Amelioration of disabling myoclonus in a case of DRPLA by levetiracetam
We report on an 18-year-old male patient with dentatorubral-pallidoluysian atrophy (DRPLA) (number of CAG repeats: 68) with progressive myoclonus epilepsy (PME), who showed a dramatic response to levetiracetam in terms of the intensity of myoclonus. He began to have convulsive seizures and myoclonus at 7 and 10years of age, respectively, and his intelligence deteriorated from 12years of age. EEG showed multifocal and diffuse spike-and-wave complexes. His convulsive seizures were suppressed from 13years of age.At 17years of age, the patient showed gradual intensification of erratic segmental positive myoclonus as well as frequent atonic falls that were probably attributable to negative myoclonus. Back averaging of EEG data revealed cortical discharges associated with positive myoclonus. Pho...

Persistence of Fetal Hemoglobin Expression in an Older Child with Trisomy 13
A delayed fetal-to-adult hemoglobin switch occurs in infants with trisomy 13. The level of fetal hemoglobin (HbF) has been assessed in very few children with trisomy 13 surviving past infancy. A 4-year-old female with trisomy 13 confirmed by karyotype and chromosomal microarray analysis was followed by our complex care service. The patient had developmental delay, a seizure disorder, frequent aspiration requiring gastrostomy tube placement and feedings, and recurrent urinary and respiratory tract infections. She had undergone repair of a cleft palate, umbilical hernia, and polydactyly. She was maintained on a medication regimen of omeprazole, nitrofurantoin, melatonin, and levetiracetam. (Source: The Journal of Pediatrics)