Epilepsy in selected neurometabolic diseases

Paprocka, Justyna; Emich-Widera, Ewa

doi:10.20966/chn.2018.55.428

Cited by 1 publication

(1 citation statement)

References 33 publications

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“…Glucose transporter type 1 deficiency syndrome appears to be a challenging issue for many healthcare professionals—mostly due to its diverse nature of symptoms and clinical course. Therefore, now, mostly the term “ SLC2A1- related disorders”—a phenotype including various epilepsy syndromes and motor disorders (e.g., type 9 and type 18 dystonia)—is used [ 10 ]. Typically, the first symptoms are observed in the first year of life.…”

Section: Discussionmentioning

confidence: 99%

Diagnostic and Clinical Manifestation Differences of Glucose Transporter Type 1 Deficiency Syndrome in a Family with SLC2A1 Gene Mutation

Pawlik

Okulewicz

Pawlik

et al. 2022

IJERPH

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Glucose transporter type 1 deficiency syndrome is a rare genetic disease that manifests neurological symptoms such as mental impairment or movement disorders, mostly seen in pediatric patients. Here, we highlight the main symptoms, diagnostic difficulties, and genetic correlations of this disease based on different clinical presentations between the members of a family carrying the same mutation. In this report, we studied siblings—a 5-year-old girl and a 6-year-old boy—who were admitted to a pediatric ward with various neurological symptoms. Different diagnostic procedures such as lumbar puncture, electroencephalography, and MRI of the brain were performed on these patients. Whole genome sequencing identified mutations in the SLC2A1 and GLUT1-DS genes, following which a ketogenic diet was implemented. This diet modification resulted in a good clinical response. Our case report reveals patients with the same genetic mutations having distinctive clinical manifestations.

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Section: Discussionmentioning

confidence: 99%