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)To read this article in full you will need to make a payment
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Article info
Publication history
Published online: April 26, 2022
Accepted:
April 19,
2022
Received in revised form:
April 15,
2022
Received:
December 23,
2021
Identification
Copyright
© 2022 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
