Symptomatic West Syndrome Secondary to Glucose Transporter-1(GLUT1) Deficiency with Complete Response to 4:1 Ketogenic Diet

Abstract

Glucose transporter type 1 (GLUT-1) deficiency is a rare cause of preventable intellectual disability. Intellectual disability is due to refractory seizures in infancy and reduced supply of glucose to the brain. The authors report a third born male child of consanguineous parentage who presented with infantile spasms. Initially, he had refractory convulsions of focal, generalised, and myoclonic jerks, not responding to multiple anticonvulsants. He also had choreoathetoid movements. On examination he had microcephaly. MRI of brain was normal and EEG showing diffuse slowing. CSF glucose was low compared to blood glucose, with normal lactate and without any cells, hence diagnosed as Glucose transporter-1 deficiency and started on ketogenic diet. With ketogenic diet, child was seizure free, anticonvulsants decreased to 2 from 5, and improvements in development were noted.

Limited efficacy of the ketogenic diet in the treatment of highly refractory epileptic spasms

“…Moreover, there are certainly patients (e.g. GLUT1 transporter deficiency) for whom the ketogenic diet should be administered first-line [35]. We have only shown that the ketogenic diet is reasonably welltolerated and of limited efficacy among our highly-refractory cohort.…”

Glucose transport 1 deficiency presenting as infantile spasms with a mutation identified in exon 9 ofSLC2A1

“…In previous report, a patient with infantile spasms who did not respond to several antiepileptic drugs diagnosed as GLUT-1 deficiency. He was treated with ketogenic diet and later the seizure stopped11). These observations suggest that earlier detection of GLUT-1 in infantile spasms protects patients from disease progression.…”

Metabolic etiologies in West syndrome

“…Various seizure types may occur, including generalized tonic or clonic, atypical absences, atonic, myoclonic, myoclonic astatic, or focal. GLUT1 deficiency syndrome has rarely been reported in IS patients who responded to the ketogenic diet fully or partially, including a patient with a missense mutation in SLC2A1 (Table ).…”