Seizures, ataxia, developmental delay and the general paediatrician: Glucose transporter 1 deficiency syndrome

Authors: Coman, David J; Sinclair, KG¹; Burke, CJ¹; Appleton, DB¹; Pelekanos, JT¹; O'Neil, CM²; Wallace, GB³; Bowling, FG; Wang, D⁴; De Vivo, DC⁴; McGill, JJ

Source: Journal of Paediatrics and Child Health, Volume 42, Number 5, May 2006 , pp. 263-267(5)

Publisher: Wiley-Blackwell

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Abstract:

Aim

Glucose transporter 1 deficiency syndrome (GLUT1-DS) is an important condition for the general paediatrician's differential armamentarium. We describe a case series of eight patients in order to raise awareness of this treatable neurometabolic condition. The diagnosis of GLUT1-DS is suggested by a decreased absolute cerebrospinal fluid (CSF) glucose value (<2.2 mmol/L) or lowered CSF: plasma glucose ratio (<0.4). Methods

This is a review of eight Queensland patients with GLUT1-DS. The clinical presentation, clinical course, laboratory investigations and treatment outcomes are discussed. Results

The clinical features noted in our patient cohort include combinations of ataxia, developmental delay and a severe seizure disorder that is refractory to anticonvulsant medications. Seizures are the most common clinical manifestation and may be exacerbated by phenobarbitone. The paired CSF: plasma glucose results ranged from 0.2 to 0.39 (normal <0.6) with an average of 0.33. 3-O-Methyl-D-Glucose uptake and GLUT1 Genotyping analysis have been performed on five patients thus far. Rapid and impressive seizure control was observed in 100% of our patients once the ketogenic diet was instituted, with half of the cohort being able to wean completely from anticonvulsants. Conclusion

Children presenting with a clinical phenotype consisting of a refractory seizure disorder, ataxia and developmental delay should prompt the consideration of Glucose transporter 1 deficiency syndrome. While the diagnostic test of lumbar puncture is an invasive manoeuvre, the diagnosis provides a viable treatment option, the ketogenic diet. GLUT1-DS displays clinical heterogeneity, but the value of early diagnosis and treatment is demonstrated by our patient cohort.

Keywords: ataxia; developmental delay; glucose transporter type 1 deficiency syndrome; ketogenic diet; seizures

Document Type: Research article

DOI: http://dx.doi.org/10.1111/j.1440-1754.2006.00852.x

Affiliations: 1: Neurology and 2: Nutrition and Dietetics, The Royal Children's Hospital, 3: Department of Neurology, 4: Department of Neurology, Columbia University, New York, United States

Publication date: 2006-05-01

Seizures, ataxia, developmental delay and the general paediatrician: Glucose transporter 1 deficiency syndrome

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