Oculogyric Crisis and Criss-Cross Gait of GLUT1 Deficiency Syndrome

An 8-year-old boy presented with abnormal ocular movements and seizures of various semiology since 2 years of age. He also had intermittent worsening of gait. Examination revealed normal head circumference, mild intellectual disability, episodes of oculogyric crises (OGC; [Video 1]), and criss-cross gait during episodes of OGC ([Video 2]). Investigations revealed low CSF glucose (38 mg/dL), normal CSF lactate (6 mg/dL), and normal neuroimaging. EEG showed a partially organized background with delta-theta slowing and intermittent frontal-predominant generalized discharges lasting 2 to 3 seconds. Genetic testing revealed pathogenic variant c.734A > C (p.Lys245Thr) in exon-6 of the SLC2A1 gene, suggesting glucose transporter protein type-1 deficiency syndrome (GLUT1 DS). He was started on the classic ketogenic diet with gradual improvement of symptoms and gait at a 6-month follow-up ([Video 3]).

Video 1 Oculogyric crises (OGC) of GLUT1 deficiency syndrome. Sustained dystonic conjugate eye movements in an upward direction lasting for approximately 30 seconds. Episodes of OGC were precipitated due to noncompliance with the ketogenic diet.

Video 2 Criss-cross gait of GLUT1 deficiency syndrome.

Video 3 On follow-up, he was able to walk and run without assistance.

Paroxysmal eye-head movements (aberrant gaze saccades) are an early feature of GLUT1 DS.[1] [2] OGC, an atypical feature, is characterized by involuntary sustained dystonic conjugate eyeball movements, usually upward along a horizontal plane lasting from seconds to hours.[3] [4] Criss-cross gait, a clue to GLUT1 DS, is characterized by chorea-dyskinesia of the lower body, resulting in legs intersecting repeatedly.[5] It is associated with compensatory upper-body movements to maintain balance.[5] Other genetic/neurometabolic disorders associated with OGC in children are dopamine transporter deficiency syndrome, aromatic L-amino acid decarboxylase (AADC) deficiency, PLA2G6-associated neurodegeneration.[3] [4]

Authors' Contributions

Study design, writing, editing, drafting, critical revision, and final approval: A.K., P.K.G., V.L., S.M., and L.S. All authors approved the final version of the manuscript.

Ethical Publication Statement

The authors confirm that they have read the Journal's position on issues involved in ethical publication and affirm that this report is consistent with those guidelines.

Publication History

Received: 14 December 2024

Accepted: 09 April 2025

Article published online:
07 May 2025

• References

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