Abstract Details

Title Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) Secondary to a Novel Variant in the ITPA Gene Successfully Treated with Dietary Therapy

Topic Child Neurology and Developmental Neurology

Presentation(s) P2 - Poster Session 2 (8:00 AM-9:00 AM)

Poster/Presentation
Number 6-009

Objective To report a case of Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) linked to a novel ITPA variant and explore the effectiveness of a Low Glycemic Index Diet (LGID) for seizure control.

Background

EIMFS is a rare developmental and epileptic encephalopathy (DEE) with a prevalence of 0.11 per 100,000 children. It manifests in early infancy with drug-resistant focal seizures that migrate between hemispheres, causing significant developmental delay/regression. The condition is primarily genetic (KCNT1 accounts for 50% of cases). Prognosis remains poor, depending on the underlying cause.

ITPA-related DEE is associated with biallelic loss-of-function mutations in the ITPA gene, which encodes a key enzyme in purine metabolism This rare autosomal recessive disorder is characterized by microcephaly, neurodegeneration, cerebral atrophy, and white matter abnormalities in infants. Fewer than a dozen cases have been reported, with only one linked to EIMFS. While the ketogenic diet has a 62.5% success rate in KCNT1-related EIMFS, its effectiveness in ITPA-related EIMFS is still unknown.

Design/Methods NA

Results A 2-year, 10-month-old female presented a 2-year history of multifocal clonic seizures resistant to multiple antiseizure medications. Physical exam revealed microcephaly, central hypotonia, and continuous choreiform upper limb movements. MRI showed cortical atrophy and white matter abnormalities, while EEG revealed a migrating ictal pattern (Figure 1). Genetic testing identified a novel homozygous ITPA variant (c.488+1G>A). Despite treatment with various antiseizure drugs, seizures persisted, leading to frequent hospitalizations. At age 2, LGID was introduced with good tolerance and adherence; seizures have mostly occurred during infections, and her development has improved notably.

Conclusions EIMFS is a rare form of DEE, with only one case linked to the ITPA gene; however, our patient's mutation is novel. Identifying the etiology is crucial for guiding treatment and prognosis. Although our patient responded well to LGID, further research is needed to confirm its efficacy in other EIMFS cases.

Authors/Disclosures
Naomi N. Becerra Aguiar PRESENTER	Ms. Becerra Aguiar has nothing to disclose.
Melissa F. Castillo, Jr., MD	Dr. Castillo has received personal compensation in the range of $500-$4,999 for serving as a Consultant for UCB. Dr. Castillo has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for UCB.
Rosa Marquez, MD	Dr. Marquez has nothing to disclose.

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