case_images: PMC9162848_01
case_images: EEG during drowsy state with frequent intermittent high-voltage sharp and slow waves predominantly over bilateral frontopolar and frontotemporal regions (a) and EEG during sleep with long lasting and nearly continuous high-voltage sharp and slow waves over same regions (b). Sensitivity of both EEG tracings is 15 uV/mm.
case_images: CRIPE2022-7414628.001.jpg
case_images: PMC9162848_01_CRIPE2022-7414628.001.jpg
case_images: fig1
case_images: Series of EEG showed frequent high-voltage bifrontotemporal and frontopolar sharp and slow waves which became more diffuse and frequent during sleep (Figure 1).
case_images: Timeline of various anticonvulsant use.
case_images: CRIPE2022-7414628.002.jpg
case_images: PMC9162848_01_CRIPE2022-7414628.002.jpg
case_images: fig2
case_images: She was put on a combination of sodium valproate (loading 40 mg/kg + maintenance 20 mg/kg/d), clobazam (0.8 mg/kg/d), and topiramate (1.4 mg/kg/d), but she developed hyperammonaemia with ammonia level up to 384 mu mmol/L, necessitating rescue treatment with sodium benzoate (Figure 2). Her seizures were partially improved but remained drug-resistant despite courses of intravenous immunoglobulin, high-dose steroids, and other antiepileptic drugs including lacosamide and phenytoin (Figures 2 and 3). The girl's seizures were under control after perampanel was added on to the existing treatment with lacosamide, clobazam, and valproate (Figures 2 and 3).
case_images: (a) Individual drug dosage over time. Sodium valproate (Epilim) and phenytoin dosage in mg/kg/d on the left. Topiramate, lacosamide, clobazam dosage, and perampanel level in mg/kg on the right. (b) Serum drug level over time. Sodium valproate (umol/L) in red. Phenytoin level (umol/L) in blue.
case_images: CRIPE2022-7414628.003.jpg
case_images: PMC9162848_01_CRIPE2022-7414628.003.jpg
case_images: fig3
case_images: Her seizures were partially improved but remained drug-resistant despite courses of intravenous immunoglobulin, high-dose steroids, and other antiepileptic drugs including lacosamide and phenytoin (Figures 2 and 3). The girl's seizures were under control after perampanel was added on to the existing treatment with lacosamide, clobazam, and valproate (Figures 2 and 3).
case_images: Karyotype of the patient showing 46,XX,r (20)(p13q13.3)/46,XX with mosaicism of 30%.
case_images: CRIPE2022-7414628.004.jpg
case_images: PMC9162848_01_CRIPE2022-7414628.004.jpg
case_images: fig4
case_images: Urgent karyotyping with the G-banding technique was performed on cultured peripheral blood lymphocytes at 400-550 band resolution level, with a total of 50 cells counted (Figure 4).