi-DBS).

Case presentation

We present a 17-year-old female with progressive decline in cognitive function, motor skills, and language ability which significantly impaired activities of daily living. Neurological exam revealed generalized dystonia, significant choreic movements in the upper extremities, slurred speech, bilateral dysmetria, and a wide-based gait. Brisk deep tendon reflexes, clonus, and bilateral Babinski signs were present. Urine 2-OH-glutaric acid level was

SUBMITTER: Alamri A 

PROVIDER: S-EPMC11309047 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature