A Novel Phenotypic Presentation of Absence Seizures in a 15-Month-Old with PIGK-Related GPI Biosynthesis Disorder: A Case Report.

Shan Lateef, Amy Feldman Lewanda, Julia Weston, Sarah Bade, Jacklyn Lessard

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Article in Case reports in neurology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 authors.

Shan LateefDepartment of Neurology, Pediatric Specialists of Virginia, Fairfax, VA, USA.

Amy Feldman LewandaChildren's National Rare Disease Institute, Washington, DC, USA.

Julia WestonChildren's National Rare Disease Institute, Washington, DC, USA.

Sarah BadeDepartment of Neurology, Pediatric Specialists of Virginia, Fairfax, VA, USA.

Jacklyn LessardDepartment of Neurology, Pediatric Specialists of Virginia, Fairfax, VA, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: PIGK-related glycosylphosphatidylinositol (GPI) biosynthesis disorder is an extremely rare neurodevelopmental condition, with only 12 cases described to date. It is caused by biallelic mutations in the Case Presentation: We report a 15-month-old female who presented with global developmental delay, hypotonia, oral dysphagia, nystagmus, and cerebellar atrophy on MRI. Abnormal movements occurred at 10 months of age with intermittent, brief right arm tremors initially presumed to be benign myoclonus of infancy. However, subsequent 24-h video EEG revealed classic 3-Hz generalized spike-and-wave discharges with clinical correlates of behavioral arrest previously unrecognized, confirming a diagnosis of absence seizures - a feature not previously reported in the literature for PIGK-related disorders. Whole exome sequencing confirmed biallelic Conclusion: This case highlights a novel EEG phenotype in PIGK-related GPI biosynthesis disorder underscoring the relevance of early EEG evaluation in infants with this extremely uncommon neurogenetic disorder.

Indexed as

Absence seizuresElectroclinical phenotypeGlycosylphosphatidylinositol biosynthesis disorderPIGK mutation

Identifiers

PMID41836309

DOI10.1159/000550598

PMCPMC12987671

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