Affiliations: Division of Medical Genetics and Metabolism,
Children's Hospital of The King's Daughters, Norfolk, VA, USA
Note: [] Correspondence: Dr. Samantha A. Vergano, Division of Medical
Genetics and Metabolism, Children's Hospital of The King's Daughters, 601
Children's Lane, Norfolk, VA 23505, USA. Tel.: +1 757 668 9723; Fax: +1 757 668
9724; E-mail: [email protected]
Abstract: Glucose transporter deficiency syndrome type 1 (Glut-1 DS) is a rare
disease of abnormal glucose transport. Diagnosis is most often made in infancy
with the presentation of epileptic seizures, gross motor delays, and
microcephaly. We report a case of a 17-year-old male seen in our outpatient
clinic with a life-long history of developmental delays and seizures. He began
having apneic episodes with limb jerking at approximately 4 months of age.
Several antiepileptics were tried before the frequency of seizures decreased in
early adolescence. Developmental delays became apparent in infancy. The
proband's chief complaint at the time of presentation was abrupt
episodes of confusion, fatigue, and ataxia, with body stiffening, occurring
monthly, sometimes weekly, with minimal recollection of the event. At the time
of his current evaluation, a review of laboratory findings revealed a low
cerebrospinal fluid glucose level obtained during an emergency room evaluation
for a headache several years prior. This finding raised concern for Glut-1 DS.
Subsequent molecular analysis confirmed the diagnosis. While rare, this case
emphasizes the importance of considering Glut-1 DS in the differential of
seizures and cognitive delays, even in older children. Treatment with a
ketogenic diet, despite at a later age of introduction, may still be effective
in ameliorating symptoms.
