ACTH and vigabatrin achieved full seizure control in a patient with Ververi-Brady syndromeACTH and Vigabatrin Show Promise for Rare Epilepsy Syndrome

Frontiers in Medicine Published June 15, 2026 DOI ↗ Editorial oversight: Dr. Ji-eun Park, MD · Brain, Mind & Pain

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Key Takeaway

Note that ACTH and vigabatrin achieved full seizure control in one patient with Ververi-Brady syndrome and IESS.

This case report describes a 5-month-and-22-day-old male infant diagnosed with Ververi-Brady syndrome and infantile epileptic spasms syndrome (IESS). The patient was treated with adrenocorticotropic hormone and vigabatrin, resulting in full seizure control and improved developmental outcomes. A concurrent literature review of 46 patients with 41 distinct QRICH1 variants noted common features including developmental delay, facial dysmorphism, hypotonia, autism spectrum disorder, epilepsy, and scoliosis.

The authors identified a novel de novo variant (c.1282dup, p. Gln428Profs*27) in the QRICH1 gene as the cause of the patient's condition. This variant was classified as pathogenic according to ACMG/AMP guidelines. The report notes that while the clinical response was positive for this specific patient, the small sample size and single-case nature mean these findings cannot be generalized to all patients with QRICH1 variants.

Clinical utility is limited by the lack of a larger cohort. However, the case provides evidence of potential treatment pathways for infants presenting with both Ververi-Brady syndrome and IESS. The specific combination of ACTH and vigabatrin showed promise in this instance, but further studies are required to confirm efficacy across different genotypes.

How this fits prior evidence

This report addresses a gap in management options for patients with the QRICH1 gene variant. It contrasts with previous findings where a modified prednisone regimen showed short-term ineffectiveness in infantile epileptic spasms syndrome. While an XGBoost model predicted poor seizure outcomes in 56% of pediatric infantile epileptic spasms syndrome patients, this case demonstrates successful intervention using ACTH and vigabatrin for a specific genetic subtype.

Doctors reported on a 5-month-old male infant diagnosed with Ververi-Brady syndrome and infantile epileptic spasms. This rare condition is often associated with developmental delays and seizures. The medical team used a combination of two medications, adrenocorticotropic hormone (ACTH) and vigabatrin, to manage the patient's symptoms.

The treatment resulted in full seizure control and improved developmental outcomes for the infant. The study also included a review of 46 other patients with different mutations in the QRICH1 gene. These patients commonly shared features like developmental delays, facial changes, and epilepsy.

Because this was a single case report involving only one patient, the results are not yet enough to prove that this treatment works for everyone. The specific genetic variant found in this child is unique. While the response was positive for this infant, more research is needed to see if these medications work for all patients with similar conditions.

What this means for you:

A single case shows ACTH and vigabatrin may help a child with Ververi-Brady syndrome, but more research is needed.

Common questions

What is Ververi-Brady syndrome?

Ververi-Brady syndrome is a rare condition that can involve developmental delays, facial changes, muscle weakness, autism spectrum disorders, and epilepsy. It is linked to mutations in the QRICH1 gene. This specific case involved a child with both this syndrome and infantile epileptic spasms.

What medications were used for the patient?

The infant was treated with a combination of adrenocorticotropic hormone (ACTH) and vigabatrin. These medications led to full seizure control and improved developmental outcomes for the 5-month-old patient in this report.

Can these results be applied to all patients with similar conditions?

Because this was a single case report involving only one child, the findings cannot confirm that this treatment works for everyone. The specific genetic variant found in this patient is unique, and more research is needed to determine how it affects others.

Study Details

Study typeSystematic review

EvidenceLevel 1

PublishedJun 2026

View Original Abstract ↓

ObjectiveThis study aims to investigate the clinical phenotype and genetic etiology of a case of Ververi–Brady syndrome (VBS) with infantile epileptic spasms syndrome (IESS) caused by a novel de novo variant in the QRICH1 gene.MethodsClinical data were retrospectively collected from a pediatric patient admitted to Hunan Children’s Hospital on July 28, 2025, due to intermittent nodding episodes for 10 days. Trio-based whole-exome sequencing (trio-WES) was performed for the proband and his parents. Candidate variants were validated by Sanger sequencing and assessed for pathogenicity. Relevant literature was reviewed to summarize genotype–phenotype correlations.ResultsThe patient, a 5-month-and-22-day-old male infant, presented with facial dysmorphism, global developmental delay, and IESS. After treatment with adrenocorticotropic hormone (ACTH) and vigabatrin, seizures were fully controlled and developmental outcomes improved. Trio-WES identified a novel heterozygous frameshift variant in the QRICH1 gene (NM_198880.3: c.1282dup, p. Gln428Profs*27), which was de novo and absent in both parents. According to the ACMG/AMP guidelines, this variant was classified as pathogenic (PVS1 + PS2 + PM2_Supporting). A literature review identified 11 relevant articles, encompassing a total of 46 patients (including the present case) with 41 distinct QRICH1 variants: 10 missense, 11 nonsense, 17 frameshift, and 3 splicing mutations. Common clinical features included developmental delay, nonspecific facial dysmorphism, hypotonia, autism spectrum disorder, epilepsy, and scoliosis.ConclusionQRICH1 variants underlie Ververi–Brady syndrome. Here we describe a patient with QRICH1-related Ververi–Brady syndrome presenting with IESS. Combined treatment with ACTH and vigabatrin was followed by seizure freedom, electroencephalographic (EEG) improvement, and developmental gains in this patient. This report expands the genotypic and phenotypic spectrum of the disorder.

ACTH and vigabatrin achieved full seizure control in a patient with Ververi-Brady syndromeACTH and Vigabatrin Show Promise for Rare Epilepsy Syndrome

How this fits prior evidence

Common questions

Study Details

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ACTH and vigabatrin achieved full seizure control in a patient with Ververi-Brady syndromeACTH and Vigabatrin Show Promise for Rare Epilepsy Syndrome

How this fits prior evidence

Common questions

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Study Details

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Clinical research that matters. Delivered to your inbox.

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