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Head circumference in glucose transporter 1 deficiency syndrome: Normal for individuals, abnormal as a group

  • Loes A. van Gemert
    Correspondence
    Corresponding author. Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center, P.O. Box 9101, 6500, HB, Nijmegen, the Netherlands.
    Affiliations
    Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525, GA, Nijmegen, the Netherlands
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  • Wilhelmina G. Leen
    Affiliations
    Department of Neurology, Canisius Wilhelmina Hospital, Weg Door Jonkerbos 100, 6532, SZ, Nijmegen, the Netherlands
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  • Jos M. Draaisma
    Affiliations
    Department of General Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525, GA, Nijmegen, the Netherlands
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  • Nel Roeleveld
    Affiliations
    Department for Health Evidence, Radboud Institute for Health Sciences, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525, GA, Nijmegen, the Netherlands
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  • Michèl A. Willemsen
    Affiliations
    Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525, GA, Nijmegen, the Netherlands

    Donders Institute for Brain, Cognition and Behaviour, Montessorilaan 3, 6525, HR, Nijmegen, the Netherlands
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Published:April 26, 2022DOI:https://doi.org/10.1016/j.ejpn.2022.04.005

      Highlights

      • Microcephaly was never systematically studied as part of the GLUT1DS phenotype.
      • Among 54 patients with GLUT1DS, the head circumference (HC) was < −2 SD in 6.5%.
      • Deceleration of head growth and HC < −3 SD were not encountered in this cohort.
      • Interestingly, 75.9% of the patients with GLUT1DS had a HC below 0 SD.

      Abstract

      In the literature, microcephaly is considered as part of the classical phenotype of glucose transporter 1 deficiency syndrome (GLUT1DS), and previous cohort studies reported a prevalence of microcephaly of around 50%. In our clinical experience, however, only very few patients with GLUT1DS appear to have microcephaly. Therefore, we conducted an observational study among a large cohort of Dutch patients with GLUT1DS to investigate the prevalence of microcephaly, defined as < 2 standard deviations (SD) below the mean. We analysed the head circumference of 54 patients and found a prevalence of microcephaly at last known measurement of 6.5%. Notably, none of the patients had a head circumference < −3 SD. However, we learned that 75.9% of the patients had a head circumference below 0 SD. This study shows that microcephaly occurs less often than previously thought in patients with GLUT1DS, and that primary or secondary microcephaly does not seem to be a sign for clinicians to suspect GLUT1DS. As a group, however, patients with GLUT1DS seem to have decreased head circumference compared to healthy individuals and as such, our study suggests that early brain development and brain growth may be compromised in GLUT1DS.

      Keywords

      Abbreviations:

      CSF (cerebrospinal fluid), GLUT1DS (glucose transporter 1 deficiency syndrome), SD (standard deviation)
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