case_images: PMC11288845_01
case_images: PMC11288845_02
case_images: Clinical course of the patient. Severity of epilepsy was evaluated using the E-Chess scoring system, which comprises five variables; 1) frequency of seizures, 2) time period over which seizures occurred, 3) number of seizure types, 4) number of anticonvulsants used, and 5) response to treatment. A higher total score indicates greater severity. The scores were derived from the medical records. After adding LCM, E-Chess scores lowered. However, status epilepticus occasionally occurred after the age of 40 years. Sleep disturbance and irritability worsened intermittently. The patient sometimes had gastrointestinal symptoms including nausea and vomiting, and developed ileus. DIHS: drug-induced hypersensitivity syndrome, E-Chess: Early Childhood Epilepsy Severity Scale, GI: gastrointestinal symptoms, LCM: lacosamide, LEV: levetiracetam, PB: phenobarbital, SE: Status epilepticus, VPA: valproic acid.
case_images: fgene-15-1410979-g001.jpg
case_images: PMC11288845_02_fgene-15-1410979-g001.jpg
case_images: F1
case_images: PMC11288845_03
case_images: PMC11288845_04
case_images: PMC11288845_05
case_images: Clinical features of the patient. At 45 years of age, the patient looked older than her actual age. Frontal (A) and lateral (B) views showing prominent forehead and bitemporal narrowing, sparse eyebrows and eyelashes, hypertelorism and epicanthal folds, ptosis in the right eye and ocular prosthesis in the left eye, along with low-set and posterior-rotated ears. Joint contractures were evident in elbows, hip joints, and knees. The high anterior hairline, sparse eyebrows, ptosis, and short nose with depressed bridge are apparent from childhood (C). Multiple melanocytic naevi were found on her abdomen (D) and right elbow (E).
case_images: fgene-15-1410979-g002.jpg
case_images: PMC11288845_05_fgene-15-1410979-g002.jpg
case_images: F2
case_images: She exhibited characteristic facial features, musculoskeletal symptoms such as kyphosis and joint contractures, and cutaneous symptoms as melanocytic nevi (Figure 2).
case_images: PMC11288845_06