Authors :
Presenting Author: Mariya Saify, MD – UAB/ Children's Alabama
Elaine Wirrell, MD – Mayo Clinic, Rochester MN, USA.
Duygu Selcen, MD – Mayo Clinic
Anthony Fine, MD – Mayo Clinic
Hicham Dabaja, MD – Mayo Clinic
Sihyeong Park, MD – Mayo Clinic
Keith Starnes, MD – Mayo Clinic, Rochester MN, USA.
Rationale:
Facioscapulohumeral muscular dystrophy (FSHD) is the a common muscular dystrophy caused by deletions on chromosome 4q35 resulting in muscle degeneration due to aberrant expression of the DUX4 gene. Epilepsy has been reported in about 7.4% of FSHD patients, commonly as focal seizures with temporal lobe features.
Methods: Single case report.
Results:
We present a case of late-onset epileptic spasms in a 16-year-old male with genetically confirmed FSHD Type 1. He had bilateral sensorineural hearing loss identified at 7 months. Facial weakness began at age 3, with scapular winging and shoulder weakness noted by age 15, prompting genetic testing.
Focal seizures began at age 5 with characteristics of left arm extension and rhythmic shaking and was treated with oxcarbazepine. At 8, he developed nocturnal episodes of confusion, aphasia, and clusters of shoulder protraction and tremors, occuring multiple times a week, lasting about 15 minutes and resistant to antiseizure medications.MRI brain identified focal cortical dysplasia in right perirolandic area.
Prolonged video EEG captured clusters of brief shoulder protraction ,sometimes accompanied by eye opening and facial grimacing. Electrographically, the movements were followed by generalized, maximal bifrontal fast activity at 9-13 Hz, associated with brief diffuse voltage attenuation of amplitude consistent with epileptic spasms (Figure 1). Interictally, EEG demonstrated epileptogenic discharges over right posterior head region (Figure 2). Impovement in spasms was noted after increased zonisamide and Briviracetam.
Conclusions:
This case highlights epileptic spasms as an atypical manifestation in FSHD1, emphasizing the role of prolonged EEG in accurate diagnosis and treatment.
Funding: None