Paroxysmal eye-head movements in Glut1 deficiency syndrome.

ABSTRACT:

Objective

To describe a characteristic paroxysmal eye-head movement disorder that occurs in infants with Glut1 deficiency syndrome (Glut1 DS).

Methods

We retrospectively reviewed the medical charts of 101 patients with Glut1 DS to obtain clinical data about episodic abnormal eye movements and analyzed video recordings of 18 eye movement episodes from 10 patients.

Results

A documented history of paroxysmal abnormal eye movements was found in 32/101 patients (32%), and a detailed description was available in 18 patients, presented here. Episodes started before age 6 months in 15/18 patients (83%), and preceded the onset of seizures in 10/16 patients (63%) who experienced both types of episodes. Eye movement episodes resolved, with or without treatment, by 6 years of age

SUBMITTER: Pearson TS 

PROVIDER: S-EPMC5405761 | biostudies-literature | 2017 Apr

REPOSITORIES: biostudies-literature