Eyelid myoclonic status epilepticus: A rare phenotype in spinal muscular atrophy with progressive myoclonic epilepsy associated with ASAH1 gene mutation

Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a rare autosomal recessive disease associated with mutations of ASAH1 gene, which encodes N-acylsphingosine amidohydrolase 1 [1]. It is characterized by progressive proximal muscle weakness due to anterior horn cell degeneration, followed by myoclonic seizures and cognitive decline [1]. Age of onset can range from childhood to adolescence [1,2]. In addition to myoclonic seizures, absence, atonic, and rare generalized tonic–clonic seizures have been described [1,2]. Abnormal eye movements and eyelid flutter have also been described but without an epileptiform EEG correlate [1,2]. Herein, we report an unusual clinical manifestation of SMAPME syndrome, eyelid myoclonic status epilepticus (SE), which has not been previously reported and needed particular attention for the use of appropriate anti-epileptic drug treatments.