Abstracts

Rationale: Optic Atrophy 1 (OPA1) is a gene that encodes an inner mitochondrial membrane protein responsible for various mitochondrial functions, including, but not limited to, mitochondrial fusion, maintenance of mitochondrial genome, and regulation of apoptosis.  OPA1 mutations have been well established to be associated with dominant optic atrophy (DOA) which presents with progressive optic nerve degeneration leading to vision loss. In addition to optic nerve degeneration, various clinical manifestations including ataxia, peripheral neuropathy, mitochondrial myopathy, external ophthalmoplegia, deafness, nystagmus, gastrointestinal dysmotility and intellectual delay have been grouped into a constellation of symptoms known as “DOA plus”. Behr syndrome is a condition that clinically overlaps with "DOA plus" phenotypes including early onset optic atrophy, ataxia, pyramidal signs, peripheral neuropathy and developmental delay; and has been associated with compound heterozygous OPA1 mutations. Despite the clinically heterogenicity, seizures have been reported in only few cases of Behr syndrome.

Methods: Medical records of the patient described were reviewed. A literature review was conducted to investigate the association between OPA1 mutation, Behr syndrome and epilepsy.

Results: We present a case of Behr syndrome, associated with compound heterozygous OPA1 mutation, who initially presented with refractory status epilepticus and later was diagnosed with multifocal epilepsy. It emphasizes the predisposition of OPA1 mutation to epilepsy and associates this case with few other cases reporting epilepsy in Behr syndrome.

Conclusions: Although seizures are a relatively uncommon manifestation of OPA1 mutation, close attention is warranted as owing to its predisposition to refractory epilepsy in patients with Behr syndrome and potential contribution to poor prognosis.

Funding: No funding was received in support of this abstract.