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Juan M. Pascual, MD, PhD; Dong Wang, MD; Veronica Hinton, PhD; Kristin Engelstad, BS; Chitra M. Saxena, MPH; Ronald L. Van Heertum, MD; Darryl C. De Vivo, MD

Arch Neurol. 2007;64(4):507-513. Published online February 12, 2007 (doi:10.1001/archneur.64.4.noc60165).

Objective  To describe neuroglycopenia as a specific syndrome caused by insufficient glucose availability during brain development.

Design  Neurologic examinations, neuropsychologic tests, biochemical methods, and functional imaging.

Participants  Patients afflicted by genetic mutation of the cerebral glucose transporter type 1 and a patient afflicted by persistent infantile hypoglycemia (hyperinsulinism) matched to her healthy twin.

Results  The hallmark of the phenotype is the combination of infantile epilepsy and cerebellar and pyramidal tract dysfunction, together with permanent neuropsychologic abnormalities and reduced thalamocortical glucose uptake despite subsequent supply of energetic substrate.

Conclusions  When neuroglycopenia—the lack of adequate glucose supply to the nervous system—occurs in the developing brain, thalamic and cortical metabolism mature aberrantly, causing epilepsy associated with other characteristic neurologic and behavioral disturbances, a pattern also reflected in functional images, as if there were a temporal window during which glucose were crucial for brain development. When maturation is complete, glucose merely serves as a fuel, and then, when deficient, it only causes unrelated disturbances.

Author Affiliations: Colleen Giblin Research Laboratories, Neurological Institute of New York (Drs Pascual, Wang, and De Vivo, and Ms Engelstad), Departments of Neurology (Drs Pascual, Wang, and De Vivo, and Ms Engelstad) and Pediatrics (Drs Pascual and De Vivo), Department of Radiology, Kreitchman PET Center (Ms Saxena and Dr Van Heertum), and Department of Neurology, Sergievsky Center (Dr Hinton), College of Physicians and Surgeons, Columbia University, New York, New York.

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