ICNC Abstracts, ICNC 2018

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Outcomes and SLC2A1 Mutations in Febrile Young Infants with Hypoglycorrhachia

Last modified: 2018-09-09


Objective: To investigate the outcomes and possibility of glucose transporter 1 deficiency syndrome (GLUT1DS) in febrile infants with hypoglycorrhachia.

Methods: 1655 infants aged younger than 4 months had cerebrospinal fluid (CSF) examination performed for fever work-up from 2006 to 2016. Among the infants who had normal CSF cell counts and without pathogens, the non-hypoglycorrhachia control group were infants with normal CSF glucose levels and age- and gender-matched with the hypoglycorrhachia group. These two groups had a mean duration of 5.9± 2.4 years of follow-up. The solute carrier family 2, facilitated glucose transporter member 1 (SLC2A1) gene mutation was analyzed.

Results: Among the 722 young infants with normal CSF cell counts and without any pathogen isolated, 30 infants (4.2%) met the hypoglycorrhachia criteria of GLUT1DS. In the 25 infants of the hypoglycorrhachia group available for follow-up, 4 (16%) had abnormal outcomes, including 3 patients (12%) with mixed type of developmental delay or autism and 1 (4%) with type 1 diabetes mellitus. In the control group (n=50), only 2 patients (4%) showed abnormal outcomes, both with pure speech delay. The hypoglycorrhachia group had a higher rate of mixed type of developmental delay than the control group (12% versus 0%, p =0.034). No SLC2A1 genetic mutation, and no difference in the SLC2A gene polymorphism was found in the hypoglycorrhachia group compared to the genetic database of Taiwan population.  

Conclusion: Hypoglycorrhachia found in young infants by routine CSF examinations for fever work-up may be a potential biomarker for neurodevelopmental delay instead of for GLUT1DS.


glucose transporter 1 deficiency syndrome; developmental delay; hypoglycorrhachia

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