Recurrent super-refractory status epilepticus and stroke like episode in a patient with Behr syndrome secondary to biallelic variants in OPA1 gene

Spoorthi Jagadish; Amy R.U.L. Calhoun; Sreenath Thati Ganganna

doi:10.1016/j.ebr.2024.100652

$Recurrent super-refractory status epilepticus and stroke like episode in a patient with Behr syndrome secondary to biallelic variants in OPA1 gene$

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Recurrent super-refractory status epilepticus and stroke like episode in a patient with Behr syndrome secondary to biallelic variants in OPA1 gene

Spoorthi Jagadish, Amy R.U.L. Calhoun and Sreenath Thati Ganganna

Epilepsy & behavior reports, Vol.25, 100652

02/2024

DOI: 10.1016/j.ebr.2024.100652

PMCID: PMC10869285

PMID: 38369985

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Abstract

•Our patient with OPA1 gene dysfunction had super-refractory status epilepticus.•Super- refractory status epilepticus has not been described in Behr syndrome.•This is the second report of metabolic stroke in a patient with Behr syndrome. Behr syndrome is associated with compound heterozygous dysfunction in OPA1 gene and typically presents with a constellation of visual impairment due to early onset optic atrophy, cerebellar ataxia, peripheral neuropathy, deafness, and gastrointestinal motility problems. Our patient with biallelic variants in OPA1 gene had delayed motor milestones, cerebellar ataxia, and optic atrophy in infancy. At the age of 7 years, he presented with recurrent episodes of super-refractory status epilepticus and metabolic stroke due to underlying mitochondrial dysfunction associated with OPA1 gene dysfunction. Besides the two rare prior case reports of focal and myoclonic seizures in patients with Behr syndrome, epilepsy in general is not well described in the typical phenotypic spectrum and to the best of our knowledge. Dramatic clinical presentation with recurrent super-refractory status epilepticus and metabolic stroke has not been reported previously. There is only one prior report of metabolic stroke in a patient with Behr syndrome due to OPA1 gene dysfunction.

Behr syndrome

Metabolic stroke

Mitochondrial disorder

OPA1 gene dysfunction

Stroke like episode (SLE)

Super-refractory status epilepticus

Details

Title: Subtitle: Recurrent super-refractory status epilepticus and stroke like episode in a patient with Behr syndrome secondary to biallelic variants in OPA1 gene
Creators: Spoorthi Jagadish - University of Iowa Hospitals and Clinics
Amy R.U.L. Calhoun - Division of Medical Genetics & Genomics, University of Iowa Hospitals and Clinics, 200 Hawkins Drive, Iowa City, Iowa, 52242, USA
Sreenath Thati Ganganna - Division of Child Neurology, University of Iowa Hospitals and Clinics, 200 Hawkins Drive, Iowa City, Iowa, 52242, USA
Resource Type: Journal article
Publication Details: Epilepsy & behavior reports, Vol.25, 100652
DOI: 10.1016/j.ebr.2024.100652
PMID: 38369985
PMCID: PMC10869285
NLM abbreviation: Epilepsy Behav Rep
ISSN: 2589-9864
eISSN: 2589-9864
Publisher: Elsevier Inc
Language: English
Date published: 02/2024
Academic Unit: Stead Family Department of Pediatrics; Medical Genetics and Genomics; Neurology (Pediatrics)
Record Identifier: 9984557859702771

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