CASE REPORT: PURA SYNDROME CAUSED BY A DE NOVO c.345_346del VARIANT IN A 6-YEAR-OLD BOY WITH REFRACTORY EPILEPSY AND DIAGNOSTIC DELAY

Bartosz Wójtowicz; Szymon Skrzypek; Patrycja Okoń; Jagoda Niczyporuk; Julianna Cholewa; Hubert Kubiszewski; Klaudia Szukała; Magdalena Chrościńska- Krawczyk

doi:10.31435/ijitss.3(51).2026.6390

Authors

Bartosz Wójtowicz Student Scientific Club of Pediatric Neurology, Medical University of Lublin, Poland https://orcid.org/0000-0002-7396-9117
Szymon Skrzypek Student Scientific Club of Pediatric Neurology, Medical University of Lublin, Lublin, Poland https://orcid.org/0009-0009-9174-7786
Patrycja Okoń Student Scientific Club of Pediatric Neurology, Medical University of Lublin, Lublin, Poland https://orcid.org/0009-0007-0988-5465
Jagoda Niczyporuk Student Scientific Club of Pediatric Neurology, Medical University of Lublin, Lublin, Poland https://orcid.org/0009-0003-2035-5650
Julianna Cholewa Student Scientific Club of Pediatric Neurology, Medical University of Lublin, Lublin, Poland https://orcid.org/0009-0007-2432-1828
Hubert Kubiszewski Student Scientific Club of Pediatric Neurology, Medical University of Warsaw, Warsaw, Poland https://orcid.org/0009-0003-5647-3616
Klaudia Szukała Lek., Department of Child Neurology, Medical University of Lublin, Chodzki 2, 20-093 Lublin, Poland https://orcid.org/0000-0002-8074-133X
Magdalena Chrościńska- Krawczyk Dr hab. n. med., Department of Child Neurology, Medical University of Lublin, Chodzki 2, 20-093 Lublin, Poland https://orcid.org/0000-0001-8121-6580

DOI:

https://doi.org/10.31435/ijitss.3(51).2026.6390

Keywords:

PURA Syndrome, Refractory Epilepsy, Diagnostic Odyssey, Exome Sequencing

Abstract

Background: PURA syndrome is a rare neurodevelopmental disorder caused by heterozygous pathogenic variants in the PURA gene, characterized by neonatal hypotonia, epilepsy, and developmental delay. Diagnostic delay is common when acquired neonatal insults co-exist and mask the underlying genetic etiology.

Methods: We describe a 6-year-old boy with a de novo PURA c.345_346del (p.Asp116LeufsTer84) variant identified by trio clinical exome sequencing after negative SCO2 sequencing and chromosomal microarray. Clinical course, EEFeG, neuroimaging, and 6-year follow-up were analyzed retrospectively.

Results: The patient presented with hypotonia, feeding difficulties, and neonatal seizures complicated by bacterial meningitis, grade I intraventricular hemorrhage, and hyperbilirubinemia. Seizures evolved into refractory epilepsy with tonic, hypermotor, and focal impaired awareness seizures despite four antiseizure medications. Additional features included non-verbal status, GMFCS V, strabismus, cryptorchidism, and hypothyroidism requiring replacement therapy.

Conclusion: Co-occurring acquired insults may mask monogenic etiology and prolong diagnostic odyssey. Early access to exome sequencing and multidisciplinary follow-up are critical for family counseling and care planning.

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