Epilepsy with Myoclonic Absence in a Patient with COL4A1-Related Disorder: A Case Report

Introduction: The clinical spectrum of COL4A1-related disorders includes small-vessel brain disease of varying severity associated with eye defects and systemic findings. Neurological deficits may be severe, including cerebral palsy, developmental delay, intellectual disability, and focal epilepsy.

Myoclonic absence is a rare generalized seizure type, usually of unknown cause. Some cases with chromosomic abnormalities have been described. We report the case of a 5-year-old girl with mutation of the gene Col4A1 who presents with refractory epilepsy since age of 18 months, a developmental delay, a microcephaly, and a bilateral congenital cataract. She has two different seizure types: rare focal seizures secondarily generalized and multiple daily myoclonic absences. Electroencephalography shows

1. Interictal right occipital spikes and

2. Epileptic absences during 3 to 4 seconds, associated with 3 Hz generalized spike waves and bilateral upper limbs myoclonia on deltoid electromyography. Brain imagery shows signs of leukopathy with periventricular fluid-attenuated inversion recovery T2 hypersignal.

Conclusion: Until now myoclonic absences were not reported with COL4A1 mutation. Our case demonstrates the utility of genetic screening for COL4A1 mutations in young patients who have sign of leukopathy on brain imaging and epilepsy with myoclonic absences.

No conflict of interest has been declared by the author(s).