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Developmental outcomes and prevalence of SLC2A1 variants in young infants with hypoglycorrhachia.
Brain Dev 2019BD

Abstract

INTRODUCTION

The neurodevelopmental outcomes of young infants with hypoglycorrhachia that is comparable to glucose transporter 1 deficiency syndrome (GLUT1DS), i.e. cerebrospinal fluid (CSF) glucose ≤40 mg/dL and CSF lactate <2.2 mM without causes of secondary hypoglycorrhachia are unknown. This study investigated the developmental outcomes and possibility of GLUT1DS in infants with hypoglycorrhachia, or low CSF glucose concentration.

MATERIAL AND METHODS

1655 neurologically asymptomatic infants aged <4 months had CSF examinations for fever workup from 2006 to 2016. Among the infants with normal CSF cell counts and without isolated pathogens, there were hypoglycorrhachia group who had CSF glucose levels that were comparable to GLUT1DS, and age- and gender-matched non-hypoglycorrhachia group. Both groups were at a mean age of 5.9 ± 2.4 years (ranged 1-10 years) at neurodevelopmental evaluation in 2017. Mutational analysis of solute-carrier-family 2, which facilitated the glucose transporter member 1 (SLC2A1) gene was performed.

RESULTS

Among the 722 infants with normal CSF cell counts and without isolated pathogens, 30 (4.2%) had hypoglycorrhachia that was comparable to GLUT1DS. In the 25 infants with hypoglycorrhachia available for follow-up, 4 (16%) had abnormal outcomes, of which 3 (12%) had the history of mixed-type developmental delay before age 6 and 1 (4%) had type 1 diabetes mellitus. In the non-hypoglycorrhachia control group (n = 50), 2 patients (4%) showed abnormal outcomes, both with the history of pure speech delay. The hypoglycorrhachia group had a higher rate of the history of mixed-type of developmental delay than the control group (12% vs. 0%, P = 0.034). No SLC2A1 pathogenic variants were observed in the hypoglycorrhachia group.

CONCLUSION

Hypoglycorrhachia may be a potential biomarker for neurodevelopmental delay instead of for GLUT1DS in neurologically asymptomatic young infants.

Authors+Show Affiliations

Department of Pediatrics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan; Graduate Institute of Clinical Medicine, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.Department of Pediatrics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan; Graduate Institute of Clinical Medicine, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.Institute of Gerontology, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.Department of Pediatrics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan; Graduate Institute of Clinical Medicine, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.Department of Pediatrics, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan; Department of Pediatrics, College of Medicine, Taipei Medical University, Taipei, Taiwan. Electronic address: huangped@tmu.edu.tw.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

31326153

Citation

Yu, Wen-Hao, et al. "Developmental Outcomes and Prevalence of SLC2A1 Variants in Young Infants With Hypoglycorrhachia." Brain & Development, 2019.
Yu WH, Chen LW, Wang ST, et al. Developmental outcomes and prevalence of SLC2A1 variants in young infants with hypoglycorrhachia. Brain Dev. 2019.
Yu, W. H., Chen, L. W., Wang, S. T., Tu, Y. F., & Huang, C. C. (2019). Developmental outcomes and prevalence of SLC2A1 variants in young infants with hypoglycorrhachia. Brain & Development, doi:10.1016/j.braindev.2019.07.004.
Yu WH, et al. Developmental Outcomes and Prevalence of SLC2A1 Variants in Young Infants With Hypoglycorrhachia. Brain Dev. 2019 Jul 17; PubMed PMID: 31326153.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Developmental outcomes and prevalence of SLC2A1 variants in young infants with hypoglycorrhachia. AU - Yu,Wen-Hao, AU - Chen,Li-Wen, AU - Wang,Shan-Tair, AU - Tu,Yi-Fang, AU - Huang,Chao-Ching, Y1 - 2019/07/17/ PY - 2019/03/27/received PY - 2019/07/02/revised PY - 2019/07/03/accepted PY - 2019/7/22/entrez PY - 2019/7/22/pubmed PY - 2019/7/22/medline KW - Glucose transporter 1 deficiency syndrome KW - Hypoglycorrhachia KW - Infant KW - SLC2A1 JF - Brain & development JO - Brain Dev. N2 - INTRODUCTION: The neurodevelopmental outcomes of young infants with hypoglycorrhachia that is comparable to glucose transporter 1 deficiency syndrome (GLUT1DS), i.e. cerebrospinal fluid (CSF) glucose ≤40 mg/dL and CSF lactate <2.2 mM without causes of secondary hypoglycorrhachia are unknown. This study investigated the developmental outcomes and possibility of GLUT1DS in infants with hypoglycorrhachia, or low CSF glucose concentration. MATERIAL AND METHODS: 1655 neurologically asymptomatic infants aged <4 months had CSF examinations for fever workup from 2006 to 2016. Among the infants with normal CSF cell counts and without isolated pathogens, there were hypoglycorrhachia group who had CSF glucose levels that were comparable to GLUT1DS, and age- and gender-matched non-hypoglycorrhachia group. Both groups were at a mean age of 5.9 ± 2.4 years (ranged 1-10 years) at neurodevelopmental evaluation in 2017. Mutational analysis of solute-carrier-family 2, which facilitated the glucose transporter member 1 (SLC2A1) gene was performed. RESULTS: Among the 722 infants with normal CSF cell counts and without isolated pathogens, 30 (4.2%) had hypoglycorrhachia that was comparable to GLUT1DS. In the 25 infants with hypoglycorrhachia available for follow-up, 4 (16%) had abnormal outcomes, of which 3 (12%) had the history of mixed-type developmental delay before age 6 and 1 (4%) had type 1 diabetes mellitus. In the non-hypoglycorrhachia control group (n = 50), 2 patients (4%) showed abnormal outcomes, both with the history of pure speech delay. The hypoglycorrhachia group had a higher rate of the history of mixed-type of developmental delay than the control group (12% vs. 0%, P = 0.034). No SLC2A1 pathogenic variants were observed in the hypoglycorrhachia group. CONCLUSION: Hypoglycorrhachia may be a potential biomarker for neurodevelopmental delay instead of for GLUT1DS in neurologically asymptomatic young infants. SN - 1872-7131 UR - https://www.unboundmedicine.com/medline/citation/31326153/Developmental_outcomes_and_prevalence_of_SLC2A1_variants_in_young_infants_with_hypoglycorrhachia L2 - https://linkinghub.elsevier.com/retrieve/pii/S0387-7604(19)30206-2 DB - PRIME DP - Unbound Medicine ER -