Diagnosis of glucose transporter deficiency syndrome type 1 in a 17-year-old male

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.

Keywords

Glucose-1-transporter deficiency - hypoglycorrhachia - seizures - developmental delay