Klin Monbl Augenheilkd
DOI: 10.1055/a-1333-3075
Der interessante Fall

Intermittent Alternating Eye-Head Synkinesia in GLUT1 Deficiency Syndrome

Intermittierende alternierende Auge-Kopf-Synkinesie beim GLUT1-Defizit-Syndrom
Ana Paula Ribeiro Reis
1  Ophthalmology, Universitätsspital Basel Augenklinik, Basel, Switzerland
,
Nadine Gerber-Hollbach
1  Ophthalmology, Universitätsspital Basel Augenklinik, Basel, Switzerland
,
Peter Weber
2  Neurology, Universitäts-Kinderspital beider Basel, Basel, Switzerland
,
1  Ophthalmology, Universitätsspital Basel Augenklinik, Basel, Switzerland
› Author Affiliations

Background

Glucose is the main energy source of the brain and crosses the blood-brain barrier through glucose transporter proteins [1]. Within the main glucose transporter families, glucose transporter 1 (GLUT1) and its corresponding gene SLC2A were identified in 1985 [2]. De Vivo et al. first described two cases of GLUT1 deficiency syndrome (GLUT1-DS) in 1991 [3]. The classic phenotype is characterized by seizures, developmental delay, microcephaly, and a variable degree of spasticity [3]. The nonclassical phenotype (15 – 20%) includes a huge spectrum of manifestations and is potentially lethal at a very early age [4]. Oculomotor involvement is described in both phenotypes and includes eye rolling, horizontal roving eye movements, and head bobbing [1]. A retrospective case series from Pearson et at., which looked at 101 patients with GLUT1-DS in the United States, found a documented history of paroxysmal abnormal eye movements in 32% of the patients with GLUT1-DS, with episodes preceding the onset of seizures in 63% of them [5]. To date, about 100 children worldwide are known to suffer from GLUT1-DS, classified as a rare disease (OMIM 606 777). In our case, the isolated unusual eye and head movements led to an initial ophthalmological referral and it is our goal with this report to raise awareness of this rare and treatable condition in the ophthalmological community.



Publication History

Received: 09 September 2020

Accepted: 17 November 2020

Publication Date:
19 February 2021 (online)

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