A Girl with PRRT2 Mutation Presenting with Benign Familial Infantile Seizures Followed by Autistic Regression

Benign familial infantile seizure (BFIS) is an autosomal dominant infantile-onset epilepsy syndrome with a typically benign prognosis. It is commonly associated with heterozygous mutations of the PRRT2 gene located on chromosome 16p11.2. The frameshift heterozygous mutation (c.649dupC, p.Arg217Profs...

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Bibliographic Details
Published in:Case reports in pediatrics 2024, Vol.2024 (1), p.5539799
Main Authors: Zhang, Li, Wan, Zhen-Xia, Zhu, Jin-Yi, Liu, Hui-Juan, Sun, Jin, Zou, Xiao-Hui, Zhang, Ting, Li, Yan
Format: Article
Language:English
Subjects:
Age
Asymptomatic
Autism
Babies
Case reports
Communication
Convulsions & seizures
Cyanosis
Drug withdrawal
Family medical history
Genetic disorders
Language disorders
Mutation
Pediatrics
Remission (Medicine)
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Summary:Benign familial infantile seizure (BFIS) is an autosomal dominant infantile-onset epilepsy syndrome with a typically benign prognosis. It is commonly associated with heterozygous mutations of the PRRT2 gene located on chromosome 16p11.2. The frameshift heterozygous mutation (c.649dupC, p.Arg217Profs∗8) in PRRT2 is responsible for the majority of BFIS cases. In this report, we present a rare case of a girl with a confirmed clinical and genetic diagnosis of BFIS due to a frameshift heterozygous mutation in PRRT2 (c.649dupC). She exhibited typical neurodevelopment until 15 months of age, followed by an unexpected severe autistic regression. In addition to BFIS, PRRT2 mutations are also associated with paroxysmal kinesigenic dyskinesia (PKD) and infantile convulsions and paroxysmal choreoathetosis (ICCA), indicating a complex genotype-phenotype heterogeneity in PRRT2 mutations. This clinical observation highlights the possibility that BFIS patients with PRRT2 mutations may not always have a benign neurodevelopmental prognosis, emphasizing the need for long-term clinical follow-up.
ISSN:2090-6803
2090-6811
DOI:10.1155/2024/5539799