Patient 2 is a female who is currently 5 years 9 months old. She exhibited a delay in achieving some developmental milestones, such as head lifting at 4 months, independent sitting at 1 year and independent walking at 2 years. She could say “baba,” or “mama” at the age of 1 year but exhibited regression in development with subsequent instances of only unconscious articulation. Nevertheless, she possessed non-verbal communication skills. Hand clapping was observed at 8 months. She displayed good eye contact as well as a purposeful hand use. She presented recurrent, febrile or non-febrile, generalized tonic-clonic seizures at 10 months; after being treated with LEV at the age of 15 months, she achieved a seizure-free status. Her seizure, which was characterized as a generalized tonic seizure without fever, relapsed at the age of 3 years and was treated with valproate (VPA) and LEV. She achieved a seizure-free status when she was 3.5 years old. EEG (15 months) findings revealed spike-and-slow waves with bilateral temporal and occipital involvement. MRI findings at the age of 10 months were normal ().
Patient 1 is a 5-year-old girl, who was observed to have severe hypotonia in her infancy and developmental delay. She was incapable of lifting her head when she was 7-month-old as well as was incapable of sitting by herself and had trouble imitating speech or actions when she was 1-year-old. By the age of 14 months, she was found to lack the ability to maintain eye contact and displayed head-shaking, hand-clapping and hand-wringing as well as bruxism. While she exhibited purposeful hand use, she presented recurrent, febrile or non-febrile, generalized tonic-clonic seizures at the age of 18 months. After receiving treatment with Levetiracetam (LEV) at 20 months, she achieved seizure-free status at the age of 2 years. At the age of 18 months and 2 years, the findings of her EEG tests revealed spike-and-slow waves with bilateral temporal involvement. Her MRI findings at the age of 14 months indicated a widened subarachnoid space ().