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Neuropediatrics
DOI: 10.1055/a-2239-1985
Short Communication

Early-Onset Dystonia and Visual Impairment Preceding Epileptic Encephalopathy Associated with PIGA Gene Mutation

Catarina Franquelim
1   Department of Pediatrics, Hospital Garcia de Orta, Almada, Portugal
,
Andreia Romana
1   Department of Pediatrics, Hospital Garcia de Orta, Almada, Portugal
,
Augusto Rachão
2   Department of Neurology, Hospital Garcia de Orta, Almada, Portugal
,
Joana Sousa Martins
1   Department of Pediatrics, Hospital Garcia de Orta, Almada, Portugal
,
José Paulo Monteiro
3   Department of Pediatrics, Centro de Desenvolvimento da Criança, Hospital Garcia de Orta, Almada, Portugal
,
João Carvalho
3   Department of Pediatrics, Centro de Desenvolvimento da Criança, Hospital Garcia de Orta, Almada, Portugal
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Abstract

The association between dystonia and early-onset epileptic encephalopathy (EOEE) may have a genetic basis. Phosphatidylinositol glycan biosynthesis class A protein (PIGA) germline mutations have been described in the last decade and associated with refractory EOEEs. Dysmorphisms and visceral abnormalities have also been reported. Here, we present the case of a now 8-month-old child who was evaluated for dystonia, visual impairment, and developmental delay at 2 months of age, followed by refractory focal seizures when he was 4 months old. The remaining examination was normal, besides an accelerated linear growth. His brain magnetic resonance and an extensive metabolic investigation failed to show any abnormalities. At 7 months of age, the exome sequencing found a hemizygous PIGA pathogenic variant-c.1352T > C (p.(Ile451Thr). Seizures improved after the association of carbamazepine with levetiracetam and the beginning of the ketogenic diet. To our knowledge, this is the first time the phenotype associated with this specific mutation is described. Our patient had the singularity of manifesting with remarkable dystonia, over 2 months before the onset of seizures. We also point to the utility of the gene sequencing approach in the diagnosis of patients with dystonia and EOEEs, since identification of the genetic cause may help in patient's management and families' empowerment.

Keywords

dystonia - epileptic encephalopathy - focal seizure - mutationsPIGA gene - congenital disorders of glycosylation


Publication History

Received: 23 October 2023

Accepted: 02 January 2024

Accepted Manuscript online:
05 January 2024

Article published online:
02 February 2024

© 2024. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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