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Head circumference in glucose transporter 1 deficiency syndrome: Normal for individuals, abnormal as a group.
van Gemert, Loes A; Leen, Wilhelmina G; Draaisma, Jos M; Roeleveld, Nel; Willemsen, Michèl A.
Afiliação
  • van Gemert LA; Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525, GA, Nijmegen, the Netherlands. Electronic address: loes.vangemert@radboudumc.nl.
  • Leen WG; Department of Neurology, Canisius Wilhelmina Hospital, Weg Door Jonkerbos 100, 6532, SZ, Nijmegen, the Netherlands. Electronic address: w.leen@cwz.nl.
  • Draaisma JM; Department of General Pediatrics, Amalia Children's Hospital, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525, GA, Nijmegen, the Netherlands. Electronic address: jos.draaisma@radboudumc.nl.
  • Roeleveld N; Department for Health Evidence, Radboud Institute for Health Sciences, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525, GA, Nijmegen, the Netherlands. Electronic address: nel.roeleveld@radboudumc.nl.
  • Willemsen MA; 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. Electronic address: Michel.wi
Eur J Paediatr Neurol ; 38: 73-76, 2022 May.
Article em En | MEDLINE | ID: mdl-35500464
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.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Erros Inatos do Metabolismo dos Carboidratos / Transportador de Glucose Tipo 1 / Dieta Cetogênica / Microcefalia Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Erros Inatos do Metabolismo dos Carboidratos / Transportador de Glucose Tipo 1 / Dieta Cetogênica / Microcefalia Idioma: En Ano de publicação: 2022 Tipo de documento: Article